Conditions > Happy Puppet Syndrome
Page last updated: 2024-08-11 10:32:56
Happy Puppet Syndrome
Synonyms(2)
| Synonym |
|---|
| Happy Puppet Syndrome |
| Puppet Children |
Research
Studies (172)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|---|---|
| pre-1990 | 0 (0.00) | 23.3326 |
| 1990's | 36 (20.93) | 12.5806 |
| 2000's | 49 (28.49) | 18.1394 |
| 2010's | 54 (31.40) | 28.8240 |
| 2020's | 22 (12.79) | 9.53 |
Drugs Studied (123)
| Drug | Indicated | Studies | First Year | Last Year | Average Age | Relationship Strength | Trials | pre-1990 | 1990's | 2000's | 2010's | post-2020 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| gamma-aminobutyric acid | 0 | 1996 | 2018 | 17.3 | medium | 1 | 0 | 4 | 11 | 3 | 0 | |
| betaine | 0 | 2010 | 2019 | 9.0 | low | 2 | 0 | 0 | 1 | 2 | 0 | |
| chlorine | 0 | 2010 | 2023 | 7.5 | low | 0 | 0 | 0 | 1 | 0 | 1 | |
| 3-hydroxybutyric acid | 0 | 2020 | 2020 | 4.0 | low | 1 | 0 | 0 | 0 | 1 | 0 | |
| cytosine | 0 | 1997 | 2005 | 23.2 | low | 0 | 0 | 2 | 2 | 0 | 0 | |
| glycine | 0 | 2013 | 2013 | 11.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| melatonin | 0 | 2008 | 2020 | 9.4 | low | 1 | 0 | 0 | 2 | 5 | 0 | |
| nitrous oxide | 0 | 2008 | 2010 | 15.0 | low | 0 | 0 | 0 | 2 | 0 | 0 | |
| sulfites | 0 | 1997 | 2012 | 20.9 | low | 0 | 0 | 4 | 6 | 1 | 0 | |
| spermine | 0 | 2013 | 2013 | 11.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| taurine | 0 | 2018 | 2018 | 6.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| uracil | 0 | 2002 | 2002 | 22.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| baclofen | 0 | 2005 | 2005 | 19.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| bumetanide | 0 | 2023 | 2023 | 1.0 | low | 0 | 0 | 0 | 0 | 0 | 1 | |
| bupivacaine | 0 | 2007 | 2007 | 17.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| buspirone | 0 | 2019 | 2020 | 4.5 | low | 0 | 0 | 0 | 0 | 2 | 0 | |
| clonazepam | 0 | 2003 | 2009 | 18.0 | low | 0 | 0 | 0 | 2 | 0 | 0 | |
| clonidine | 0 | 2020 | 2020 | 4.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| amphetamine | 0 | 2012 | 2012 | 12.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| diazepam | 0 | 2007 | 2018 | 11.5 | low | 0 | 0 | 0 | 1 | 1 | 0 | |
| diphenhydramine | 0 | 2008 | 2008 | 16.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| dipyridamole | 0 | 2000 | 2000 | 24.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| valproic acid | 0 | 2002 | 2022 | 11.0 | low | 0 | 0 | 0 | 4 | 1 | 3 | |
| ethosuximide | 0 | 2001 | 2022 | 14.7 | low | 0 | 0 | 0 | 2 | 0 | 1 | |
| flumazenil | 0 | 1996 | 2008 | 22.0 | low | 0 | 0 | 1 | 1 | 0 | 0 | |
| fluoxetine | 0 | 2014 | 2015 | 9.5 | low | 0 | 0 | 0 | 0 | 2 | 0 | |
| gaboxadol | 0 | 2012 | 2021 | 5.5 | low | 1 | 0 | 0 | 0 | 2 | 2 | |
| idebenone | 0 | 2015 | 2015 | 9.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| iofetamine | 0 | 1996 | 1996 | 28.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| ketamine | 0 | 2007 | 2007 | 17.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| lamotrigine | 0 | 2002 | 2009 | 17.8 | low | 0 | 0 | 0 | 4 | 0 | 0 | |
| midazolam | 0 | 2008 | 2012 | 14.0 | low | 0 | 0 | 0 | 1 | 1 | 0 | |
| mirtazapine | 0 | 2020 | 2020 | 4.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| apnea | 0 | 2008 | 2008 | 16.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| phenobarbital | 0 | 2010 | 2010 | 14.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| piracetam | 0 | 1996 | 2010 | 19.0 | low | 0 | 0 | 1 | 2 | 0 | 0 | |
| propofol | 0 | 2007 | 2012 | 14.3 | low | 0 | 0 | 0 | 2 | 1 | 0 | |
| sevoflurane | 0 | 2007 | 2010 | 15.0 | low | 0 | 0 | 0 | 5 | 0 | 0 | |
| trazodone | 0 | 2020 | 2020 | 4.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| vigabatrin | 0 | 1998 | 2011 | 19.5 | low | 0 | 0 | 1 | 0 | 1 | 0 | |
| corticosterone | 0 | 2022 | 2022 | 2.0 | low | 0 | 0 | 0 | 0 | 0 | 1 | |
| reserpine | 0 | 2003 | 2003 | 21.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| thyroxine | 0 | 2007 | 2007 | 17.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| pentylenetetrazole | 0 | 2017 | 2017 | 7.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| lysine | 0 | 2010 | 2010 | 14.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| bromodeoxyuridine | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| levodopa | 0 | 2001 | 2020 | 9.2 | low | 1 | 0 | 0 | 1 | 4 | 0 | |
| diphemanil methylsulfate | 0 | 2000 | 2000 | 24.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| methionine | 0 | 1998 | 2016 | 17.0 | low | 0 | 0 | 1 | 0 | 1 | 0 | |
| threonine | 0 | 2003 | 2007 | 19.0 | low | 0 | 0 | 0 | 2 | 0 | 0 | |
| methylprednisolone | 0 | 2008 | 2008 | 16.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| indazoles | 0 | 2016 | 2016 | 8.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| isoxazoles | 0 | 2012 | 2021 | 5.5 | low | 1 | 0 | 0 | 0 | 2 | 2 | |
| azacitidine | 0 | 1997 | 1997 | 27.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| flurothyl | 0 | 2021 | 2021 | 3.0 | low | 0 | 0 | 0 | 0 | 0 | 1 | |
| aminoimidazole carboxamide | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| limestone | 0 | 2022 | 2022 | 2.0 | low | 0 | 0 | 0 | 0 | 0 | 1 | |
| kainic acid | 0 | 2016 | 2016 | 8.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| alpha-aminopyridine | 0 | 2019 | 2019 | 5.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| methoxyhydroxyphenylglycol | 0 | 2014 | 2014 | 10.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| s,n,n'-tripropylthiocarbamate | 0 | 2012 | 2012 | 12.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| n-methylaspartate | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| camptothecin | 0 | 2011 | 2011 | 13.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| pregnanolone | 0 | 2017 | 2017 | 7.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| glutamic acid | 0 | 2014 | 2016 | 9.0 | low | 0 | 0 | 0 | 0 | 2 | 0 | |
| fomesafen | 0 | 2016 | 2016 | 8.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| lovastatin | 0 | 2018 | 2018 | 6.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| topotecan | 0 | 2011 | 2013 | 12.2 | low | 0 | 0 | 0 | 0 | 4 | 0 | |
| remifentanil | 0 | 2010 | 2010 | 14.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| irinotecan | 0 | 2011 | 2011 | 13.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| adenosine | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| 5-methylcytosine | 0 | 1997 | 1997 | 27.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| triheptanoin | 0 | 2020 | 2020 | 4.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| d-aspartic acid | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| nicotine | 0 | 2008 | 2008 | 16.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| 3,4-dihydroxyphenylglycol | 0 | 2014 | 2014 | 10.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| homocysteine | 0 | 1998 | 1998 | 26.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| cytidylyl-(3'-5')-cytidine | 0 | 2006 | 2006 | 18.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| hydrogen sulfite | 0 | 1997 | 2012 | 19.8 | low | 0 | 0 | 1 | 4 | 1 | 0 | |
| cgp 35348 | 0 | 2005 | 2005 | 19.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| sr 95531 | 0 | 2005 | 2005 | 19.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| 6-chloropenicillanic acid s-sulfoxide | 0 | 2023 | 2023 | 1.0 | low | 0 | 0 | 0 | 0 | 0 | 1 | |
| dioctadecylamidoglycylspermine | 0 | 2013 | 2013 | 11.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| l 741626 | 0 | 2012 | 2012 | 12.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| saicar | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| leupeptins | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| n-acetylneuraminic acid | 0 | 2013 | 2013 | 11.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| rocuronium | 0 | 2007 | 2008 | 16.5 | low | 0 | 0 | 0 | 2 | 0 | 0 | |
| tretinoin | 0 | 2018 | 2018 | 6.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| cocaine | 0 | 2012 | 2012 | 12.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| carbenoxolone sodium | 0 | 2005 | 2005 | 19.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| isomethyleugenol | 0 | 1992 | 2022 | 26.0 | high | 0 | 0 | 22 | 2 | 1 | 1 | |
| cannabidiol | 0 | 2019 | 2023 | 3.0 | low | 0 | 0 | 0 | 0 | 1 | 1 | |
| D-fructopyranose | 0 | 2000 | 2000 | 24.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| tamoxifen | 0 | 2015 | 2015 | 9.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| 6-methyl-2-(phenylethynyl)pyridine | 0 | 2014 | 2014 | 10.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| raclopride | 0 | 2012 | 2012 | 12.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| sch 23390 | 0 | 2012 | 2012 | 12.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| linoleic acid | 0 | 2023 | 2023 | 1.0 | low | 0 | 0 | 0 | 0 | 0 | 1 | |
| levetiracetam | 0 | 2009 | 2022 | 10.3 | low | 0 | 0 | 0 | 2 | 0 | 1 | |
| sirolimus | 0 | 2014 | 2016 | 9.0 | low | 0 | 0 | 0 | 0 | 2 | 0 | |
| topiramate | 0 | 2000 | 2000 | 24.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| dexmedetomidine | 0 | 2015 | 2015 | 9.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| cysteine | 0 | 1999 | 1999 | 25.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| ganaxolone | 0 | 2017 | 2017 | 7.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| perampanel | 0 | 2020 | 2020 | 4.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| a 443654 | 0 | 2016 | 2016 | 8.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| ro 16-0154 | 0 | 1996 | 1996 | 28.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| mitoquinone | 0 | 2015 | 2015 | 9.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| technetium tc 99m exametazime | 0 | 1993 | 1993 | 31.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| oligonucleotides | 0 | 2007 | 2007 | 17.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| ubiquinone | 0 | 2015 | 2015 | 9.0 | low | 0 | 0 | 0 | 0 | 2 | 0 | |
| succinyladenosine | 0 | 2009 | 2009 | 15.0 | low | 0 | 0 | 0 | 1 | 0 | 0 | |
| sodium bisulfite | 0 | 1997 | 2007 | 22.7 | low | 0 | 0 | 2 | 1 | 0 | 0 | |
| piperidines | 0 | 2000 | 2012 | 16.7 | low | 0 | 0 | 1 | 1 | 1 | 0 | |
| pf-4708671 | 0 | 2016 | 2016 | 8.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| minocycline | 0 | 2014 | 2023 | 5.7 | low | 2 | 0 | 0 | 0 | 5 | 1 | |
| sybr green i | 0 | 2011 | 2011 | 13.0 | low | 0 | 0 | 0 | 0 | 1 | 0 | |
| vitamin b 12 | 0 | 1998 | 1998 | 26.0 | low | 0 | 0 | 1 | 0 | 0 | 0 | |
| folic acid | 0 | 2010 | 2019 | 9.5 | low | 2 | 0 | 0 | 1 | 1 | 0 | |
| cytidylyl-3'-5'-guanosine | 0 | 1994 | 1998 | 27.7 | low | 0 | 0 | 3 | 0 | 0 | 0 | |
| eye | 0 | 2006 | 2008 | 17.0 | low | 0 | 0 | 0 | 2 | 0 | 0 |
Subcellular organization of UBE3A in human cerebral cortex.
Molecular autism, , Volume: 9, 2018
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.
International journal of molecular sciences, , Apr-05, Volume: 19, Issue:4, 2018
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
Neuroscience letters, , Oct-15, Volume: 483, Issue:3, 2010
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 39, Issue:3, 2010
Mutations affecting GABAergic signaling in seizures and epilepsy.
Pflugers Archiv : European journal of physiology, , Volume: 460, Issue:2, 2010
Angelman syndrome: current understanding and research prospects.
Epilepsia, , Volume: 50, Issue:11, 2009
[Angelman syndrome--diagnosis and therapy of genomic imprinting disorders].
No to hattatsu = Brain and development, , Volume: 41, Issue:3, 2009
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome.
NeuroImage, , Jan-15, Volume: 39, Issue:2, 2008
[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].
Investigacion clinica, , Volume: 48, Issue:4, 2007
Lamotrigine effect on GABA transmission in Angelman syndrome?
Epilepsia, , Volume: 48, Issue:8, 2007
GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior.
Brain research. Developmental brain research, , Jun-30, Volume: 157, Issue:2, 2005
Angelman syndrome as a rare anaesthetic problem.
Paediatric anaesthesia, , Volume: 14, Issue:3, 2004
Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.
Journal of child neurology, , Volume: 18, Issue:1, 2003
GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.
Epilepsy research, , Volume: 36, Issue:2-3, 1999
Adverse effects of vigabatrin in Angelman syndrome.
Epilepsia, , Volume: 39, Issue:11, 1998
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.
The Journal of neuropsychiatry and clinical neurosciences, ,Winter, Volume: 9, Issue:1, 1997
Psychiatry needs a basic science titled sociophysiology.
Biological psychiatry, , May-15, Volume: 39, Issue:10, 1996
Molecular autism, , Volume: 9, 2018
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.
International journal of molecular sciences, , Apr-05, Volume: 19, Issue:4, 2018
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
Neuroscience letters, , Oct-15, Volume: 483, Issue:3, 2010
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 39, Issue:3, 2010
Mutations affecting GABAergic signaling in seizures and epilepsy.
Pflugers Archiv : European journal of physiology, , Volume: 460, Issue:2, 2010
Angelman syndrome: current understanding and research prospects.
Epilepsia, , Volume: 50, Issue:11, 2009
[Angelman syndrome--diagnosis and therapy of genomic imprinting disorders].
No to hattatsu = Brain and development, , Volume: 41, Issue:3, 2009
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome.
NeuroImage, , Jan-15, Volume: 39, Issue:2, 2008
[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].
Investigacion clinica, , Volume: 48, Issue:4, 2007
Lamotrigine effect on GABA transmission in Angelman syndrome?
Epilepsia, , Volume: 48, Issue:8, 2007
GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior.
Brain research. Developmental brain research, , Jun-30, Volume: 157, Issue:2, 2005
Angelman syndrome as a rare anaesthetic problem.
Paediatric anaesthesia, , Volume: 14, Issue:3, 2004
Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.
Journal of child neurology, , Volume: 18, Issue:1, 2003
GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.
Epilepsy research, , Volume: 36, Issue:2-3, 1999
Adverse effects of vigabatrin in Angelman syndrome.
Epilepsia, , Volume: 39, Issue:11, 1998
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.
The Journal of neuropsychiatry and clinical neurosciences, ,Winter, Volume: 9, Issue:1, 1997
Psychiatry needs a basic science titled sociophysiology.
Biological psychiatry, , May-15, Volume: 39, Issue:10, 1996
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Orphanet journal of rare diseases, , 10-22, Volume: 14, Issue:1, 2019
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.
Molecular biology reports, , Volume: 43, Issue:11, 2016
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
American journal of medical genetics. Part A, , Volume: 152A, Issue:8, 2010
Orphanet journal of rare diseases, , 10-22, Volume: 14, Issue:1, 2019
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.
Molecular biology reports, , Volume: 43, Issue:11, 2016
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
American journal of medical genetics. Part A, , Volume: 152A, Issue:8, 2010
Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.
Scientific reports, , 04-17, Volume: 13, Issue:1, 2023
Mutations affecting GABAergic signaling in seizures and epilepsy.
Pflugers Archiv : European journal of physiology, , Volume: 460, Issue:2, 2010
Scientific reports, , 04-17, Volume: 13, Issue:1, 2023
Mutations affecting GABAergic signaling in seizures and epilepsy.
Pflugers Archiv : European journal of physiology, , Volume: 460, Issue:2, 2010
Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial.
Trials, , Jan-09, Volume: 21, Issue:1, 2020
Trials, , Jan-09, Volume: 21, Issue:1, 2020
DNA methylation in mammalian development and disease.
Birth defects research. Part C, Embryo today : reviews, , Volume: 75, Issue:2, 2005
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
Human molecular genetics, , Volume: 8, Issue:4, 1999
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
Birth defects research. Part C, Embryo today : reviews, , Volume: 75, Issue:2, 2005
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
Human molecular genetics, , Volume: 8, Issue:4, 1999
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
Angelman syndrome and melatonin: What can they teach us about sleep regulation.
Journal of pineal research, , Volume: 69, Issue:4, 2020
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome.
American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
Interventions to improve sleep for individuals with Angelman syndrome: A systematic review.
Research in developmental disabilities, , Volume: 97, 2020
Treatment strategies for complex behavioral insomnia in children with neurodevelopmental disorders.
Current opinion in pulmonary medicine, , Volume: 19, Issue:6, 2013
Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients.
Sleep medicine, , Volume: 13, Issue:9, 2012
Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis.
Developmental medicine and child neurology, , Volume: 51, Issue:5, 2009
Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial.
Journal of child neurology, , Volume: 23, Issue:6, 2008
Effects of a low dose of melatonin on sleep in children with Angelman syndrome.
Journal of pediatric endocrinology & metabolism : JPEM, , Volume: 12, Issue:1
Journal of pineal research, , Volume: 69, Issue:4, 2020
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome.
American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
Interventions to improve sleep for individuals with Angelman syndrome: A systematic review.
Research in developmental disabilities, , Volume: 97, 2020
Treatment strategies for complex behavioral insomnia in children with neurodevelopmental disorders.
Current opinion in pulmonary medicine, , Volume: 19, Issue:6, 2013
Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients.
Sleep medicine, , Volume: 13, Issue:9, 2012
Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis.
Developmental medicine and child neurology, , Volume: 51, Issue:5, 2009
Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial.
Journal of child neurology, , Volume: 23, Issue:6, 2008
Effects of a low dose of melatonin on sleep in children with Angelman syndrome.
Journal of pediatric endocrinology & metabolism : JPEM, , Volume: 12, Issue:1
Anesthetic management in a child with Angelman syndrome.
Paediatric anaesthesia, , Volume: 20, Issue:7, 2010
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
Paediatric anaesthesia, , Volume: 20, Issue:7, 2010
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.
Human reproduction (Oxford, England), , Volume: 27, Issue:8, 2012
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.
Nucleic acids research, , Volume: 35, Issue:21, 2007
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
Molecular and cellular probes, , Volume: 21, Issue:3, 2007
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
Clinical chemistry, , Volume: 52, Issue:6, 2006
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
Nucleic acids research, , Aug-16, Volume: 33, Issue:14, 2005
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
In-tube DNA methylation profiling by fluorescence melting curve analysis.
Clinical chemistry, , Volume: 47, Issue:7, 2001
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, , Volume: 5, Issue:3, 2000
The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.
Molecular genetics and metabolism, , Volume: 69, Issue:1, 2000
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
American journal of medical genetics, , Dec-19, Volume: 73, Issue:3, 1997
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
European journal of human genetics : EJHG, , Volume: 5, Issue:2
Human reproduction (Oxford, England), , Volume: 27, Issue:8, 2012
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.
Nucleic acids research, , Volume: 35, Issue:21, 2007
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
Molecular and cellular probes, , Volume: 21, Issue:3, 2007
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
Clinical chemistry, , Volume: 52, Issue:6, 2006
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
Nucleic acids research, , Aug-16, Volume: 33, Issue:14, 2005
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
In-tube DNA methylation profiling by fluorescence melting curve analysis.
Clinical chemistry, , Volume: 47, Issue:7, 2001
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, , Volume: 5, Issue:3, 2000
The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.
Molecular genetics and metabolism, , Volume: 69, Issue:1, 2000
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
American journal of medical genetics, , Dec-19, Volume: 73, Issue:3, 1997
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
European journal of human genetics : EJHG, , Volume: 5, Issue:2
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.
International journal of molecular sciences, , Apr-05, Volume: 19, Issue:4, 2018
International journal of molecular sciences, , Apr-05, Volume: 19, Issue:4, 2018
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
Human mutation, , Volume: 20, Issue:4, 2002
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome.
Epilepsia, , Volume: 46, Issue:12, 2005
Epilepsia, , Volume: 46, Issue:12, 2005
Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.
Scientific reports, , 04-17, Volume: 13, Issue:1, 2023
Scientific reports, , 04-17, Volume: 13, Issue:1, 2023
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors.
Current gene therapy, , Volume: 19, Issue:6, 2020
Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series.
Psychiatric genetics, , Volume: 29, Issue:2, 2019
Current gene therapy, , Volume: 19, Issue:6, 2020
Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series.
Psychiatric genetics, , Volume: 29, Issue:2, 2019
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome.
Clinical neurology and neurosurgery, , Volume: 105, Issue:3, 2003
Epilepsia, , Volume: 50, Issue:11, 2009
Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome.
Clinical neurology and neurosurgery, , Volume: 105, Issue:3, 2003
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome.
American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
Ca(2+)/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome.
The Journal of biological chemistry, , Aug-24, Volume: 287, Issue:35, 2012
The Journal of biological chemistry, , Aug-24, Volume: 287, Issue:35, 2012
Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome.
Epilepsy & behavior : E&B, , Volume: 82, 2018
[A successful single nocturnal use of diazepam to treat non-convulsive status epilepticus].
No to hattatsu = Brain and development, , Volume: 39, Issue:5, 2007
Epilepsy & behavior : E&B, , Volume: 82, 2018
[A successful single nocturnal use of diazepam to treat non-convulsive status epilepticus].
No to hattatsu = Brain and development, , Volume: 39, Issue:5, 2007
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].
Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
Therapeutic approach to neurological manifestations of Angelman syndrome.
Expert review of clinical pharmacology, , Volume: 15, Issue:7, 2022
[Epilepsy in Angelman syndrome].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Epilepsy in Angelman syndrome: A scoping review.
Brain & development, , Volume: 43, Issue:1, 2021
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 105, 2017
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Epilepsy in Angelman syndrome.
Seizure, , Volume: 17, Issue:3, 2008
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.
Brain & development, , Volume: 25, Issue:4, 2003
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia, , Volume: 43, Issue:9, 2002
Precocious puberty in a case with probable Angelman syndrome.
Brain & development, , Volume: 16, Issue:3
[Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy].
Klinische Padiatrie, , Volume: 220, Issue:1
Expert review of clinical pharmacology, , Volume: 15, Issue:7, 2022
[Epilepsy in Angelman syndrome].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Epilepsy in Angelman syndrome: A scoping review.
Brain & development, , Volume: 43, Issue:1, 2021
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 105, 2017
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Epilepsy in Angelman syndrome.
Seizure, , Volume: 17, Issue:3, 2008
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.
Brain & development, , Volume: 25, Issue:4, 2003
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia, , Volume: 43, Issue:9, 2002
Precocious puberty in a case with probable Angelman syndrome.
Brain & development, , Volume: 16, Issue:3
[Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy].
Klinische Padiatrie, , Volume: 220, Issue:1
[Epilepsy in Angelman syndrome].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome.
Epilepsia, , Volume: 46, Issue:12, 2005
High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit.
Neurology, , Oct-23, Volume: 57, Issue:8, 2001
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome.
Epilepsia, , Volume: 46, Issue:12, 2005
High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit.
Neurology, , Oct-23, Volume: 57, Issue:8, 2001
[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome.
The Journal of pediatrics, , Volume: 152, Issue:4, 2008
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.
European journal of nuclear medicine, , Volume: 23, Issue:5, 1996
The Journal of pediatrics, , Volume: 152, Issue:4, 2008
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.
European journal of nuclear medicine, , Volume: 23, Issue:5, 1996
Impaired adult hippocampal neurogenesis and its partial reversal by chronic treatment of fluoxetine in a mouse model of Angelman syndrome.
Biochemical and biophysical research communications, , Sep-04, Volume: 464, Issue:4, 2015
Reversal of reduced parvalbumin neurons in hippocampus and amygdala of Angelman syndrome model mice by chronic treatment of fluoxetine.
Journal of neurochemistry, , Volume: 130, Issue:3, 2014
Biochemical and biophysical research communications, , Sep-04, Volume: 464, Issue:4, 2015
Reversal of reduced parvalbumin neurons in hippocampus and amygdala of Angelman syndrome model mice by chronic treatment of fluoxetine.
Journal of neurochemistry, , Volume: 130, Issue:3, 2014
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.
Neurology, , 02-16, Volume: 96, Issue:7, 2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, , Volume: 18, Issue:3, 2021
Upcoming market catalysts in Q3 2020.
Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Neurology, , 02-16, Volume: 96, Issue:7, 2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, , Volume: 18, Issue:3, 2021
Upcoming market catalysts in Q3 2020.
Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 76, 2015
Neurobiology of disease, , Volume: 76, 2015
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.
European journal of nuclear medicine, , Volume: 23, Issue:5, 1996
European journal of nuclear medicine, , Volume: 23, Issue:5, 1996
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Lamotrigine effect on GABA transmission in Angelman syndrome?
Epilepsia, , Volume: 48, Issue:8, 2007
Lamotrigine therapy of epilepsy with Angelman's syndrome.
Epilepsia, , Volume: 48, Issue:3, 2007
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia, , Volume: 43, Issue:9, 2002
Epilepsia, , Volume: 50, Issue:11, 2009
Lamotrigine effect on GABA transmission in Angelman syndrome?
Epilepsia, , Volume: 48, Issue:8, 2007
Lamotrigine therapy of epilepsy with Angelman's syndrome.
Epilepsia, , Volume: 48, Issue:3, 2007
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia, , Volume: 43, Issue:9, 2002
Are children with Angelman syndrome at high risk for anesthetic complications?
Paediatric anaesthesia, , Volume: 22, Issue:3, 2012
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
Paediatric anaesthesia, , Volume: 22, Issue:3, 2012
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
Mirtazapine for sleep disturbances in Angelman syndrome: a retrospective chart review of 8 pediatric cases.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, , 04-15, Volume: 16, Issue:4, 2020
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, , 04-15, Volume: 16, Issue:4, 2020
Barotrauma during apnoea testing for brain death determination in a five-year-old boy.
Anaesthesia and intensive care, , Volume: 36, Issue:3, 2008
Anaesthesia and intensive care, , Volume: 36, Issue:3, 2008
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
Neuroscience letters, , Oct-15, Volume: 483, Issue:3, 2010
Neuroscience letters, , Oct-15, Volume: 483, Issue:3, 2010
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome.
Journal of child neurology, , Volume: 25, Issue:3, 2010
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Cortical myoclonus in Angelman syndrome.
Annals of neurology, , Volume: 40, Issue:1, 1996
Journal of child neurology, , Volume: 25, Issue:3, 2010
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Cortical myoclonus in Angelman syndrome.
Annals of neurology, , Volume: 40, Issue:1, 1996
Are children with Angelman syndrome at high risk for anesthetic complications?
Paediatric anaesthesia, , Volume: 22, Issue:3, 2012
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Paediatric anaesthesia, , Volume: 22, Issue:3, 2012
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Anesthetic management in a child with Angelman syndrome.
Paediatric anaesthesia, , Volume: 20, Issue:7, 2010
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[General anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 57, Issue:2, 2010
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Paediatric anaesthesia, , Volume: 20, Issue:7, 2010
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[General anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 57, Issue:2, 2010
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome.
American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall.
Epileptic disorders : international epilepsy journal with videotape, , Volume: 13, Issue:3, 2011
Adverse effects of vigabatrin in Angelman syndrome.
Epilepsia, , Volume: 39, Issue:11, 1998
Epileptic disorders : international epilepsy journal with videotape, , Volume: 13, Issue:3, 2011
Adverse effects of vigabatrin in Angelman syndrome.
Epilepsia, , Volume: 39, Issue:11, 1998
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
International journal of molecular sciences, , Dec-24, Volume: 24, Issue:1, 2022
International journal of molecular sciences, , Dec-24, Volume: 24, Issue:1, 2022
Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome.
Clinical neurology and neurosurgery, , Volume: 105, Issue:3, 2003
Clinical neurology and neurosurgery, , Volume: 105, Issue:3, 2003
Angelman syndrome and hypothyroidism - coincidence or unique correlation?
Neuro endocrinology letters, , Volume: 28, Issue:5, 2007
[Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy].
Klinische Padiatrie, , Volume: 220, Issue:1
Neuro endocrinology letters, , Volume: 28, Issue:5, 2007
[Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy].
Klinische Padiatrie, , Volume: 220, Issue:1
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model.
Neuropharmacology, , Volume: 116, 2017
Neuropharmacology, , Volume: 116, 2017
Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome.
Proceedings of the National Academy of Sciences of the United States of America, , Apr-13, Volume: 107, Issue:15, 2010
Proceedings of the National Academy of Sciences of the United States of America, , Apr-13, Volume: 107, Issue:15, 2010
Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome.
Experimental neurology, , Volume: 220, Issue:2, 2009
Experimental neurology, , Volume: 220, Issue:2, 2009
Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors.
Current gene therapy, , Volume: 19, Issue:6, 2020
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel
Molecular autism, , Volume: 9, 2018
A randomized controlled trial of levodopa in patients with Angelman syndrome.
American journal of medical genetics. Part A, , Volume: 176, Issue:5, 2018
Pharmacological therapies for Angelman syndrome.
Wiener medizinische Wochenschrift (1946), , Volume: 167, Issue:9-10, 2017
Levodopa responsive Parkinsonism in adults with Angelman Syndrome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, , Volume: 8, Issue:5, 2001
Current gene therapy, , Volume: 19, Issue:6, 2020
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel
Molecular autism, , Volume: 9, 2018
A randomized controlled trial of levodopa in patients with Angelman syndrome.
American journal of medical genetics. Part A, , Volume: 176, Issue:5, 2018
Pharmacological therapies for Angelman syndrome.
Wiener medizinische Wochenschrift (1946), , Volume: 167, Issue:9-10, 2017
Levodopa responsive Parkinsonism in adults with Angelman Syndrome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, , Volume: 8, Issue:5, 2001
[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].
Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
Epigenetic imprinting during assisted reproductive technologies: The effect of temporal and cumulative fluctuations in methionine cycling on the DNA methylation state.
Molecular reproduction and development, , Volume: 83, Issue:2, 2016
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics, , May-18, Volume: 77, Issue:3, 1998
Molecular reproduction and development, , Volume: 83, Issue:2, 2016
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics, , May-18, Volume: 77, Issue:3, 1998
Unraveling the mechanisms of Angelman Syndrome.
Nature neuroscience, , Volume: 10, Issue:3, 2007
Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Apr-01, Volume: 23, Issue:7, 2003
Nature neuroscience, , Volume: 10, Issue:3, 2007
Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Apr-01, Volume: 23, Issue:7, 2003
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice.
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.
Neurology, , 02-16, Volume: 96, Issue:7, 2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, , Volume: 18, Issue:3, 2021
Upcoming market catalysts in Q3 2020.
Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Neurology, , 02-16, Volume: 96, Issue:7, 2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, , Volume: 18, Issue:3, 2021
Upcoming market catalysts in Q3 2020.
Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
DNA methylation in genomic imprinting.
Mutation research, , Volume: 386, Issue:2, 1997
Mutation research, , Volume: 386, Issue:2, 1997
Flurothyl-induced seizure paradigm revealed higher seizure susceptibility in middle-aged Angelman syndrome mouse model.
Brain & development, , Volume: 43, Issue:4, 2021
Brain & development, , Volume: 43, Issue:4, 2021
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
Sex-dependent influence of postweaning environmental enrichment in Angelman syndrome model mice.
Brain and behavior, , Volume: 12, Issue:2, 2022
Brain and behavior, , Volume: 12, Issue:2, 2022
Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model.
Neurobiology of disease, , Volume: 96, 2016
Neurobiology of disease, , Volume: 96, 2016
Enhancement of synaptic plasticity and reversal of impairments in motor and cognitive functions in a mouse model of Angelman Syndrome by a small neurogenic molecule, NSI-189.
Neuropharmacology, , Volume: 144, 2019
Neuropharmacology, , Volume: 144, 2019
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
Angelman syndrome: current understanding and research prospects.
Epilepsia, , Volume: 50, Issue:11, 2009
Epilepsia, , Volume: 50, Issue:11, 2009
Neurodevelopmental disorders. New hope for a devastating neurological disorder.
Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model.
Neuropharmacology, , Volume: 116, 2017
Neuropharmacology, , Volume: 116, 2017
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.
Neuron, , Apr-06, Volume: 90, Issue:1, 2016
Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome.
The European journal of neuroscience, , Volume: 39, Issue:6, 2014
Neuron, , Apr-06, Volume: 90, Issue:1, 2016
Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome.
The European journal of neuroscience, , Volume: 39, Issue:6, 2014
Reflex seizures in a patient with Angelman syndrome and trisomy 21.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, , Volume: 37, Issue:8, 2016
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, , Volume: 37, Issue:8, 2016
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model.
Neurobiology of disease, , Volume: 110, 2018
Neurobiology of disease, , Volume: 110, 2018
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.
Proceedings of the National Academy of Sciences of the United States of America, , Aug-20, Volume: 110, Issue:34, 2013
Silenced genes turned on to treat Angelman's syndrome.
Lab animal, , Jan-20, Volume: 41, Issue:2, 2012
Neurodevelopmental disorders. New hope for a devastating neurological disorder.
Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.
Nature, , Dec-21, Volume: 481, Issue:7380, 2011
[A new Topo to targeted management of Angelman syndrome?].
Medecine sciences : M/S, , Volume: 28, Issue:6-7
Proceedings of the National Academy of Sciences of the United States of America, , Aug-20, Volume: 110, Issue:34, 2013
Silenced genes turned on to treat Angelman's syndrome.
Lab animal, , Jan-20, Volume: 41, Issue:2, 2012
Neurodevelopmental disorders. New hope for a devastating neurological disorder.
Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.
Nature, , Dec-21, Volume: 481, Issue:7380, 2011
[A new Topo to targeted management of Angelman syndrome?].
Medecine sciences : M/S, , Volume: 28, Issue:6-7
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
Neurodevelopmental disorders. New hope for a devastating neurological disorder.
Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
Human molecular genetics, , Volume: 6, Issue:3, 1997
Upcoming market catalysts in Q3 2020.
Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Angelman syndrome: current understanding and research prospects.
Epilepsia, , Volume: 50, Issue:11, 2009
Epilepsia, , Volume: 50, Issue:11, 2009
Human disorders caused by the disruption of the regulation of excitatory neurotransmission.
Results and problems in cell differentiation, , Volume: 44, 2008
Results and problems in cell differentiation, , Volume: 44, 2008
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics, , May-18, Volume: 77, Issue:3, 1998
American journal of medical genetics, , May-18, Volume: 77, Issue:3, 1998
Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
Clinical chemistry, , Volume: 52, Issue:7, 2006
Clinical chemistry, , Volume: 52, Issue:7, 2006
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.
Human reproduction (Oxford, England), , Volume: 27, Issue:8, 2012
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
Molecular and cellular probes, , Volume: 21, Issue:3, 2007
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
Clinical chemistry, , Volume: 52, Issue:6, 2006
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
In-tube DNA methylation profiling by fluorescence melting curve analysis.
Clinical chemistry, , Volume: 47, Issue:7, 2001
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
Human reproduction (Oxford, England), , Volume: 27, Issue:8, 2012
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
Molecular and cellular probes, , Volume: 21, Issue:3, 2007
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
Clinical chemistry, , Volume: 52, Issue:6, 2006
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
Human mutation, , Volume: 20, Issue:4, 2002
In-tube DNA methylation profiling by fluorescence melting curve analysis.
Clinical chemistry, , Volume: 47, Issue:7, 2001
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome.
Epilepsia, , Volume: 46, Issue:12, 2005
Epilepsia, , Volume: 46, Issue:12, 2005
Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome.
Neuroscience, , Volume: 130, Issue:3, 2005
Neuroscience, , Volume: 130, Issue:3, 2005
Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development.
Orphanet journal of rare diseases, , Jun-22, Volume: 18, Issue:1, 2023
Orphanet journal of rare diseases, , Jun-22, Volume: 18, Issue:1, 2023
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
Asystole during outbursts of laughing in a child with Angelman syndrome.
Pediatric cardiology, , Volume: 26, Issue:6
Pediatric cardiology, , Volume: 26, Issue:6
The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins.
The Journal of biological chemistry, , Apr-17, Volume: 284, Issue:16, 2009
The Journal of biological chemistry, , Apr-17, Volume: 284, Issue:16, 2009
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Feb-27, Volume: 33, Issue:9, 2013
Dental findings and special care in patients with Angelman syndrome: a report of three cases.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, , Volume: 33, Issue:1
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, , Volume: 33, Issue:1
Vagal hypertonia and anesthesia in Angelman syndrome.
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
[Anesthesia in a patient with Angelman syndrome].
Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons.
Molecular neurobiology, , Volume: 55, Issue:9, 2018
Molecular neurobiology, , Volume: 55, Issue:9, 2018
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins.
The Journal of biological chemistry, , Apr-17, Volume: 284, Issue:16, 2009
The Journal of biological chemistry, , Apr-17, Volume: 284, Issue:16, 2009
Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome.
Neuroscience, , Volume: 130, Issue:3, 2005
Neuroscience, , Volume: 130, Issue:3, 2005
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Annals of laboratory medicine, , Jan-01, Volume: 42, Issue:1, 2022
Structural insight into recognition of methylated histone tails by retinoblastoma-binding protein 1.
The Journal of biological chemistry, , Mar-09, Volume: 287, Issue:11, 2012
[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
Zhonghua yi xue za zhi, , Dec-16, Volume: 88, Issue:46, 2008
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.
American journal of medical genetics. Part A, , Aug-01, Volume: 140, Issue:15, 2006
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
Human molecular genetics, , Volume: 8, Issue:4, 1999
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.
Human molecular genetics, , Volume: 8, Issue:2, 1999
Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.
American journal of human genetics, , Volume: 60, Issue:1, 1997
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
American journal of medical genetics, , Mar-29, Volume: 62, Issue:3, 1996
Angelman syndrome in an inbred family.
Human genetics, , Volume: 97, Issue:3, 1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
Proceedings of the National Academy of Sciences of the United States of America, , Jul-23, Volume: 93, Issue:15, 1996
PW71 methylation test for Prader-Willi and Angelman syndromes.
American journal of medical genetics, , Jan-11, Volume: 61, Issue:2, 1996
DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.
American journal of medical genetics, , Jan-11, Volume: 61, Issue:2, 1996
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?
American journal of human genetics, , Volume: 58, Issue:4, 1996
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
Human genetics, , Volume: 97, Issue:6, 1996
Homologous association of oppositely imprinted chromosomal domains.
Science (New York, N.Y.), , May-03, Volume: 272, Issue:5262, 1996
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
American journal of human genetics, , Volume: 58, Issue:2, 1996
DNA methylation pattern in Angelman syndrome.
Folia medica, , Volume: 37, Issue:4A Suppl, 1995
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Nature genetics, , Volume: 9, Issue:4, 1995
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.
American journal of medical genetics, , Apr-10, Volume: 56, Issue:3, 1995
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
Human genetics, , Volume: 95, Issue:5, 1995
Parental genomic imprinting.
Current opinion in pediatrics, , Volume: 7, Issue:4, 1995
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
American journal of human genetics, , Volume: 54, Issue:5, 1994
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Journal of medical genetics, , Volume: 30, Issue:9, 1993
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
American journal of medical genetics, , Oct-01, Volume: 47, Issue:5, 1993
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Human molecular genetics, , Volume: 2, Issue:9, 1993
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
Human genetics, , Volume: 90, Issue:3, 1992
MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS.
Genetic counseling (Geneva, Switzerland), , Volume: 27, Issue:4
Annals of laboratory medicine, , Jan-01, Volume: 42, Issue:1, 2022
Structural insight into recognition of methylated histone tails by retinoblastoma-binding protein 1.
The Journal of biological chemistry, , Mar-09, Volume: 287, Issue:11, 2012
[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
Zhonghua yi xue za zhi, , Dec-16, Volume: 88, Issue:46, 2008
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.
American journal of medical genetics. Part A, , Aug-01, Volume: 140, Issue:15, 2006
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
Human molecular genetics, , Volume: 8, Issue:4, 1999
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.
Human molecular genetics, , Volume: 8, Issue:2, 1999
Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.
American journal of human genetics, , Volume: 60, Issue:1, 1997
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
American journal of medical genetics, , Mar-29, Volume: 62, Issue:3, 1996
Angelman syndrome in an inbred family.
Human genetics, , Volume: 97, Issue:3, 1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
Proceedings of the National Academy of Sciences of the United States of America, , Jul-23, Volume: 93, Issue:15, 1996
PW71 methylation test for Prader-Willi and Angelman syndromes.
American journal of medical genetics, , Jan-11, Volume: 61, Issue:2, 1996
DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.
American journal of medical genetics, , Jan-11, Volume: 61, Issue:2, 1996
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?
American journal of human genetics, , Volume: 58, Issue:4, 1996
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
Human genetics, , Volume: 97, Issue:6, 1996
Homologous association of oppositely imprinted chromosomal domains.
Science (New York, N.Y.), , May-03, Volume: 272, Issue:5262, 1996
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
American journal of human genetics, , Volume: 58, Issue:2, 1996
DNA methylation pattern in Angelman syndrome.
Folia medica, , Volume: 37, Issue:4A Suppl, 1995
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Nature genetics, , Volume: 9, Issue:4, 1995
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.
American journal of medical genetics, , Apr-10, Volume: 56, Issue:3, 1995
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
Human genetics, , Volume: 95, Issue:5, 1995
Parental genomic imprinting.
Current opinion in pediatrics, , Volume: 7, Issue:4, 1995
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
American journal of human genetics, , Volume: 54, Issue:5, 1994
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Journal of medical genetics, , Volume: 30, Issue:9, 1993
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
American journal of medical genetics, , Oct-01, Volume: 47, Issue:5, 1993
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Human molecular genetics, , Volume: 2, Issue:9, 1993
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
Human genetics, , Volume: 90, Issue:3, 1992
MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS.
Genetic counseling (Geneva, Switzerland), , Volume: 27, Issue:4
Quality of Life in Angelman Syndrome: A Caregivers' Survey.
Pediatric neurology, , Volume: 149, 2023
Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice.
The Journal of clinical investigation, , 12-02, Volume: 129, Issue:12, 2019
Pediatric neurology, , Volume: 149, 2023
Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice.
The Journal of clinical investigation, , 12-02, Volume: 129, Issue:12, 2019
[Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy].
Klinische Padiatrie, , Volume: 220, Issue:1
Klinische Padiatrie, , Volume: 220, Issue:1
Topiramate therapy of epilepsy associated with Angelman's syndrome.
Neurology, , Mar-14, Volume: 54, Issue:5, 2000
Neurology, , Mar-14, Volume: 54, Issue:5, 2000
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.
The Journal of clinical investigation, , Volume: 125, Issue:5, 2015
The Journal of clinical investigation, , Volume: 125, Issue:5, 2015
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
Linoleic acid improves PIEZO2 dysfunction in a mouse model of Angelman Syndrome.
Nature communications, , 03-01, Volume: 14, Issue:1, 2023
Nature communications, , 03-01, Volume: 14, Issue:1, 2023
[Epilepsy in Angelman syndrome].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome.
Journal of child neurology, , Volume: 25, Issue:3, 2010
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome.
Journal of child neurology, , Volume: 25, Issue:3, 2010
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia, , Volume: 50, Issue:11, 2009
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice.
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Mar-26, Volume: 34, Issue:13, 2014
Topiramate therapy of epilepsy associated with Angelman's syndrome.
Neurology, , Mar-14, Volume: 54, Issue:5, 2000
Neurology, , Mar-14, Volume: 54, Issue:5, 2000
Anaesthesia and orphan disease: marked attenuation of motor evoked potentials by high-dose dexmedetomidine in a child with Angelman syndrome undergoing scoliosis surgery: A case report with pharmacokinetic analysis.
European journal of anaesthesiology, , Volume: 32, Issue:8, 2015
Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report.
Brazilian journal of anesthesiology (Elsevier), , Volume: 66, Issue:2
European journal of anaesthesiology, , Volume: 32, Issue:8, 2015
Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report.
Brazilian journal of anesthesiology (Elsevier), , Volume: 66, Issue:2
Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade.
Science (New York, N.Y.), , Nov-12, Volume: 286, Issue:5443, 1999
Science (New York, N.Y.), , Nov-12, Volume: 286, Issue:5443, 1999
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model.
Neuropharmacology, , Volume: 116, 2017
Neuropharmacology, , Volume: 116, 2017
Perampanel for nonepileptic myoclonus in Angelman syndrome.
Brain & development, , Volume: 42, Issue:5, 2020
Brain & development, , Volume: 42, Issue:5, 2020
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice.
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.
European journal of nuclear medicine, , Volume: 23, Issue:5, 1996
European journal of nuclear medicine, , Volume: 23, Issue:5, 1996
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Dec-09, Volume: 35, Issue:49, 2015
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Dec-09, Volume: 35, Issue:49, 2015
Regional cerebral blood flow in Angelman syndrome.
European journal of nuclear medicine, , Volume: 20, Issue:7, 1993
European journal of nuclear medicine, , Volume: 20, Issue:7, 1993
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
Cytogenetic and genome research, , Volume: 116, Issue:1-2, 2007
Imprinting analysis by droplet digital PCR coupled with locked nucleic acid TaqMan probes.
Epigenetics, , Volume: 16, Issue:7
Cytogenetic and genome research, , Volume: 116, Issue:1-2, 2007
Imprinting analysis by droplet digital PCR coupled with locked nucleic acid TaqMan probes.
Epigenetics, , Volume: 16, Issue:7
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Dec-09, Volume: 35, Issue:49, 2015
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 76, 2015
The Journal of neuroscience : the official journal of the Society for Neuroscience, , Dec-09, Volume: 35, Issue:49, 2015
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome.
Neurobiology of disease, , Volume: 76, 2015
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
European journal of human genetics : EJHG, , Volume: 17, Issue:1, 2009
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.
Nucleic acids research, , Volume: 35, Issue:21, 2007
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, , Volume: 5, Issue:3, 2000
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
American journal of medical genetics, , Dec-19, Volume: 73, Issue:3, 1997
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
European journal of human genetics : EJHG, , Volume: 5, Issue:2
Nucleic acids research, , Volume: 35, Issue:21, 2007
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, , Volume: 5, Issue:3, 2000
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
American journal of medical genetics, , Dec-19, Volume: 73, Issue:3, 1997
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
European journal of human genetics : EJHG, , Volume: 5, Issue:2
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].
Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
[Anesthetic management of a child with Angelman's syndrome].
Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].
Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice.
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Cellular and molecular life sciences : CMLS, , Volume: 73, Issue:22, 2016
Quantitative EEG Analysis in Angelman Syndrome: Candidate Method for Assessing Therapeutics.
Clinical EEG and neuroscience, , Volume: 54, Issue:2, 2023
Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors.
Current gene therapy, , Volume: 19, Issue:6, 2020
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel
Molecular autism, , Volume: 9, 2018
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).
Orphanet journal of rare diseases, , 08-20, Volume: 13, Issue:1, 2018
Pharmacological therapies for Angelman syndrome.
Wiener medizinische Wochenschrift (1946), , Volume: 167, Issue:9-10, 2017
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.
BMC neurology, , Dec-10, Volume: 14, 2014
Clinical EEG and neuroscience, , Volume: 54, Issue:2, 2023
Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors.
Current gene therapy, , Volume: 19, Issue:6, 2020
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel
Molecular autism, , Volume: 9, 2018
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).
Orphanet journal of rare diseases, , 08-20, Volume: 13, Issue:1, 2018
Pharmacological therapies for Angelman syndrome.
Wiener medizinische Wochenschrift (1946), , Volume: 167, Issue:9-10, 2017
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.
BMC neurology, , Dec-10, Volume: 14, 2014
Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.
The Journal of molecular diagnostics : JMD, , Volume: 13, Issue:6, 2011
The Journal of molecular diagnostics : JMD, , Volume: 13, Issue:6, 2011
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics, , May-18, Volume: 77, Issue:3, 1998
American journal of medical genetics, , May-18, Volume: 77, Issue:3, 1998
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Orphanet journal of rare diseases, , 10-22, Volume: 14, Issue:1, 2019
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
American journal of medical genetics. Part A, , Volume: 152A, Issue:8, 2010
Orphanet journal of rare diseases, , 10-22, Volume: 14, Issue:1, 2019
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
American journal of medical genetics. Part A, , Volume: 152A, Issue:8, 2010
Methylation analysis of the PWS/AS region does not support an enhancer-competition model.
Nature genetics, , Volume: 19, Issue:4, 1998
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics, , Volume: 8, Issue:1, 1994
Nature genetics, , Volume: 19, Issue:4, 1998
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics, , Volume: 6, Issue:3, 1997
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics, , Volume: 8, Issue:1, 1994
A Drosophila model for Angelman syndrome.
Proceedings of the National Academy of Sciences of the United States of America, , Aug-26, Volume: 105, Issue:34, 2008
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.
Human molecular genetics, , Sep-15, Volume: 15, Issue:18, 2006
Transmission of Angelman syndrome by an affected mother.
Genetics in medicine : official journal of the American College of Medical Genetics, , Volume: 1, Issue:6
Proceedings of the National Academy of Sciences of the United States of America, , Aug-26, Volume: 105, Issue:34, 2008
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.
Human molecular genetics, , Sep-15, Volume: 15, Issue:18, 2006
Transmission of Angelman syndrome by an affected mother.
Genetics in medicine : official journal of the American College of Medical Genetics, , Volume: 1, Issue:6