cysteine and CADASILM

cysteine has been researched along with CADASILM in 44 studies

Research

Studies (44)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	11 (25.00)	29.6817
2010's	17 (38.64)	24.3611
2020's	16 (36.36)	2.80

Authors

Authors	Studies
Gatti, JR; Ivanova, MI; Keep, SG; Lee, SJ; Rojas Ramírez, C; Ruotolo, BT; Wang, MM; Young, KZ; Zhang, X	1
Cartee, NMP; Lee, SJ; Wang, MM; Young, KZ; Zhang, X	1
Li, HF; Ni, W; Wu, ZY; Xie, JJ; Zhang, L; Zhang, Y	1
Bae, JS; Kim, C; Kim, Y; Lee, JH; Lee, JY; Lee, M; Lee, SH; Song, HK	1
Lee, SJ; Sukpraphrute, C; Sukpraphrute, R; Wang, MM; Wu, E; Ye, A; Zhang, X	1
Kuo, PH; Lin, E; Liu, YL; Tsai, SJ; Wang, TJ; Yang, AC	1
Huang, L; Li, W; Li, Y; Song, C; Sun, X; Wang, H; Wang, P	1
Chang, MH; Chung, CP; Lee, YC; Liao, YC; Wang, SJ	1
Aartsma-Rus, A; Baas, F; Brouwer, G; Dauwerse, JG; Gravesteijn, G; Hegeman, I; Jost, CR; Kruit, MC; Lesnik Oberstein, SAJ; Mulder, AA; Overzier, M; Rutten, JW; Terwindt, GM; van Duinen, SG	1
Kim, H; Kim, KK; Lee, EJ; Lim, YM; Oh, YJ	1
Dauwerse, JG; Dichgans, M; Duering, M; Gravesteijn, G; Hack, RJ; Holstege, H; Lesnik Oberstein, SAJ; Malik, R; Nho, K; Overzier, M; Rutten, JW; Saykin, A; Slagboom, E; van den Akker, EB	1
Hedera, P	1
Abedi, V; Griessenauer, CJ; Hack, RJ; Khan, A; Lesnik Oberstein, SAJ; Li, J; Person, TN; Rutten, JW; Zand, R	1
Ando, Y; Kano, Y; Mizuno, T; Mizuta, I; Nozaki, H; Onodera, O; Sakurai, K; Ueda, A; Yamada, K; Yuasa, H	1
Cartee, NMP; Ivanova, MI; Keep, SG; Lee, SJ; Wang, MM; Young, KZ	1
Arboix, A; Fernández-Cadenas, I; Muiño, E	1
Chen, S; Li, HF; Liu, HQ; Lu, C; Ni, W; Wang, N; Wu, L; Wu, ZY; Xu, YF; Yin, XZ; Zhang, L; Zhao, GX; Zheng, QJ	1
Carrera, C; Cullell, N; Fernández-Cadenas, I; Gallego-Fabrega, C; Krupinski, J; Montaner, J; Muiño, E; Roquer, J; Torres, N	1
Kuriyama, M; Mizuno, T; Mizuta, I; Shiga, Y; Shimoe, Y; Tachiyama, K	1
Ando, Y; Itoh, K; Kushimura, Y; Mizuno, T; Mizuta, I; Mukai, M; Nakashima, D; Noto, YI; Ohara, T; Ueda, A	1
Bernardi, L; Bianchi, S; Bruni, AC; D'Eramo, C; Di Donato, I; Dotti, MT; Federico, A; Gallus, GN; Maletta, R; Puccio, G	1
Campolo, J; De Maria, R; Federico, A; Frontali, M; Inzitari, D; Mariotti, C; Parodi, O; Parolini, M; Taroni, F; Tomasello, C; Valenti, R	1
Bermejo-Velasco, P; Calero, M; Serrano-Heranz, R; Zea-Sevilla, MA	1
Bayer-Karpinska, A; Bäzner, H; Dichgans, M; Duering, M; Giese, A; Haffner, C; Hanecker, P; Malik, R; Moreton, F; Muir, KW; Müller, S; Opherk, C; Wollenweber, FA	1
Lesnik Oberstein, S; Rutten, J; van Duinen, S	1
Duering, M; Haffner, C; Wollenweber, FA	1
Berbellini, A; Cozzolino, V; De Michele, G; Gobbato, R; Manca, A; Paci, C; Peluso, S; Pianese, L; Ragno, M; Sanguigni, S	1
Aartsma-Rus, AM; Dauwerse, HG; Goldfarb, A; Haffner, C; Lesnik Oberstein, SA; Peters, DJ; Rutten, JW; van Ommen, GJ; Venselaar, H	1
Fukuda, H; Ihara, M; Mizuno, T; Saito, S; Tojima, M; Yamamoto, Y	1
Conedera, S; Funayama, M; Hattori, N; Hosaka, Y; Ikeda, A; Li, Y; Matsushima, T; Motoi, Y; Nishioka, K; Okuzumi, A; Shimada, Y; Tanaka, R; Yamashiro, K; Yoshino, H	1
Froster, UG; Heinritz, W; Leyhe, T; Scheid, R; Schober, R; Strenge, S; Thal, DR; von Cramon, DY	1
Fushiki, S; Itoh, K; Kawabe, K; Kawase, Y; Kudeken, T; Mizuno, T; Muranishi, M; Nagakane, Y; Nakagawa, M; Oshima, F; Tango, H; Torugun, T; Yaoi, T	1
Mazzei, R; Quattrone, A	1
Cacchiò, G; Caiazzo, AR; Di Marzio, F; Manca, A; Mirabella, M; Pianese, L; Ragno, M; Scarcella, M; Silvaggio, F; Silvestri, S; Tasca, G; Trojano, L	1
Mizuno, T; Nakagawa, M; Tanaka, M; Watanabe, Y; Watanabe-Hosomi, A	1
Bajcetic, M; Dobricic, V; Lackovic, V; Novakovic, I; Pavlovic, AM; Semnic, R; Sternic, N	1
Bono, F; Caracciolo, M; Cenacchi, G; Conforti, FL; Fera, F; Gabriele, AL; Gallo, O; Lanza, PL; Lupo, MR; Magariello, A; Mazzei, R; Muglia, M; Patitucci, A; Quattrone, A; Santoro, G; Sprovieri, T; Valentino, P	1
Juvonen, V; Kalimo, H; Lundkvist, J; Mykkänen, K; Penttinen, M; Pöyhönen, M; Savontaus, ML; Sistonen, P; Tuisku, S; Tuominen, S; Viitanen, M	1
Beatus, P; Dannaeus, K; Hansson, EM; Johansson, CB; Kalimo, H; Karlström, H; Lendahl, U; Lundkvist, J; Miao, Q; Mohammed, A; Rozell, B; Schweinhardt, P; Spenger, C; Viitanen, M; Zhu, S	1
Akman-Demir, G; Albayram, S; Altintaş, A; Apak, MY; Işik, N; Kayserili, H; Oz, B; Saip, S; Siva, A; Taşyürekli, M; Uyguner, ZO; Wollnik, B	1
Alvarez, V; Coto, E; García-Castro, M; Menéndez, M; Navarro, R	1
Cacchiò, G; Fabrizi, GM; Ferrarini, M; Ragno, M; Scarcella, M; Selvaggio, F; Sirocchi, G; Taioli, F; Trojano, L	1
Babinet, C; Cohen-Tannoudji, M; Domenga, V; Gridley, T; Joutel, A; Langa, F; Lemaire, B; Monet, M; Souilhol, C; Tournier-Lasserve, E	1
Azan, G; Doriguzzi, C; Mauro, A; Pradotto, L; Valentini, C	1

Reviews

4 review(s) available for cysteine and CADASILM

Article	Year
Genotype and Phenotype Differences in CADASIL from an Asian Perspective. International journal of molecular sciences, 2022, Sep-29, Volume: 23, Issue:19 Topics: CADASIL; Cysteine; Exons; Genotype; Humans; Magnetic Resonance Imaging; Mutation; Phenotype; Receptor, Notch3; Receptors, Notch	2022
Contribution of "Omic" Studies to the Understanding of Cadasil. A Systematic Review. International journal of molecular sciences, 2021, Jul-08, Volume: 22, Issue:14 Topics: CADASIL; Cysteine; Gastrointestinal Microbiome; Gene Frequency; Gene Ontology; Genetic Association Studies; Genome-Wide Association Study; Genomics; Humans; Models, Molecular; Mutation; Nerve Tissue Proteins; Prevalence; Prognosis; Protein Aggregation, Pathological; Protein Conformation; Protein Domains; Proteomics; Receptor, Notch3; Sequence Analysis, DNA; Transcriptome	2021
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL. International journal of molecular sciences, 2017, Sep-13, Volume: 18, Issue:9 Topics: Biopsy; CADASIL; Cysteine; Databases, Factual; Exons; Humans; Magnetic Resonance Imaging; Mutation, Missense; Polymorphism, Genetic; Receptor, Notch3	2017
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy with a Novel NOTCH3 Cys323Trp Mutation Presenting Border-Zone Infarcts: A Case Report and Literature Review. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association, 2016, Volume: 25, Issue:8 Topics: Brain Infarction; CADASIL; Cysteine; Humans; Male; Middle Aged; Mutation; Neuroimaging; Receptor, Notch3; Tryptophan	2016

Other Studies

40 other study(ies) available for cysteine and CADASILM

Article	Year
Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia. Communications biology, 2022, 04-07, Volume: 5, Issue:1 Topics: CADASIL; Cysteine; Dementia, Vascular; Disulfides; Humans; Mutant Proteins; Receptor, Notch3; Receptors, Notch; Tandem Mass Spectrometry	2022
Trans-Reduction of Cerebral Small Vessel Disease Proteins by Notch-Derived EGF-like Sequences. International journal of molecular sciences, 2022, Mar-27, Volume: 23, Issue:7 Topics: CADASIL; Cerebral Small Vessel Diseases; Cysteine; Epidermal Growth Factor; Humans; Mutation; Receptor, Notch3; Receptors, Notch	2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations. CNS neuroscience & therapeutics, 2022, Volume: 28, Issue:11 Topics: CADASIL; Cysteine; Humans; Magnetic Resonance Imaging; Mutation; Phenotype; Receptor, Notch3; Receptors, Notch	2022
Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations. The Journal of biological chemistry, 2023, Volume: 299, Issue:6 Topics: CADASIL; Cysteine; Disulfides; Epidermal Growth Factor; Humans; Mutation; Receptor, Notch3	2023
The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank. Journal of neurology, 2023, Volume: 270, Issue:11 Topics: Biological Specimen Banks; Blood Pressure; CADASIL; Cysteine; Humans; Magnetic Resonance Imaging; Mutation; Phenotype; Receptor, Notch3; Receptors, Notch; Stroke; Taiwan	2023
A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family. Neurogenetics, 2020, Volume: 21, Issue:1 Topics: Asian People; CADASIL; Cell Survival; China; Cysteine; Female; HEK293 Cells; Humans; Male; Middle Aged; Pedigree; Protein Aggregation, Pathological; Receptor, Notch3	2020
Neurology, 2020, 01-07, Volume: 94, Issue:1 Topics: Adult; Age Factors; Aged; CADASIL; Cysteine; Female; Genetic Variation; Genotype; Humans; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Receptor, Notch3; Risk Factors; Stroke; Taiwan; White Matter; Young Adult	2020
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients. Human molecular genetics, 2020, 07-21, Volume: 29, Issue:11 Topics: Adult; Aged; Biopsy; CADASIL; CRISPR-Cas Systems; Cysteine; Exons; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Protein Aggregation, Pathological; Receptor, Notch3; Severity of Illness Index; Skin; White Matter	2020
Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations. PloS one, 2020, Volume: 15, Issue:6 Topics: Adult; Aged; Brain; CADASIL; Cysteine; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Polymorphism, Single Nucleotide; Receptor, Notch3; Retrospective Studies; Risk Factors; Sex Factors; Stroke; Temporal Lobe	2020
Broad phenotype of cysteine-altering Neurology, 2020, 09-29, Volume: 95, Issue:13 Topics: Adult; Age Factors; Aged; Aged, 80 and over; Biological Specimen Banks; Brain; CADASIL; Case-Control Studies; Cysteine; Ethnicity; Female; Genotype; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Netherlands; Neuroimaging; Penetrance; Receptor, Notch3; Registries; United Kingdom; White Matter	2020
Neurology, 2020, 09-29, Volume: 95, Issue:13 Topics: Biological Specimen Banks; CADASIL; Cysteine; Humans; Phenotype; Receptor, Notch3; United Kingdom	2020
Cysteine-Altering Stroke, 2020, Volume: 51, Issue:12 Topics: Adult; Age Factors; Aged; CADASIL; Cerebral Small Vessel Diseases; Cysteine; Female; Genetic Predisposition to Disease; Humans; Ischemic Attack, Transient; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Proportional Hazards Models; Protein Domains; Receptor, Notch3; Stroke	2020
Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Internal medicine (Tokyo, Japan), 2021, Aug-01, Volume: 60, Issue:15 Topics: CADASIL; Cysteine; Heterozygote; Humans; Japan; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Receptor, Notch3	2021
Electrophilic and Drug-Induced Stimulation of NOTCH3 N-terminal Fragment Oligomerization in Cerebrovascular Pathology. Translational stroke research, 2021, Volume: 12, Issue:6 Topics: Brain; CADASIL; Cysteine; Humans; Mutation; Pharmaceutical Preparations; Receptor, Notch3; Receptors, Notch	2021
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study. CNS neuroscience & therapeutics, 2017, Volume: 23, Issue:9 Topics: Adult; Age of Onset; Arginine; Asian People; CADASIL; Cysteine; Exons; Female; Genetic Association Studies; Haplotypes; HEK293 Cells; Humans; Male; Middle Aged; Mutation; Receptor, Notch3; Retrospective Studies; Transfection	2017
[CADASIL with cysteine-sparing NOTCH3 mutation manifesting as dissociated progression between cognitive impairment and brain image findings in 3 years: A case report]. Rinsho shinkeigaku = Clinical neurology, 2018, Apr-25, Volume: 58, Issue:4 Topics: Atrophy; Brain; CADASIL; Cerebrovascular Circulation; Cognition; Cognitive Dysfunction; Cysteine; Disease Progression; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Piperazines; Receptor, Notch3; Time Factors	2018
A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically. Journal of the neurological sciences, 2018, 11-15, Volume: 394 Topics: Arginine; Asian People; CADASIL; Cysteine; Humans; Magnetic Resonance Imaging; Male; Microscopy, Electron, Scanning; Middle Aged; Mutation; Receptor, Notch3; Skin	2018
First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. Neurobiology of aging, 2013, Volume: 34, Issue:9 Topics: Age of Onset; Aged; Alternative Splicing; CADASIL; Cysteine; DNA; Fatal Outcome; Female; Genome, Human; Humans; Introns; Male; Middle Aged; Mutation, Missense; Receptor, Notch3; Receptors, Notch; Siblings	2013
Is the oxidant/antioxidant status altered in CADASIL patients? PloS one, 2013, Volume: 8, Issue:6 Topics: Adult; Antioxidants; CADASIL; Case-Control Studies; Cysteine; Dipeptides; Female; Glutathione; Homocysteine; Humans; Male; Middle Aged; Oxidants; Oxidation-Reduction; Oxidative Stress; Tyrosine	2013
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene. Journal of Alzheimer's disease : JAD, 2015, Volume: 43, Issue:2 Topics: Aged; Arginine; Brain; CADASIL; Cysteine; Family Health; Female; Genetic Association Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Receptor, Notch3; Receptors, Notch	2015
Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro. Stroke, 2015, Volume: 46, Issue:3 Topics: Aged; Biopsy; CADASIL; Cysteine; Female; Humans; Magnetic Resonance Imaging; Male; Mutation; Protein Binding; Protein Folding; Receptor, Notch3; Receptors, Notch; Sequence Analysis, DNA; Skin	2015
Letter by Rutten et al Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro". Stroke, 2015, Volume: 46, Issue:6 Topics: CADASIL; Cysteine; Female; Humans; Male; Mutation; Receptors, Notch	2015
Response to Letter Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro". Stroke, 2015, Volume: 46, Issue:6 Topics: CADASIL; Cysteine; Female; Humans; Male; Mutation; Receptors, Notch	2015
Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016, Volume: 37, Issue:6 Topics: Aged; Arginine; CADASIL; Cysteine; Humans; Male; Mutation; Parkinson Disease; Receptor, Notch3; Twins, Monozygotic; Ultrasonography, Doppler, Transcranial	2016
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. Brain : a journal of neurology, 2016, Volume: 139, Issue:Pt 4 Topics: Amino Acid Sequence; CADASIL; Cysteine; Exons; Genetic Therapy; HEK293 Cells; Humans; Molecular Sequence Data; Muscle, Smooth, Vascular; Organ Culture Techniques; Protein Structure, Secondary; Receptor, Notch3; Receptors, Notch	2016
Genotype-phenotype correlations of cysteine replacement in CADASIL. Neurobiology of aging, 2017, Volume: 50 Topics: Adult; Aged; CADASIL; Cysteine; Exons; External Capsule; Female; Genes, Dominant; Genetic Association Studies; Genotype; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Neuroimaging; Phenotype; Receptor, Notch3; White Matter	2017
Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology, 2008, Sep-02, Volume: 71, Issue:10 Topics: Aged; CADASIL; Cysteine; DNA Mutational Analysis; Female; Humans; Middle Aged; Mutation; Receptor, Notch3; Receptors, Notch	2008
Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue. Internal medicine (Tokyo, Japan), 2008, Volume: 47, Issue:23 Topics: Asian People; CADASIL; Cysteine; Female; Humans; Male; Middle Aged; Mutation; Pedigree; Receptor, Notch3; Receptors, Notch	2008
Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology, 2009, Jun-16, Volume: 72, Issue:24 Topics: CADASIL; Cysteine; Exons; Genetic Predisposition to Disease; Genetic Variation; Humans; Introns; Muscle, Smooth, Vascular; Mutation; Phenotype; Polymorphism, Single Nucleotide; Receptor, Notch3; Receptors, Notch	2009
Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation. Neuroscience letters, 2012, Jan-06, Volume: 506, Issue:1 Topics: Adult; Aged; Aged, 80 and over; Arginine; CADASIL; Cardiovascular Abnormalities; Cholesterol; Creatine Kinase; Cysteine; Disease Progression; Electromyography; Family Health; Female; Gene Frequency; Genotype; Humans; Italy; Magnetic Resonance Imaging; Male; Middle Aged; Muscle, Skeletal; Mutation; Neural Conduction; Neurophysiology; Neuropsychological Tests; Phenotype; Receptor, Notch3; Receptors, Notch; Tomography, X-Ray Computed	2012
Transendocytosis is impaired in CADASIL-mutant NOTCH3. Experimental neurology, 2012, Volume: 233, Issue:1 Topics: Analysis of Variance; Arginine; Biotinylation; CADASIL; Calcium-Binding Proteins; Cell Line, Transformed; Coculture Techniques; Cysteine; Endocytosis; Gene Expression Regulation; Green Fluorescent Proteins; Humans; Intercellular Signaling Peptides and Proteins; Jagged-1 Protein; Ligands; Membrane Proteins; Mutation; Protein Transport; Receptor, Notch3; Receptors, Notch; Serrate-Jagged Proteins; Transfection	2012
A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family. Acta neurologica Belgica, 2013, Volume: 113, Issue:3 Topics: Brain; CADASIL; Cysteine; Family Health; Female; Genetic Testing; Glycine; Humans; Magnetic Resonance Imaging; Middle Aged; Mutation; Receptor, Notch3; Receptors, Notch; Serbia	2013
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. Neurology, 2004, Aug-10, Volume: 63, Issue:3 Topics: Adult; Aged; CADASIL; Chromatography, High Pressure Liquid; Cysteine; Exons; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Pedigree; Protein Folding; Protein Structure, Tertiary; Proto-Oncogene Proteins; Receptor, Notch3; Receptors, Cell Surface; Receptors, Notch; Repetitive Sequences, Amino Acid; Sequence Deletion; Structure-Activity Relationship	2004
Detection of the founder effect in Finnish CADASIL families. European journal of human genetics : EJHG, 2004, Volume: 12, Issue:10 Topics: Amino Acid Substitution; Arginine; CADASIL; Chromosomes, Human, Pair 19; Cysteine; Female; Finland; Founder Effect; Gene Frequency; Haplotypes; Humans; Male; Microsatellite Repeats; Pedigree; Point Mutation; Proto-Oncogene Proteins; Receptor, Notch3; Receptors, Cell Surface; Receptors, Notch	2004
Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype. Genesis (New York, N.Y. : 2000), 2005, Volume: 41, Issue:1 Topics: Amino Acid Substitution; Animals; Aorta, Thoracic; Behavior, Animal; Blotting, Western; CADASIL; Carotid Artery, Common; Cysteine; Germ-Line Mutation; Magnetic Resonance Imaging; Male; Mice; Mice, Mutant Strains; Phenotype; Polymerase Chain Reaction; Proto-Oncogene Proteins; Receptor, Notch4; Receptors, Cell Surface; Receptors, Notch; Sequence Analysis, DNA; Thoracic Vertebrae; Ultrasonography	2005
The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome. Journal of the neurological sciences, 2006, Jul-15, Volume: 246, Issue:1-2 Topics: Adult; Age of Onset; Aged; Brain; CADASIL; Cysteine; DNA; Exons; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Pedigree; Phenotype; Receptor, Notch3; Receptors, Notch; Turkey	2006
A new de novo Notch3 mutation causing CADASIL. European journal of neurology, 2006, Volume: 13, Issue:6 Topics: Adult; CADASIL; Cysteine; DNA Mutational Analysis; Glycine; Humans; Magnetic Resonance Imaging; Male; Mutation; Receptor, Notch3; Receptors, Notch; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger	2006
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006, Volume: 27, Issue:4 Topics: Aged; Arginine; CADASIL; Cysteine; DNA Mutational Analysis; Exons; Family Health; Female; Humans; Italy; Male; Middle Aged; Mutation; Neuropsychological Tests; Receptor, Notch3; Receptors, Notch	2006
The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Human molecular genetics, 2007, Apr-15, Volume: 16, Issue:8 Topics: Aging; Animals; Arginine; CADASIL; Cerebral Arteries; Cysteine; Immunoglobulin J Recombination Signal Sequence-Binding Protein; Intracranial Arterial Diseases; Lac Operon; Mice; Mice, Knockout; Mutant Proteins; Mutation, Missense; Protein Structure, Tertiary; Receptor, Notch3; Receptors, Notch; Transgenes	2007
Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene. Journal of the neurological sciences, 2008, Aug-15, Volume: 271, Issue:1-2 Topics: CADASIL; Cysteine; DNA Mutational Analysis; Exons; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Mutation, Missense; Receptor, Notch3; Receptors, Notch; Tryptophan	2008