3-methylglutaconic acid has been researched along with Optic Atrophy in 11 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 6 (54.55) | 18.2507 |
| 2000's | 1 (9.09) | 29.6817 |
| 2010's | 4 (36.36) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ryan, RO; Su, B | 1 |
| Anikster, Y; Blumkin, L; Carmi, N; Kivity, S; Lerman-Sagie, T; Leshinsky-Silver, E; Lev, D; Zerem, A | 1 |
| Christodoulou, J; Ho, G; Walter, JH | 1 |
| Anikster, Y; Bernardini, I; Burgess, HA; Ciccone, C; Dorward, H; Feldman, B; Huizing, M; Kelley, RI; Kratz, LE; Pei, W; Sood, R; Yokogawa, T | 1 |
| Anikster, Y; Barth, PG; Duran, M; Morava, E; Sperl, W; Wevers, RA; Wortmann, SB; Zschocke, J | 1 |
| Costeff, H; Elpeleg, ON; Gibson, KM; Joseph, A; Shental, Y; Weitz, R | 1 |
| Lerman-Sagie, T | 1 |
| Apter, N; Costeff, H; Divry, P; Elpeleg, O; Gadoth, N | 1 |
| Apter, N; Bonné-Tamir, B; Costeff, H; Elpeleg, ON; Haider, N; Mohrenweiser, H; Nystuen, A; Sheffield, VC; Stone, EM | 1 |
| Apter, N; Böhles, HJ; Costeff, H; Elpeleg, ON; Prialnic, M | 1 |
| Al-Essa, M; Al-Shamsan, L; Bakheet, S; Ozand, PT; Patay, Z; Powe, J | 1 |
3 review(s) available for 3-methylglutaconic acid and Optic Atrophy
| Article | Year |
|---|---|
Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.
Topics: Acetyl Coenzyme A; Acyl Coenzyme A; Animals; Cardiolipins; Chorea; Citric Acid Cycle; Glutarates; Humans; Metabolism, Inborn Errors; Mitochondrial Proteins; Optic Atrophy; Phosphatidylglycerols; Smith-Lemli-Opitz Syndrome; Spastic Paraplegia, Hereditary; Terpenes | 2014 |
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Topics: Adolescent; Adolescent Development; Biomarkers; Chorea; Codon, Nonsense; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Glutarates; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Optic Atrophy; Pedigree; Phenotype; Proteins; Spastic Paraplegia, Hereditary | 2008 |
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
Topics: Abnormalities, Multiple; Barth Syndrome; Cardiomyopathy, Dilated; Cerebellar Ataxia; Chorea; Diagnosis, Differential; Glutarates; Humans; Metabolism, Inborn Errors; Optic Atrophy; Spastic Paraplegia, Hereditary; Terminology as Topic | 2013 |
1 trial(s) available for 3-methylglutaconic acid and Optic Atrophy
| Article | Year |
|---|---|
Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3.
Topics: Administration, Oral; Adolescent; Adult; Child; Coenzymes; Cross-Over Studies; Female; Glutarates; Humans; Male; Movement Disorders; Neuromuscular Diseases; Optic Atrophy; Single-Blind Method; Treatment Failure; Ubiquinone; Visual Acuity | 1998 |
7 other study(ies) available for 3-methylglutaconic acid and Optic Atrophy
| Article | Year |
|---|---|
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
Topics: Basal Ganglia Diseases; Child, Preschool; Chorea; Consanguinity; Electroencephalography; Female; Glutarates; Humans; Jews; Metabolism, Inborn Errors; Muscle Spasticity; Optic Atrophy; Proteins; Psychomotor Agitation; Seizures; Sleep; Spastic Paraplegia, Hereditary; Status Epilepticus | 2015 |
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Topics: Acyl Coenzyme A; Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Electron Transport; Glutarates; Membrane Proteins; Mitochondria; Models, Biological; Models, Genetic; Optic Atrophy; Phosphorylation; Proteins; Zebrafish; Zebrafish Proteins | 2010 |
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
Topics: Adolescent; Adult; Child; Child, Preschool; Cognition Disorders; Female; Glutarates; Humans; Iraq; Jews; Male; Meglutol; Movement Disorders; Optic Atrophy; Syndrome | 1994 |
Behr syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child; Glutarates; Humans; Meglutol; Optic Atrophy; Syndrome | 1995 |
3-Methylglutaconic aciduria in "optic atrophy plus".
Topics: Adolescent; Adult; Ataxia; Child; Female; Glutarates; Humans; Male; Optic Atrophy; Paraplegia; Syndrome | 1993 |
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
Topics: Chromosome Mapping; Chromosomes, Human, Pair 19; Creatine Kinase; DNA Primers; Female; Genetic Markers; Genetic Testing; Genotype; Glutarates; Humans; Iraq; Isoenzymes; Jews; Linkage Disequilibrium; Lod Score; Male; Myotonin-Protein Kinase; Optic Atrophy; Pedigree; Polymorphism, Genetic; Protein Serine-Threonine Kinases; Trinucleotide Repeats | 1997 |
18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations.
Topics: Brain; Brain Diseases; Child; Child, Preschool; Fluorodeoxyglucose F18; Glutarates; Humans; Magnetic Resonance Imaging; Male; Movement Disorders; Nervous System Diseases; Optic Atrophy; Paraplegia; Radiopharmaceuticals; Retrospective Studies; Tomography, Emission-Computed | 1999 |