valine has been researched along with Atrophy, Muscular, Peroneal in 6 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 4 (66.67) | 29.6817 |
| 2010's | 1 (16.67) | 24.3611 |
| 2020's | 1 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Bauer, C; Grosse, GM; Kopp, B; Osmanovic, A; Schrader, C | 1 |
| Conte, A; Del Grande, A; Fabrizi, GM; Luigetti, M; Sabatelli, M; Taioli, F | 1 |
| Floroskufi, P; Kalfakis, N; Karadima, G; Panas, M; Vassilopoulos, D | 2 |
| Alevra, X; Christodoulou, K; Georgiou, DM; Hadjisavvas, A; Kleopa, KA; Kyriakides, T; Nicolaou, P; Zamba-Papanicolaou, E | 1 |
| Aoki, A; Ohnishi, A; Tsuji, S; Yamamoto, T | 1 |
6 other study(ies) available for valine and Atrophy, Muscular, Peroneal
| Article | Year |
|---|---|
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
Topics: Adult; Alanine; Amino Acid Substitution; Charcot-Marie-Tooth Disease; Family; Female; Gene Frequency; Genes, Dominant; Germany; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide; Septins; Valine; Young Adult | 2020 |
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
Topics: Adult; Alanine; Charcot-Marie-Tooth Disease; Electrodiagnosis; Female; GTP Phosphohydrolases; Humans; Mitochondrial Proteins; Neural Conduction; Point Mutation; Sural Nerve; Valine | 2011 |
A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
Topics: Adult; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Connexins; DNA Mutational Analysis; Female; Gap Junction beta-1 Protein; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Mutation, Missense; Neural Conduction; Pedigree; Peripheral Nerves; Protein Structure, Tertiary; Valine | 2004 |
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
Topics: Adolescent; Adult; Aged; Aspartic Acid; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Codon, Terminator; Connexins; DNA Mutational Analysis; Family Health; Female; Gap Junction beta-1 Protein; Humans; Leucine; Male; Middle Aged; Mutation; Phenotype; Phenylalanine; Proline; Serine; Tyrosine; Valine | 2006 |
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Topics: Aged; Amino Acid Substitution; Central Nervous System Diseases; Charcot-Marie-Tooth Disease; Connexins; Demyelinating Diseases; Electromyography; Female; Gap Junction beta-1 Protein; Glutamic Acid; HeLa Cells; Humans; Leucine; Male; Middle Aged; Mutation, Missense; Neural Conduction; Pedigree; Phenotype; Polyneuropathies; Proline; Sural Nerve; Valine | 2006 |
[A case of Charcot-Marie-Tooth disease 1 B with Val 146Phe mutation of myelin protein zero showing a severe clinical phenotype].
Topics: Adolescent; Amino Acid Substitution; Charcot-Marie-Tooth Disease; Humans; Male; Myelin P0 Protein; Neural Conduction; Peripheral Nerves; Phenylalanine; Point Mutation; Severity of Illness Index; Valine | 2000 |