Reyes Claramunt
- GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
2005/03/16 by Laia Pedrola, Antonio Espert, Xingyao Wu +3 · 182 citations
Neuroscience · #Hereditary Neurological Disorders #Genetic Neurodegenerative Diseases #Neurological diseases and metabolism #Biology #Mitochondrion #Degenerative disease #Disease #Genetics #Type (biology) #Cell biology #Central nervous system disease #Neuroscience #Internal medicine
- Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
2005/04/01 by Reyes Claramunt, L Pedrola, T Sevilla +10 · 147 citations
Neuroscience · Medicine · #Hereditary Neurological Disorders #Botulinum Toxin and Related Neurological Disorders #Pes cavus #Hereditary motor and sensory neuropathy #Medicine #Nerve biopsy #Weakness #Sensory loss #Hypotonia #Hyporeflexia #Genetic heterogeneity #Peripheral neuropathy #Pathology #Disease #Anatomy #Genetics #Biology #Pediatrics #Phenotype #Surgery #Gene #Endocrinology