- 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
- Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
2003/09/16 by Nadia Ammar, Eva Nelis, Luciano Merlini +9 · 45 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Anatomy #Biology #Cellular Mechanics and Interactions #Endocrinology #Ganglioside #Gene #Genetics #Hereditary Neurological Disorders #Medicine #Mutation #Nerve biopsy #Nerve conduction velocity #Paresis #Pathology #Peripheral Neuropathies and Disorders #Peripheral neuropathy #Tooth disease
- Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene
2003/04/01 by Nazha Birouk, Hamid Azzedine, O. Dubourg +9 · 77 citations
Neuroscience · Medicine · Biochemistry, Genetics and Molecular Biology · #Hereditary Neurological Disorders #Peripheral Neuropathies and Disorders #Nuclear Structure and Function #Pathological #Nerve biopsy #Pathology #Hereditary motor and sensory neuropathy #Mutation #Disease #Consanguinity #Phenotype #Medicine #Genetic heterogeneity #Biology #Degenerative disease #Genetics #Gene #Peripheral neuropathy #Endocrinology #Diabetes mellitus
- Mutations in GDAP1
2002/12/24 by Eva Nelis, Sevim Erdem‐Özdamar, Peter Van den Bergh +14 · 158 citations
Neuroscience · Medicine · Biochemistry, Genetics and Molecular Biology · #Hereditary Neurological Disorders #Peripheral Neuropathies and Disorders #Caveolin-1 and cellular processes #Missense mutation #Exon #Nerve biopsy #Nonsense mutation #Mutation #Locus (genetics) #Phenotype #Pathology #Genetics #Biology #Medicine #Molecular biology #Gene #Peripheral neuropathy #Endocrinology