Ana Cuesta
- The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001/12/17 by Ana Cuesta, Laia Pedrola, Teresa Sevilla +11 · 297 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Allele #Biology #Gene #Genetics #Hereditary Neurological Disorders #Locus (genetics) #Mutant #Mutation #Neurological diseases and metabolism #Nuclear Structure and Function #Phenotype #Tooth disease
- 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