Eva Nelis

1. 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
2. GDAP1 mutations in Czech families with early-onset CMT
   2007/04/12 by L. Baránková, Emílie Vyhnálková, E. Vyhnálková +18 · 17 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Allele frequency #Biology #Caveolin-1 and cellular processes #Czech #Gene #Genetics #Hereditary Neurological Disorders #Medicine #Missense mutation #Mutation #Nonsense mutation #Population #Signaling Pathways in Disease
3. 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