Eva Nelis
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Botulinum Toxin and Related Neurological Disorders, Cellular Mechanics and Interactions
Most-Cited Works
- → Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A(2004)1,546 cited
- → Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)(1991)598 cited
- → Estimation of the Mutation Frequenciesin Charcot-Marie-Tooth Disease Type 1and Hereditary Neuropathy withLiability to Pressure Palsies:A European Collaborative Study(1996)423 cited
- → The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication(1992)391 cited
- → Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination(1996)362 cited
- → Mutations in SEPT9 cause hereditary neuralgic amyotrophy(2005)260 cited
- → The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype(1999)221 cited
- → Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies(1999)214 cited
- → Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy(2003)210 cited
- → Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E(2001)204 cited