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Els De Vriendt | doi.page

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Els De Vriendt

VIB-UAntwerp Center for Molecular Neurology(BE)

Publications by Year

Research Areas

Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, RNA Research and Splicing, Neurogenetic and Muscular Disorders Research

Most-Cited Works

→ Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy(2003)452 cited
→ Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy(2004)417 cited
→ Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy(2006)369 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 SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I(2010)186 cited
→

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

(2009)

165 cited

→ Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability(2010)161 cited

→ Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype(1999)153 cited

→ Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance(2013)139 cited