Els De Vriendt - Concepedia

Author

Els De Vriendt

Also Known As

De Vriendt, E., E De Vriendt, E de Vriendt, E. D. Vriendt, E. De VRIENDT, E. De Vriendt, E.D. Vriendt, ELS De VRIENDT, Els De Vriendt, Els De Vriendt

Publications

Citations

H-Index

Concepts

All Affiliations

University of Antwerp Antwerp University Hospital VIB-UAntwerp Center for Molecular Neurology Medical University of Sofia Vlaams Instituut voor Biotechnologie

About

Els De Vriendt is an author at University of Antwerp specializing in medicine, genetics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	17	2.4K
2	Social Sciences	5	5	849
3	Natural Sciences	1	1	10
4	Biochemistry	1	1	366
5	Biology	1	1	69

Els De Vriendt

Publications

Citations

H-Index

Page 1

	Year	Citations
Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy Kristien Verhoeven, Peter De Jonghe, Katrien Coen, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderGeneticsMolecular Biology	2003	452
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy Joy Irobi, Katrien Van Impe, Pavel Seeman, Nature Genetics Peripheral NervesProtein FoldingMedicineExperimental NeuropathologyHot-spot Residue	2004	416
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy Albena Jordanova, Joy Irobi, Florian P. Thomas, Nature Genetics Molecular NeuroscienceBiochemistryNeuroanatomyMutant Tyrosyl-trna SynthetaseMedicine	2006	366
Mutations in SEPT9 cause hereditary neuralgic amyotrophy Gregor Kuhlenbäumer, Mark Hannibal, Eva Nelis, Nature Genetics Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMolecular NeuroscienceGenetic DisorderGenetics	2005	259
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype Peter De Jonghe, Vincent Timmerman, C. Ceuterick, Brain	1999	221
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, The American Journal of Human Genetics Molecular NeuroscienceMolecular PhysiologyAutonomic Neuropathy TypeGenetic DisorderMendelian Disorder	2010	186
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation Annelies Rotthier, Jonathan Baets, Els De Vriendt, Brain	2009	165
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Feng Zhang, Pavel Seeman, Pengfei Liu, The American Journal of Human Genetics Genome InstabilityGenetic DisorderGeneticsRare CnvsGenomic Mechanism	2010	161
Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype Vincent Timmerman, Peter De Jonghe, C. Ceuterick, Neurology	1999	153
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza, The American Journal of Human Genetics KinesiologyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease	2013	137

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