Claudia Stendel - Concepedia

Author

Claudia Stendel

Ludwig-Maximilians-Universität München ORCID

Also Known As

C Stendel, C. Stendel, Claudia Stendel, Ivan Karin, Thomas Klopstock

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Ludwig-Maximilians-Universität München Friedrich Baur Stiftung German Center for Neurodegenerative Diseases Munich Cluster for Systems Neurology Hertie Institute for Clinical Brain Research

About

Claudia Stendel is an author at Ludwig-Maximilians-Universität München specializing in medicine, neurology, and neurodegenerative diseases.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	1.5K
2	Cell Biology	2	2	241
3	Health Sciences	1	1	170
4	Social Sciences	1	1	132
5	Immunology	1	1	85

Claudia Stendel

Publications

2.4K

Citations

H-Index

Page 1

	Year	Citations
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Jan Senderek, Michael J. B. Krieger, Claudia Stendel, Nature Genetics Mendelian DisorderOphthalmologyGenetic DisorderGeneticsPathology	2005	248
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy Jan Senderek, Carsten Bergmann, Claudia Stendel, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceMendelian DisorderGenetic DisorderGenetics	2003	210
Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3 Jan Senderek, Sean M. Garvey, Michael J. B. Krieger, The American Journal of Human Genetics Rare DiseasesRecurrent Missense MutationMendelian DisorderGenetic DisorderGenetics	2009	175
Transcriptional regulator PRDM12 is essential for human pain perception Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa, Nature Genetics Pain SyndromeSignal TransductionHealth SciencesPain MedicineMolecular Pain	2015	170
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study Kathrin Reetz, Imis Dogan, R.-D Hilgers, The Lancet Neurology Neurodegenerative DiseasesNeurobiology Of DiseaseProgression CharacteristicsNeurological DisorderNeuroepidemiology	2016	150
Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 Claudia Stendel, Andreas Roos, Tine Deconinck, The American Journal of Human Genetics Peripheral Nerve DemyelinationNeurodegenerative DiseasesMolecular NeurosciencePeripheral Nerve InjuryMedicine	2007	132
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study Matthis Synofzik, Katrien Smets, Martial Mallaret, Brain Neurological DisorderGeneticsLarge Multi-centre StudySyne1 MutationsDisease Gene Identification	2016	123
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia Martina Minnerop, Delia Kurzwelly, Holger Wagner, Brain	2017	118
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system Estelle Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, Proceedings of the National Academy of Sciences	2009	113
Spine deformities in Charcot-Marie-Tooth 4C caused by <i>SH3TC2</i> gene mutations Hamid Azzedine, N. Ravisé, Christophe Verny, Neurology	2006	104

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