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Claudia Stendel | Researchclopedia

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Claudia Stendel

German Center for Neurodegenerative Diseases ORCID

51

Works

2,695

Citations

24

h-index

30

i10-index

Research Topics

Genetic Neurodegenerative Diseases Mitochondrial Function and Pathology Hereditary Neurological Disorders

Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg2023–2023

Paracelsus Medical University2020–2020

Durham Technical Community College2009–2009

Temple College2009–2009

German Center for Neurodegenerative Diseases2015–2025

Top Works

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek,Michael J. B. Krieger,et al.

2005249 citations

Parkinson's Disease Mechanisms and Treatments

Metabolism and Genetic Disorders

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek,Carsten Bergmann,et al.

2003210 citations

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,et al.

2009176 citations

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen,Michaela Auer‐Grumbach,et al.

2015171 citations

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Kathrin Reetz,Imis Dogan,et al.

2016151 citations

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Claudia Stendel,Andreas Roos,et al.

2007132 citations

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Matthis Synofzik,Katrien Smets,et al.

2016125 citations

<i>MT-ATP6</i>mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Rebecca Ganetzky,Claudia Stendel,et al.

2019122 citations

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Martina Minnerop,Delia Kurzwelly,et al.

2017119 citations