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Claudia Stendel

Observed names: C Stendel, C. Stendel, Stendel C, Stendel Claudia, Stendel, C., Stendel, Claudia
Observed institutions: Inserm, Paracelsus Medical University, German Center for Neurodegenerative Diseases, Karolinska Institutet, LMU Klinikum, ETH Zurich, Assistance Publique – Hôpitaux de Paris, Munich Cluster for Systems Neurology, Essen University Hospital, Universitätsklinikum Aachen, Pitié-Salpêtrière Hospital, Salzburger Landeskliniken, Institute of Molecular Health Sciences, Institut für Humangenetik, Université Pierre-et-Marie-Curie, University of Rostock, École Polytechnique Fédérale de Lausanne, University of Duisburg-Essen, University of Göttingen, University of Tübingen, Ludwig-Maximilians-Universität München, RWTH Aachen University, University of Lausanne
ORCID: 0000-0002-4234-8393
Observed ORCID: 0000-0002-4234-8393
OpenAlex ID: A5073735143
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
2005 · Jan Senderek, Michael Krieger, et al. · Nature Genetics · 252
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
2003 · Jan Senderek, Carsten Bergmann, et al. · The American Journal of Human Genetics · 215
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Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3
2009 · Jan Senderek, Sean M. Garvey, et al. · The American Journal of Human Genetics · 179
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Transcriptional regulator PRDM12 is essential for human pain perception
2015 · Ya-Chun Chen, Michaela Auer-Grumbach, et al. · Nature Genetics · 171
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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study
2016 · Kathrin Reetz, Imis Dogan, et al. · The Lancet Neurology · 156
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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4
2007 · Claudia Stendel, Andreas Roos, et al. · The American Journal of Human Genetics · 135
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MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
2019 · Rebecca D. Ganetzky, Claudia Stendel, et al. · Human Mutation · 131
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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
2016 · Matthis Synofzik, Katrien Smets, et al. · Brain · 129
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
2009 · Estelle Arnaud, Jennifer Zenker, et al. · Proceedings of the National Academy of Sciences · 121
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
2017 · Martina Minnerop, Delia Kurzwelly, et al. · Brain · 120
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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
2017 · Ludger Schöls, Tim W Rattay, et al. · Brain · 111
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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
2006 · H. Azzedine, N. Ravisé, et al. · Neurology · 107
Delineating MT-ATP6 -associated disease
2020 · Claudia Stendel, Christiane Neuhofer, et al. · Neurology Genetics · 105
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SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
2010 · Claudia Stendel, Andreas Roos, et al. · Brain · 100
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
2021 · Kathrin Reetz, Imis Dogan, et al. · The Lancet Neurology · 98
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
2013 · Michael Krieger, Andreas Roos, et al. · Brain · 90
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Nonataxia symptoms in Friedreich Ataxia
2018 · Kathrin Reetz, Imis Dogan, et al. · Neurology · 85
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Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy
2023 · Amel Karaa, Enrico Bertini, et al. · Neurology · 80
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Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
2021 · Pavel Schischlevskij, Isabell Cordts, et al. · Brain Sciences · 70
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Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
2012 · Michael Horn, Reto Baumann, et al. · Brain · 70
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PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis
2019 · Luca Bartesaghi, Yiqiao Wang, et al. · Cell Reports · 55
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Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia
2021 · Katharina Feil, Christine Adrion, et al. · JAMA Network Open · 42
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PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease
2013 · Hamid Azzedine, Petra Zavadakova, et al. · Human Molecular Genetics · 42
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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
2023 · Paulina Cunha, Emilien Petit, et al. · The American Journal of Human Genetics · 33
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Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial
2017 · Katharina Feil, Christine Adrion, et al. · BMC Neurology · 25
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Works count: 69
Citation count: 2,900
H-index: 25
I10-index: 34
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