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C. Stendel · SciRah

Researcher profile · Semantic Scholar

C. Stendel

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C. Stendel — researcher profile on SciRah

h-index: 23
Works: 50
Citations: 2,520

Most-cited papers

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J. Senderek, M. Krieger, C. Stendel, C. Bergmann +21 more
2005Nature Genetics254 citations Open access
Semantic Scholar
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
J. Senderek, C. Bergmann, C. Stendel, J. Kirfel +27 more
2003American Journal of Human Genetics203 citations Open access
Semantic Scholar
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
J. Senderek, S. Garvey, M. Krieger, V. Guergueltcheva +19 more
2009American Journal of Human Genetics179 citations Open access
Semantic Scholar
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, M. Auer-Grumbach, S. Matsukawa, M. Zitzelsberger +55 more
2015Nature Genetics166 citations Open access
Semantic Scholar
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
C. Stendel, A. Roos, T. Deconinck, Jorge A. Pereira +20 more
2007American Journal of Human Genetics136 citations Open access
Semantic Scholar
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
K. Reetz, I. Dogan, R. Hilgers, P. Giunti +36 more
2016Lancet Neurology135 citations Open access
Semantic Scholar
MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Rebecca D Ganetzky, C. Stendel, E. McCormick, Z. Zolkipli-Cunningham +3 more
2019Human Mutation120 citations Open access
Semantic Scholar
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
M. Synofzik, K. Smets, M. Mallaret, D. Di Bella +26 more
2016Brain : a journal of neurology117 citations Open access
Semantic Scholar
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
E. Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, C. Stendel +9 more
2009Proceedings of the National Academy of Sciences of the United States of America116 citations Open access
Semantic Scholar
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
H. Azzedine, N. Ravisé, Christophe Verny, A. Gabreëls-Festen +16 more
2006Neurology109 citations
Semantic Scholar
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
M. Minnerop, D. Kurzwelly, H. Wagner, A. Soehn +52 more
2017Brain : a journal of neurology105 citations Open access
Semantic Scholar
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
L. Schöls, Tim W. Rattay, P. Martus, C. Meisner +30 more
2017Brain : a journal of neurology103 citations Open access
Semantic Scholar
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
C. Stendel, A. Roos, Henning Kleine, E. Arnaud +11 more
2010Brain : a journal of neurology103 citations Open access
Semantic Scholar
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
M. Krieger, A. Roos, C. Stendel, K. Claeys +30 more
2013Brain : a journal of neurology83 citations Open access
Semantic Scholar
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
K. Reetz, I. Dogan, R. Hilgers, P. Giunti +19 more
2021Lancet Neurology78 citations Open access
Semantic Scholar
Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
Michael Horn, Reto Baumann, Jorge A. Pereira, Páris N. M. Sidiropoulos +9 more
2012Brain : a journal of neurology67 citations Open access
Semantic Scholar
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
Pavel Schischlevskij, I. Cordts, R. Günther, B. Stolte +24 more
2021Brain Science64 citations Open access
Semantic Scholar
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis
Luca Bartesaghi, Yiqiao Wang, P. Fontanet, Simone Wanderoy +23 more
2019Cell Reports47 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics42 citations Open access
Semantic Scholar
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
H. Azzedine, P. Zavadáková, V. Planté-Bordeneuve, M. Vaz Pato +26 more
2013Human Molecular Genetics37 citations Open access
Semantic Scholar
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia
Katharina Feil, C. Adrion, S. Boesch, S. Doss +13 more
2021JAMA Network Open32 citations Open access
Semantic Scholar
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli +68 more
2023American Journal of Human Genetics31 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics26 citations Open access
Semantic Scholar
International Paediatric Mitochondrial Disease Scale
S. Koene, J. Hendriks, Ilse Dirks, L. de Boer +14 more
2016Journal of Inherited Metabolic Disease23 citations Open access
Semantic Scholar
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
K. Feil, C. Adrion, J. Teufel, S. Bösch +17 more
2017BMC Neurology20 citations Open access
Semantic Scholar
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia
D. Oender, J. Faber, C. Wilke, T. Schaprian +24 more
2023Movement Disorders19 citations Open access
Semantic Scholar
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
C. Stendel, M. C. D'Adamo, M. Wiessner, M. Dusl +7 more
2020International Journal of Molecular Sciences19 citations Open access
Semantic Scholar
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation
J. Smeitink, J. V. van Es, B. Bosman, M. Janssen +16 more
2024Brain : a journal of neurology17 citations Open access
Semantic Scholar
Small Rho GTPases are key regulators of peripheral nerve biology in health and disease
Sven M. Krause, C. Stendel, J. Senderek, J. Relvas +1 more
2008Journal of the peripheral nervous system12 citations
Semantic Scholar
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review
C. Stendel, M. Wagner, G. Rudolph, T. Klopstock
2019Neuropediatrics11 citations
Semantic Scholar
Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene
C. Stendel, C. Gallenmüller, K. Peters, Friederike Bürger +3 more
2015Journal of Neurology10 citations
Semantic Scholar
Prediction of the disease course in Friedreich ataxia
C. Hohenfeld, Ulrich Terstiege, I. Dogan, P. Giunti +21 more
2022Scientific Reports9 citations Open access
Semantic Scholar
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset
L. Porcu, M. Fichera, L. Nanetti, E. Rulli +21 more
2023Annals of Clinical and Translational Neurology6 citations Open access
Semantic Scholar
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis
J. Kern, J. Böhringer, D. Timmann, Regina Trollmann +9 more
2023Neurology5 citations
Semantic Scholar
Mast Syndrome Outside the Amish Community: SPG21 in Europe
Matthias Amprosi, E. Indelicato, W. Nachbauer, A. Hussl +5 more
2022Frontiers in Neurology4 citations Open access
Semantic Scholar
PLEKHG 5 deficiency leads to an intermediate form of autosomal-recessive Charcot – Marie – Tooth disease
H. Azzedine, P. Zavadáková, V. Planté-Bordeneuve, M. V. Pato +26 more
20134 citations
Semantic Scholar
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, R. D. Incebacak Eltemur, G. Demidov, Marc Sturm +137 more
2026Nature Communications3 citations Open access
Semantic Scholar
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
J. Kirfel, J. Senderek, M. Moser, Anke Röper +4 more
2006Gene Expression Patterns3 citations
Semantic Scholar
-1-Progression characteristics in Friedreich’s Ataxia: 4-year analysis of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS)
K. Reetz, I. Dogan, R. Hilgers, P. Giunti +20 more
20212 citations
Semantic Scholar
Correction for Arnaud et al., SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
E. Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, C. Stendel +9 more
2010Proceedings of the National Academy of Sciences of the United States of America2 citations Open access
Semantic Scholar
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study
S. A. Lischewski, Kerstin Konrad, I. Dogan, C. Didszun +22 more
2025European Journal of Neurology1 citations Open access
Semantic Scholar
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, M. Auer-Grumbach, S. Matsukawa, M. Zitzelsberger +55 more
2015Nature Genetics1 citations Open access
Semantic Scholar
Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study
S. A. Lischewski, I. Dogan, Paola Giunti, Michael H. Parkinson +19 more
2025Movement Disorders0 citations Open access
Semantic Scholar
Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐Associated Ataxia
Benjamin Roeben, E. Bültmann, C. Stendel, M. Synofzik
2022Annals of Neurology0 citations Open access
Semantic Scholar
Progression Characteristics in Friedreich's Ataxia: A 4-Year Observational Study
K. Reetz, I. Dogan, R. Hilgers, P. Giunti +18 more
2020Social Science Research Network0 citations
Semantic Scholar
[Risk genes in myopathies and mitochondrial diseases].
C. Stendel, M. Walter, Thomas Klopstock
2017Der Nervenarzt0 citations
Semantic Scholar
Correction for SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
E. Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, C. Stendel +9 more
20100 citations
Semantic Scholar
Autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein matrin 3
J. Senderek, S. Garvey, M. Krieger, I. Tournev +18 more
20090 citations
Semantic Scholar
G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3
J. Senderek, S. Garvey, M. Krieger, I. Tournev +18 more
20090 citations
Semantic Scholar
P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J. Senderek, M. Krieger, C. Stendel, K. N. North +8 more
20060 citations
Semantic Scholar

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