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C. Ewenczyk · SciRah

Researcher profile · Semantic Scholar

C. Ewenczyk

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C. Ewenczyk — researcher profile on SciRah

h-index: 31
Works: 84
Citations: 2,815

Most-cited papers

The coeruleus/subcoeruleus complex in rapid eye movement sleep behaviour disorders in Parkinson’s disease
D. García-Lorenzo, Clarisse Longo-Dos Santos, C. Ewenczyk, Smaranda Leu-Semenescu +8 more
2013Brain : a journal of neurology295 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
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, M. Hammer, G. Stevanin, M. Monin +31 more
2018JAMA Neurology124 citations Open access
Semantic Scholar
Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson's disease.
E. Biondetti, R. Gaurav, L. Yahia-Cherif, G. Mangone +8 more
2020Brain : a journal of neurology108 citations Open access
Semantic Scholar
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Marie Coutelier, Giulia Coarelli, M. Monin, J. Konop +23 more
2017Brain : a journal of neurology105 citations Open access
Semantic Scholar
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.
F. Pousset, L. Legrand, M. Monin, C. Ewenczyk +7 more
2015JAMA Neurology104 citations Open access
Semantic Scholar
COVID‐19‐related encephalopathy: a case series with brain FDG‐positron‐emission tomography/computed tomography findings
C. Delorme, O. Paccoud, A. Kas, A. Hesters +166 more
2020European Journal of Neurology103 citations Open access
Semantic Scholar
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
L. Parodi, S. Fenu, M. Barbier, G. Banneau +42 more
2018Brain : a journal of neurology102 citations Open access
Semantic Scholar
Longitudinal Changes in Neuromelanin MRI Signal in Parkinson's Disease: A Progression Marker
R. Gaurav, L. Yahia-Cherif, N. Pyatigorskaya, G. Mangone +8 more
2021Movement Disorders93 citations Open access
Semantic Scholar
PPNa-DBS for gait and balance disorders in Parkinson’s disease: a double-blind, randomised study
M. Welter, Adèle Demain, C. Ewenczyk, V. Czernecki +8 more
2015Journal of Neurology92 citations
Semantic Scholar
Comparative Study of MRI Biomarkers in the Substantia Nigra to Discriminate Idiopathic Parkinson Disease
N. Pyatigorskaya, B. Magnin, M. Mongin, L. Yahia-Cherif +6 more
2018American Journal of Neuroradiology81 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
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
C. Ewenczyk, A. Leroux, A. Roubergue, V. Laugel +6 more
2008Brain : a journal of neurology73 citations
Semantic Scholar
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
C. Marelli, F. Lamari, D. Rainteau, A. Lafourcade +25 more
2018Brain : a journal of neurology71 citations
Semantic Scholar
Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients
A. Traschütz, T. Schirinzi, L. Laugwitz, Nathan H. Murray +38 more
2020Annals of Neurology69 citations Open access
Semantic Scholar
Pedunculopontine network dysfunction in Parkinson's disease with postural control and sleep disorders
C. Galléa, C. Ewenczyk, B. Degos, M. Welter +15 more
2017Movement Disorders66 citations
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
Jean-Loup Méreaux, C. Davoine, D. Pellerin, Giulia Coarelli +43 more
2023EBioMedicine59 citations Open access
Semantic Scholar
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency
M. Anheim, E. Maillart, S. Vuillaumier-Barrot, Constance Flamand‐Rouvière +5 more
2011Journal of Neurology57 citations
Semantic Scholar
Highlighting the Dystonic Phenotype Related to GNAO1
T. Wirth, Giacomo Garone, M. Kurian, A. Piton +40 more
2022Movement Disorders56 citations Open access
Semantic Scholar
Multimodal magnetic resonance imaging investigation of basal forebrain damage and cognitive deficits in Parkinson's disease
Fatma Gargouri, C. Galléa, M. Mongin, N. Pyatigorskaya +6 more
2018Movement Disorders51 citations Open access
Semantic Scholar
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Giulia Coarelli, Rebecca Schule, B. C. van de Warrenburg, P. de Jonghe +32 more
2019Neurology49 citations Open access
Semantic Scholar
Motor neuron pathology in CANVAS due to RFC1 expansions.
V. Huin, Giulia Coarelli, C. Guémy, Susana Boluda +21 more
2021Brain : a journal of neurology46 citations Open access
Semantic Scholar
Medulla oblongata damage and cardiac autonomic dysfunction in Parkinson disease
N. Pyatigorskaya, M. Mongin, R. Valabrègue, L. Yahia-Cherif +6 more
2016Neurology46 citations
Semantic Scholar
Interruption of deep brain stimulation of the globus pallidus in primary generalized dystonia
D. Grabli, C. Ewenczyk, Maria-Clara Coelho-Braga, C. Lagrange +5 more
2009Movement Disorders45 citations Open access
Semantic Scholar
Functional classification of ATM variants in ataxia‐telangiectasia patients
A. Fiévet, D. Bellanger, Guillaume Rieunier, C. Dubois d'Enghien +42 more
2019Human Mutation39 citations Open access
Semantic Scholar
Multimodal Magnetic Resonance Imaging Quantification of Brain Changes in Progressive Supranuclear Palsy
N. Pyatigorskaya, L. Yahia-Cherif, R. Gaurav, C. Ewenczyk +11 more
2019Movement Disorders37 citations
Semantic Scholar
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
M. Barbier, C. Davoine, Emilien Petit, M. Porché +18 more
2022Genetics in Medicine36 citations Open access
Semantic Scholar
Antisaccade, a predictive marker for freezing of gait in Parkinson's disease and gait/gaze network connectivity.
C. Galléa, Benoît Wicki, C. Ewenczyk, S. Rivaud-Péchoux +4 more
2020Brain : a journal of neurology36 citations Open access
Semantic Scholar
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Giulia Coarelli, Anna Heinzmann, C. Ewenczyk, C. Fischer +16 more
2022Lancet Neurology33 citations Open access
Semantic Scholar
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
M. Benkirane, C. Marelli, C. Guissart, A. Roubertie +81 more
2021Genetics in Medicine32 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
Parkinson Disease Propagation Using MRI Biomarkers and Partial Least Squares Path Modeling
N. Pyatigorskaya, L. Yahia-Cherif, R. Valabrègue, R. Gaurav +7 more
2020Neurology31 citations
Semantic Scholar
Antisaccades in Parkinson disease
C. Ewenczyk, S. Mesmoudi, C. Galléa, M. Welter +10 more
2017Neurology31 citations
Semantic Scholar
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
J. Ravel, M. Benkirane, N. Calmels, C. Marelli +24 more
2021Journal of Neurology27 citations
Semantic Scholar
Low cancer prevalence in polyglutamine expansion diseases
Giulia Coarelli, Alhassane Diallo, M. S. Thion, D. Rinaldi +16 more
2017Neurology26 citations
Semantic Scholar
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein
L. Mariani, S. Rivaud-Péchoux, P. Charles, C. Ewenczyk +21 more
2017Scientific Reports25 citations Open access
Semantic Scholar
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
M. Barbier, M. Bahlo, Alessandra Pennisi, Maxime Jacoupy +26 more
2022Annals of Neurology23 citations Open access
Semantic Scholar
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
R. Dard, C. Meyniel, V. Touitou, G. Stevanin +4 more
2017European Journal of Medical Genetics22 citations
Semantic Scholar
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
Jean-Loup Méreaux, C. Davoine, Marie Coutelier, L. Guillot-nöel +11 more
2023Journal of Medical Genetics21 citations Open access
Semantic Scholar
Implication of folate deficiency in CYP2U1 loss of function
C. Pujol, A. Legrand, L. Parodi, P. Thomas +44 more
2021Journal of Experimental Medicine18 citations Open access
Semantic Scholar
Deciphering the natural history of SCA7 in children
Maissa G. Bah, D. Rodriguez, C. Cazeneuve, F. Mochel +30 more
2020European Journal of Neurology17 citations Open access
Semantic Scholar
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
A. Legrand, C. Pujol, C. Durand, A. Mesnil +22 more
2020Journal of Internal Medicine16 citations
Semantic Scholar
Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study.
L. Legrand, J. Weinsaft, F. Pousset, C. Ewenczyk +6 more
2021Archives of Cardiovascular Diseases14 citations Open access
Semantic Scholar
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia, M. Plaze, Isabelle Ber, C. Ewenczyk +22 more
2020Journal of Neurology14 citations
Semantic Scholar
Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study
L. Legrand, A. Diallo, M. Monin, C. Ewenczyk +6 more
2019American Journal of Cardiovascular Drugs14 citations
Semantic Scholar
SARA captures disparate progression and responsiveness in spinocerebellar ataxias
Emilien Petit, T. Schmitz-Hübsch, G. Coarelli, H. Jacobi +22 more
2024Journal of Neurology13 citations Open access
Semantic Scholar
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
S. Montaut, E. Apartis, J. Chanson, C. Ewenczyk +9 more
2017Parkinsonism & Related Disorders11 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
Significance of NT-proBNP and High-Sensitivity Troponin in Friedreich Ataxia
L. Legrand, C. Maupain, M. Monin, C. Ewenczyk +4 more
2020Journal of Clinical Medicine9 citations Open access
Semantic Scholar

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