Kolexia
Ewenczyk Claire Neurologie
Ewenczyk Claire
Neurologie
Hôpital Pitie Salpetriere
Paris, France
79 Activités
26 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Ataxie Ataxie cérébelleuse Maladie de Parkinson Ataxie de Friedreich Ataxies spinocérébelleuses Syndromes parkinsoniens Cardiomyopathies Paraplégie spasmodique héréditaire Paraplégie

Collaborateurs

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Durr Alexandra
Durr Alexandra
Hôpital Pitie Salpetriere, Paris, France
Anheim Mathieu
Anheim Mathieu
Hôpital Hautepierre, Strasbourg, France
Charles Perrine
Charles Perrine
Hôpital Pitie Salpetriere, Paris, France
Monin Marie-Lorraine
Monin Marie-Lorraine
Samsah Adapt, Bordeaux, France

Industries

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Merz
2 collaboration(s)
Dernière en 2022
Sanofi
1 collaboration(s)
Dernière en 2023
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Dernières activités

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FGF14 : a frequent new causal expansion in cerebellar ataxias
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine   26 décembre 2023
End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.
Neurology. Clinical practice   16 octobre 2023
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Annals of clinical and translational neurology   28 août 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
American journal of human genetics   09 juin 2023
EFACTS: Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Essai Clinique (European Friedreich's Ataxia Consortium for Translational Studies)   05 mai 2023
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.
Annals of physical and rehabilitation medicine   05 avril 2023
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Journal of medical genetics   04 janvier 2023
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Genetics in medicine : official journal of the American College of Medical Genetics   23 novembre 2022
Prediction of the disease course in Friedreich ataxia.
Scientific reports   10 novembre 2022