Kolexia
Koenig Michel Médecine générale
Koenig Michel
Médecine générale
CHU Montpellier
Limoges, France
152 Activités
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{{person.topmesh1.name}} Ataxie Ataxie cérébelleuse Apraxies Maladies musculaires Spasticité musculaire Dégénérescences spinocérébelleuses Mucoviscidose Paraplégie Ataxie de Friedreich

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Anheim Mathieu
Anheim Mathieu
Hôpital Hautepierre, Strasbourg, France
Tranchant Christine
Tranchant Christine
Hôpital Civil, Strasbourg, France
Guissart Claire
Guissart Claire
Hôpital Carémeau, Nîmes, France
Claustres Mireille
Claustres Mireille
CHU Montpellier, Limoges, France

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Dernières activités

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Titin copy number variations associated with dominant inherited phenotypes.
Journal of medical genetics   07 novembre 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
International journal of molecular sciences   15 avril 2023
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain : a journal of neurology   26 janvier 2023
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society   23 décembre 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genetics in medicine : official journal of the American College of Medical Genetics   04 novembre 2022
The inherited cerebellar ataxias: an update.
Journal of neurology   24 septembre 2022
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Journal of neurology   23 juillet 2022
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Scientific reports   06 juillet 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
The Journal of molecular diagnostics : JMD   14 mai 2022
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022