Kolexia
Cazeneuve Cecile Pharmacien
Cazeneuve Cecile
Pharmacien
Hôpital Femme Mère Enfant
Bron, France
60 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies du motoneurone Sclérose latérale amyotrophique Sclérose Ataxies spinocérébelleuses Ataxie Prédisposition génétique à une maladie Démence frontotemporale Démence Maladie de Huntington

Collaborateurs

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Brice Alexis
Brice Alexis
Hôpital Pitie Salpetriere, Paris, France
Le Guern Eric
Le Guern Eric
Hôpital Pitie Salpetriere, Paris, France
Durr Alexandra
Durr Alexandra
Hôpital Pitie Salpetriere, Paris, France
Camu William
Camu William
Hôpital Gui de Chauliac, Montpellier, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2020
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Dernières activités

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Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clinical genetics   14 février 2024
ALPK3 gene in cardiomyopathies: Which phenotypes? Which mode of inheritance?
JESFC 2023   01 janvier 2023
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Journal of neurology   23 juillet 2022
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Molecular diagnosis & therapy   15 juillet 2022
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Brain : a journal of neurology   14 décembre 2021
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with Compound Heterozygous Mutations.
Genes   25 novembre 2021
Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   24 août 2021
Propensity for somatic expansion increases over the course of life in Huntington disease.
eLife   13 mai 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Molecular diagnosis & therapy   05 mai 2021
Impact of a frequent nearsplice variant in amyotrophic lateral sclerosis: optimising genetic screening for gene therapy opportunities.
Journal of neurology, neurosurgery, and psychiatry   30 mars 2021