Kolexia
Bonnet Celine
Biologie médicale
Hôpital Brabois
Vandoeuvre-lès-Nancy, France
93 Activités
65 Followers

Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Ataxie Délétion de segment de chromosome Ataxie cérébelleuse Aberrations des chromosomes Malformations multiples Ataxies spinocérébelleuses Hypogonadisme Paraplégie spasmodique héréditaire

Industries

Bayer
1 collaboration(s)
Dernière en 2017
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Dernières activités

Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.
American journal of medical genetics. Part A   08 mars 2024
Neuroradiological findings in GAA- ataxia (SCA27B): more than cerebellar atrophy.
medRxiv : the preprint server for health sciences   18 février 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Journal of neurology   23 janvier 2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine   26 décembre 2023
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).
Neurology. Genetics   08 décembre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
European journal of medical genetics   25 septembre 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Brain communications   10 septembre 2023
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Movement disorders : official journal of the Movement Disorder Society   21 août 2023
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Movement disorders : official journal of the Movement Disorder Society   20 juillet 2023