Kolexia
Schalk Audrey Biologie médicale
Schalk Audrey
Biologie médicale
Hôpital Civil
Strasbourg, France
25 Activités
21 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Ataxies spinocérébelleuses Ataxie Atrophie Ataxie cérébelleuse Dystonie Dégénérescences spinocérébelleuses Atrophie multisystématisée Disomie uniparentale Dyskinésies

Collaborateurs

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Calmels Nadege
Calmels Nadege
Hôpital Civil, Strasbourg, France
Wirth Thomas
Wirth Thomas
Hôpital Hautepierre, Strasbourg, France
Tranchant Christine
Tranchant Christine
Hôpital Civil, Strasbourg, France
Scheidecker Sophie
Scheidecker Sophie
Hôpital Hautepierre, Strasbourg, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2018
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Dernières activités

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Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Movement disorders : official journal of the Movement Disorder Society   04 mars 2024
"Recurrent familial case of early childhood sudden death: complex post mortem genetic investigations"
Forensic science international. Genetics   02 mars 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Journal of neurology   23 janvier 2024
A syndrome can hide another: a case of Tay-Sachs disease associated with Prader-Willi syndrome secondary to maternal uniparental disomy of chromosome 15
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.
Gene   13 octobre 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
Two Different Compound Heterozygous Variants Combinations in the Same Family.
Movement disorders clinical practice   20 mars 2023
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Annals of neurology   18 novembre 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
American journal of medical genetics. Part A   05 octobre 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