Kolexia
Guyant-Marechal Lucie
Neurologie
Hôpital Charles Nicolle
Rouen, France
75 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Ataxie Maladie d'Alzheimer Ataxies spinocérébelleuses Démence Ataxie cérébelleuse Paraplégie Maladies neurodégénératives Tremblement Migraines

Industries

LFB
3 collaboration(s)
Dernière en 2022
Pfizer
3 collaboration(s)
Dernière en 2023
A+A
2 collaboration(s)
Dernière en 2020
Adept Field Solutions
1 collaboration(s)
Dernière en 2020

Dernières activités

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine   26 décembre 2023
Titin copy number variations associated with dominant inherited phenotypes.
Journal of medical genetics   07 novembre 2023
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Journal of the peripheral nervous system : JPNS   18 juin 2023
CANVAS, a sensory neuronopathy to look for in ataxia.
Revue neurologique   08 juin 2023
Phenotype and imaging features associated with APP duplications.
Alzheimer's research & therapy   11 mai 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
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
Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndrome.
Revue neurologique   24 septembre 2021
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Diagnostics (Basel, Switzerland)   28 août 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