Kolexia
Nicolas Gael Neurologie
Nicolas Gael
Neurologie
Hôpital Charles Nicolle
Rouen, France
244 Activités
469 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladie d'Alzheimer Calcinose Prédisposition génétique à une maladie Encéphalopathies Démence Affections des ganglions de la base Maladies neurodégénératives Angiopathie amyloïde cérébrale Déficience intellectuelle

Collaborateurs

Voir plus
Campion Dominique
Campion Dominique
Centre Hospitalier du Rouvray, Sotteville-lès-Rouen, France
Wallon David
Wallon David
Hôpital Charles Nicolle, Rouen, France
Hannequin Didier
Hannequin Didier
Hôpital Charles Nicolle, Rouen, France
Frebourg Thierry
Frebourg Thierry
Hôpital Charles Nicolle, Rouen, France

Industries

Voir plus
{{person.topindus1.name}}
{{person.topindus1.tot}} collaboration(s)
Dernière en {{person.topindus1.last}}
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Scientific reports   04 mars 2024
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
European journal of human genetics : EJHG   04 mars 2024
Lessons from genetic studies in Alzheimer disease.
Revue neurologique   29 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genetics in medicine : official journal of the American College of Medical Genetics   24 janvier 2024
Recent advances in Alzheimer disease genetics.
Current opinion in neurology   22 janvier 2024
One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer's Disease.
Journal of molecular neuroscience : MN   05 janvier 2024
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Variants leading to impaired N-terminal acetylation capacity: a new cause of autosomal recessive primary familial brain calcifications
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024