Kolexia
Doummar Diane
Pédiatrie
Hôpital Armand Trousseau
Paris, France
150 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Épilepsie Dystonie Déficience intellectuelle Troubles de la motricité Encéphalopathies Troubles dystoniques Chorée Hémiplégie Malformations multiples

Industries

PTC Therapeutics
14 collaboration(s)
Dernière en 2023
{{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

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Journal of neurology   05 mars 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
Ultra-rare neurodevelopmental disorder with degenerative course and progressivemovement disorders associated with biallelic ZBTB11 variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Tremor and other hyperkinetic movements (New York, N.Y.)   20 décembre 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology   19 avril 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Science advances   10 mars 2023
Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype".
Movement disorders : official journal of the Movement Disorder Society   20 décembre 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
European journal of neurology   09 août 2022
Highlighting the Dystonic Phenotype Related to GNAO1.
Movement disorders : official journal of the Movement Disorder Society   20 juin 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome medicine   13 juin 2022