71 citations
- Centre Hospitalier Universitaire de LilleFR4 papers
- InsermFR4 papers
- Centre de Recherche Jean Pierre AubertFR3 papers
- Université de LilleFR3 papers
- Assistance Publique – Hôpitaux de ParisFR1 paper
- Centre National de la Recherche ScientifiqueFR1 paper
- École Pratique des Hautes ÉtudesFR1 paper
- (Epi)génomique fonctionnelle métabolique et des dysfonctions dans le diabète de type 2 et des maladies associéesFR1 paper
- Hôpital Roger SalengroFR1 paper
- Institut de génétique et de biologie moléculaire et cellulaireFR1 paper
- Institut du CerveauFR1 paper
- Maladies Rares: Génétique et MétabolismeFR1 paper
4 papers
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Jérôme Delplanque, David Devos, Vincent Huin +18
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we r…
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin +10
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impair…
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
Sabiha Eddarkaoui, Mégane Homa, Anne Loyens +6
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar a…
Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases
Vincent Huin, Claire-Marie Dhaenens, Mégane Homa +3
Adenosine receptors are G-protein-coupled receptors involved in a wide range of physiological and pathological phenomena in most mammalian systems. All four receptors are widely ex…