71 citations · 126 across the 4 of their papers we have counts for
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…
The MAPT gene is differentially methylated in the progressive supranuclear palsy brain
Vincent Huin, Vincent Deramecourt, Dominique Caparros-Lefebvre +10
Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease causing parkinsonian symptoms. Altered DNA methylation of the microtubule-associated protein ta…
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…