71 citations · 167 across the 6 of their papers we have counts for
4 papers · 1 filter
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 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…
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…