35 citations · 65 across the 3 of their papers we have counts for
3 papers
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations
Fábio Carneiro, Dario Saracino, Vincent Huin +17
Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic ca…
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…