97 citations · 189 across the 3 of their papers we have counts for
3 papers
Motor neuron pathology in CANVAS due to RFC1 expansions
Vincent Huin, Giulia Coarelli, Clément Guemy +22
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical…
Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms
Vincent Huin, Mathieu Barbier, Armand Bottani +18
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar atax…
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…