97 citations · 189 across the 3 of their papers we have counts for
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q-bio.BM2020★ 97 cited
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…
q-bio.BM2020★ 8 cited
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…