Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants
Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies.
Cakar A et al.
Brain Communications, 2024
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Lopergolo D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1
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