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
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
36133075 (PubMed )
Supplement: Table_1.XLSX › AD_098_N
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
Chiang HH et al.
European Journal of Human Genetics : Ejhg, 2013
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.
Chiang HH et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2008
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Le Ber I et al.
Human Mutation, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J et al.
Human Mutation, 2007
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