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「"Cruts M "[Author]」の検索結果

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Data Mining: Applying the AD&FTD Mutation Database to Progranulin.

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

NanoPack: visualizing and processing long read sequencing data.

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.

Relationship between C9orf72 repeat size and clinical phenotype.

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.

The Genetics of C9orf72 Expansions.

TBK1 Mutation Spectrum in an Extended European Patient Cohort With Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.

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