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Authors whose works are in public domain in at least one jurisdiction

List of works by NiCole A Finch

1-16 of 16 results

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

scientific article

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

scientific article published on 21 January 2009

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

scientific article published on 05 September 2013

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

scientific article published on 6 May 2015

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

scientific article

Progranulin protein levels are differently regulated in plasma and CSF.

scientific article

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

scientific article published on 15 May 2017

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain

scientific article published on 26 April 2016

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

scientific article

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

scientific article published on 08 October 2019

Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain

scientific article published on 23 May 2016

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

scholarly article by Monica Y Sanchez-Contreras published in July 2018

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

scientific article published on 11 December 2017