Clinical/Scientific Notes: ARHGEF28 P.LYS280METFS40TER in an amyotrophic lateral sclerosis family with a C9ORF72 expansion

S.M.K. Farhan; T.F. Gendron; L. Petrucelli; R.A. Hegele; M.J. Strong

doi:10.1212/NXG.0000000000000190

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Clinical/Scientific Notes: ARHGEF28 P.LYS280METFS40TER in an amyotrophic lateral sclerosis family with a C9ORF72 expansion

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Clinical/Scientific Notes: ARHGEF28 P.LYS280METFS40TER in an amyotrophic lateral sclerosis family with a C9ORF72 expansion

S.M.K. Farhan, T.F. Gendron, L. Petrucelli, R.A. Hegele and M.J. Strong

Neurology: Genetics, Vol.3(5), e190

2017

DOI: https://doi.org/10.1212/NXG.0000000000000190

PMID: 28971145

Abstract

repetitive DNA

Rho guanine nucleotide exchange factor

amyotrophic lateral sclerosis

ARHGEF28 gene

Article

autopsy

bulbar paralysis

case report

clinical article

clinical evaluation

cognitive defect

disease course

female

frontotemporal dementia

gene

genetic screening

genotype

human

immunohistochemistry

limb weakness

muscle atrophy

muscle weakness

nerve degeneration

neuromuscular monitoring

next generation sequencing

nucleic acid structure

pathophysiology

priority journal

trinucleotide repeat

whole exome sequencing

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Title: Clinical/Scientific Notes: ARHGEF28 P.LYS280METFS40TER in an amyotrophic lateral sclerosis family with a C9ORF72 expansion
Creators: S.M.K. Farhan - Mayo Clinic in Florida
T.F. Gendron - Mayo Clinic in Florida
L. Petrucelli - Jacksonville College
R.A. Hegele - Jacksonville College
M.J. Strong - Mayo Clinic in Florida
Publication Details: Neurology: Genetics, Vol.3(5), e190
Publisher: Lippincott Williams and Wilkins; PHILADELPHIA
Number of pages: 3
Grant note: Canadian Institutes of Health Research (CIHR)ALS CanadaMcFeat Family FundCIHR Fredrick Banting and Charles Best Canada Graduate Scholarship
This research was supported by the Canadian Institutes of Health Research (CIHR), ALS Canada, and the McFeat Family Fund. S.M.K. Farhan was supported by the CIHR Fredrick Banting and Charles Best Canada Graduate Scholarship.
Comment: Export Date: 27 February 2026; Cited By: 7
Academic Unit: Level 02 - Executives; Executives; UMMG Department of Neurology
Resource Type: Journal article
PMID: 28971145
Record Identifier: 991032996201702976