C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex

scientific article published on June 2013

C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1001/JAMANEUROL.2013.1817
P932PMC publication ID3771869
P698PubMed publication ID23588498

P50authorRalph M. GarrutoQ61937757
Douglas R. GalaskoQ67228424
Cyrus P ZabetianQ30362040
Ignacio F MataQ40102964
P2093author name stringGerard D Schellenberg
Beth A Dombroski
Ignacio F Mata
Kiyomitsu Oyanagi
Ulla-Katrina Craig
P2860cites workParkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features.Q51298993
Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene reveals the beta-amyloid sequence to be normal in cases of the parkinson dementia complex of Guam.Q53318895
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.Q53581394
Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000Q57982314
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSQ24633692
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDQ24634583
Epidemiologic investigations of amyotrophic lateral sclerosis. I. Preliminary report on geographic distribution, with special reference to the Mariana Islands, including clinical and pathologic observationsQ28210637
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosisQ29619074
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolatesQ30490128
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationQ30495415
C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonismQ30529336
LRRK2 mutations and risk variants in Japanese patients with Parkinson's diseaseQ33682480
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, JapanQ34507779
TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of GuamQ34519472
Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteinsQ34722021
Prevalence of dementia in Chamorros on Guam: relationship to age, gender, education, and APOE.Q44575887
Cycad exposure and risk of dementia, MCI, and PDC in the Chamorro population of Guam.Q48161371
Biochemical and ultrastructural study of neurofibrillary tangles in amyotrophic lateral sclerosis/parkinsonism-dementia complex in the Kii peninsula of JapanQ48233787
Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysisQ48910471
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.Q50941775
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectParkinson's diseaseQ11085
amyotrophic lateral sclerosisQ206901
dementiaQ83030
GuamQ16635
P304page(s)742-745
P577publication date2013-06-01
P1433published inJAMA NeurologyQ276813
P1476titleC9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex
P478volume70

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cites work (P2860)
Q41675162'Hummingbird' Sign in a Patient with Guam Parkinsonism-Dementia Complex
Q38128241C9ORF72 mutations in neurodegenerative diseases
Q55068890Defining neurodegeneration on Guam by targeted genomic sequencing.
Q38626056Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.
Q46982233From the genetic code to neuromics.
Q52710774Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.
Q38739503Parkinsonism, movement disorders and genetics in frontotemporal dementia
Q40726584Reduced levels of alpha-1-antitrypsin in cerebrospinal fluid of amyotrophic lateral sclerosis patients: a novel approach for a potential treatment
Q37027136The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis
Q35501931The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

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