Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. - Test2 - elhamkhani - TriplyDB

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

http://www.wikidata.org/entity/Q36764293

about

Parkinsonian syndrome in familial frontotemporal dementia Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.C9ORF72 expansion in a family with bipolar disorder A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?C9ORF72 mutations in neurodegenerative diseases.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.Intrafamilial Phenotypic Variability in the Gene Expansion: 2 Case Studies

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P2860

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

http://www.wikidata.org/entity/Q36764293

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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name

Characterization of a family w ...... C repeat expansion in C9ORF72.

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Characterization of a family w ...... C repeat expansion in C9ORF72.

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type

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Characterization of a family w ...... C repeat expansion in C9ORF72.

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Characterization of a family w ...... C repeat expansion in C9ORF72.

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Characterization of a family w ...... C repeat expansion in C9ORF72.

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Characterization of a family w ...... C repeat expansion in C9ORF72.

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ARCHNEUROL.2012.772

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Anahita Adeli

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Bradley F Boeve

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Jennifer Whitwell

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Julie A Fields

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Mariely Dejesus-Hernandez

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Prashanthi Vemuri

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Rodolfo Savica

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Val Lowe

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P2860

Classification of primary progressive aphasia and its variants

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

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

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

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1164-1169

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10.1001/ARCHNEUROL.2012.772

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Rosa Rademakers

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2012-09-01T00:00:00Z

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225065147

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amyotrophic lateral sclerosis

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