Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. - Wikidata - awgldk - TriplyDB

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

http://www.wikidata.org/entity/Q33364603

about

The genetics and neuropathology of frontotemporal lobar degeneration Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Cognitive and behavioral features of c9FTD/ALS Frontotemporal dementia: a bridge between dementia and neuromuscular disease Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components analysis Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43.FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family.C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients TDP-43 variants of frontotemporal lobar degeneration.A quantitative study of the neuropathology of 32 sporadic and familial cases of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP).TMEM106B a novel risk factor for frontotemporal lobar degeneration Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.Laminar distribution of the pathological changes in sporadic frontotemporal lobar degeneration with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy: a quantitative study using polynomial curve fitting.Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.Advances in understanding the molecular basis of frontotemporal dementia.A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism.Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.Investigation of c9orf72 in 4 neurodegenerative disorders.Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Treatment implications of C9ORF72.

P2860

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P2860

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

http://www.wikidata.org/entity/Q33364603

description

2008 nî lūn-bûn

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2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2008 թվականի օգոստոսին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

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Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

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type

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Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

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Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

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Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

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Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

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Pedigree with frontotemporal l ...... netic linkage to chromosome 9.

@en

P2093

Agnes A Luty

http://www.w3.org/2001/XMLSchema#string

Carol Dobson-Stone

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Clement T Loy

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Elizabeth M Thompson

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Garth A Nicholson

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Jane Hecker

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John B J Kwok

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Peter Blumbergs

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Peter K Panegyres

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P2860

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

A high-resolution recombination map of the human genome

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

The prevalence of frontotemporal dementia.

P2888

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32

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scholarly article

P356

10.1186/1471-2377-8-32

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P478

8

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P50

Peter R Schofield

William S Brooks

Glenda Halliday

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2008-08-29T00:00:00Z

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23221444

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1042380309

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18755042

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2553097

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