Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
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Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeatAnalysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTDThe genetics and neuropathology of frontotemporal lobar degenerationChromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association studyWhole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisCharacterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological featuresExpanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSA hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaMechanisms of granulin deficiency: lessons from cellular and animal modelsCognitive and behavioral features of c9FTD/ALSPathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersModeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and AutophagyFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseMutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Progranulin: normal function and role in neurodegenerationNovel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisWhat causes amyotrophic lateral sclerosis?Temporoparietal hypometabolism in frontotemporal lobar degeneration and associated imaging diagnostic errors.The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationFamilial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease.Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.SNP haplotype mapping in a small ALS familyALS and FTLD: two faces of TDP-43 proteinopathy.Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar DegenerationRecent insights into the molecular genetics of dementiaFamilial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidaseGenetics and biology of Alzheimer's disease and frontotemporal lobar degenerationFrontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysisDe novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementiaFrontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?A systematic review of behavioural changes in motor neuron disease.The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disordersClinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family.An algorithm for genetic testing of frontotemporal lobar degenerationHereditary frontotemporal dementia caused by Tau gene mutations.
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P2860
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@en
Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@nl
type
label
Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@en
Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@nl
prefLabel
Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@en
Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@nl
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P2860
P50
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Familial amyotrophic lateral s ...... cus on chromosome 9p13.2-21.3.
@en
P2093
Benno Kusters
Bradley N Smith
Deborah Ruddy
Dirk Troost
H Jurgen Schelhaas
Vianney de Jong
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P304
P356
10.1093/BRAIN/AWL030
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P577
2006-02-22T00:00:00Z