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Title
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TDP-43 A315T mutation in familial motor neuron disease
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Author
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Abstract
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| To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA-binding protein 43 (TDP-43) proteinopathies to investigate TDP-43 as a candidate gene in familial cases of motor neuron disease. Sequencing of the TDP-43 gene led to the identification of a novel missense mutation, Ala-315-Thr, which segregates with all affected members of an autosomal dominant motor neuron disease family. The mutation was not found in 1,505 healthy control subjects. The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration. |
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Language
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English
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Source (journal)
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Annals of neurology. - Boston, Mass.
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Publication
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Boston, Mass.
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2008
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ISSN
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0364-5134
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DOI
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10.1002/ANA.21344
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Volume/pages
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63
:4
(2008)
, p. 535-538
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ISI
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000255454400017
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Full text (Publisher's DOI)
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