(Q51971909)

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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

scientific article published in October 2007

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Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/17826340

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. (English)

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Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/17826340

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Haploinsufficiency

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Stuart Pickering-Brown

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William S Brooks

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Peter R Schofield

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Kevin Boylan

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Matt Baker

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Dan H Geschwind

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http://europepmc.org/abstract/MED/17826340

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Jennifer Gass

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Jennifer Adamson

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Salvatore Spina

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Nancy Johnson

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Ellen Steinbart

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Chang-En Yu

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Christopher M Clark

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Andrew Kertesz

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David Mann

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19 April 2018

http://europepmc.org/abstract/MED/17826340

Ian R Mackenzie

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http://europepmc.org/abstract/MED/17826340

Thomas Bird

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http://europepmc.org/abstract/MED/17826340

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http://europepmc.org/abstract/MED/17826340

Mike Hutton

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http://europepmc.org/abstract/MED/17826340

publication date

1 October 2007

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19 April 2018

http://europepmc.org/abstract/MED/17826340

Lancet Neurology

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857-868

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19 April 2018

http://europepmc.org/abstract/MED/17826340

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

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Frontotemporal dementia.

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The genetic and pathological classification of familial frontotemporal dementia

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

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Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms

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Tau is a candidate gene for chromosome 17 frontotemporal dementia

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

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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

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Characteristics of frontotemporal dementia patients with a Progranulin mutation

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Mutations in progranulin explain atypical phenotypes with variants in MAPT.

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Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families

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Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

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HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

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Identifiers

10.1016/S1474-4422(07)70221-1

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/17826340

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/17826340

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