A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD-Reference-Cited by-同舟云学术

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

Published:2011-12 Issue:12 Volume:32 Page:2327.e1-2327.e5
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Borghero Giuseppe,Floris Gianluca,Cannas Antonino,Marrosu Maria G.,Murru Maria R.,Costantino Emanuela,Parish Leslie D.,Pugliatti Maura,Ticca Anna,Traynor Bryan J.,Calvo Andrea,Cammarosano Stefania,Moglia Cristina,Cistaro Angelina,Brunetti Maura,Restagno Gabriella,Chiò Adriano

Funder

National Institute on Aging

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience

Reference10 articles.

1. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease;Borroni;Hum. Mutat,2009

2. A large proportion of ALS cases in Sardinia are due to a single founder mutation of the TARDBP gene;Chiò;Arch. Neurol,2011

3. Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with pAla382Thr TARDBP mutations;Chiò;Arch. Neurol,2010

4. Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis;Geser;Arch. Neurol,2008

5. Clinical and pathological continuum of multisystem TDP-43 proteinopathies;Geser;Arch. Neurol,2009

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1. TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43;Neurobiology of Disease;2024-04

2. Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons;iScience;2024-03

3. TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43;2023-12-27

4. Disease survival and progression in TARDBP ALS patients from Sardinia, Italy;Journal of Neurology;2023-10-19

5. Frontotemporal Dementia, Where Do We Stand? A Narrative Review;International Journal of Molecular Sciences;2023-07-21