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A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.
Borghero G, Floris G, Cannas A, Marrosu MG, Murru MR, Costantino E, Parish LD, Pugliatti M, Ticca A, Traynor BJ, Calvo A, Cammarosano S, Moglia C, Cistaro A, Brunetti M, Restagno G, Chiò A. Borghero G, et al. Among authors: chio a. Neurobiol Aging. 2011 Dec;32(12):2327.e1-5. doi: 10.1016/j.neurobiolaging.2011.06.009. Epub 2011 Jul 30. Neurobiol Aging. 2011. PMID: 21803454 Free PMC article.
We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of amyotrophic lateral sclerosis (ALS) cases on the Mediterranean island of Sardinia (Chio et al., 2011). In that report, we identified …
We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of …
The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.
Restagno G, Gomez A, Lombardo F, Cocco E, Calvo A, Ghiglione P, Mutani R, Chiò A. Restagno G, et al. Among authors: chio a. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Mar;6(1):45-9. doi: 10.1080/14660820410021276. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16036425
Caregiver time use in ALS.
Chiò A, Gauthier A, Vignola A, Calvo A, Ghiglione P, Cavallo E, Terreni AA, Mutani R. Chiò A, et al. Neurology. 2006 Sep 12;67(5):902-4. doi: 10.1212/01.wnl.0000233840.41688.df. Neurology. 2006. PMID: 16966565
The epidemiology of ALS and the role of population-based registries.
Beghi E, Logroscino G, Chiò A, Hardiman O, Mitchell D, Swingler R, Traynor BJ; EURALS Consortium. Beghi E, et al. Among authors: chio a. Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1150-7. doi: 10.1016/j.bbadis.2006.09.008. Epub 2006 Sep 29. Biochim Biophys Acta. 2006. PMID: 17071060 Free article. Review. No abstract available.
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.
Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ. Momeni P, et al. Among authors: chio a. BMC Neurol. 2006 Dec 13;6:44. doi: 10.1186/1471-2377-6-44. BMC Neurol. 2006. PMID: 17166276 Free PMC article.
514 results