Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

doi:10.1136/jnnp-2019-321790

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Article

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2020

McCann Emily P, Fifita Jennifer A, Grima Natalie, Galper Jasmin, Mehta Prachi, Freckleton Sarah E, Zhang Katharine Y, Henden Lyndal, Hogan Alison L, Chan Moi Fat Sandrine, Wu Sharlynn Sl, Jagaraj Cyril J, Berning Britt A, Williams Kelly Louise, Twine Natalie A, Bauer Denis, Piguet Olivier, Hodges John, Kwok John B J, Halliday Glenda M, Kiernan Matthew C, Atkin Julie, Rowe Dominic B, Nicholson Garth A, Walker Adam K, Blair Ian P, Yang Shu

Abstract excerpt

OBJECTIVE: Since the first report of CHCHD10 gene mutations in amyotrophiclateral sclerosis (ALS)/frontotemporaldementia (FTD) patients, genetic variation in CHCHD10 has been inconsistently linked to disease. A pathological assessment of the CHCHD10 protein in patient neuronal tissue also remains to be reported. We sought to characterise the genetic and pathological contribution of CHCHD10 to ALS/FTD in...

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PMID: 31690696
DOI: 10.1136/jnnp-2019-321790

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