Late onset spinal motor neuronopathy is caused by mutation inCHCHD10-Reference-Cited by-同舟云学术

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Late onset spinal motor neuronopathy is caused by mutation inCHCHD10

Published:2014-12-12 Issue:1 Volume:77 Page:163-172
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Penttilä Sini¹,Jokela Manu²,Bouquin Heidi¹,Saukkonen Anna Maija³,Toivanen Jari³,Udd Bjarne¹⁴⁵

Affiliation:

1. Neuromuscular Research Center; Tampere University and University Hospital; Tampere

2. Division of Clinical Neurosciences; Turku University Hospital and University of Turku; Turku

3. Department of Neurology; Central Hospital of Northern Karelia; Joensuu

4. Folkhälsan Institute of Genetics and Department of Medical Genetics; Haartman Institute; University of Helsinki; Helsinki

5. Department of Neurology; Vasa Central Hospital; Vasa Finland

Funder

Finska LÃ¤karesÃ¤llskapet

Jane and Aatos Erkko Foundation

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24319/fullpdf

Reference28 articles.

1. Late-onset lower motor neuronopathy: a new autosomal dominant disorder;Jokela;Neurology,2011

2. Late-onset spinal motor neuronopathy-a common form of dominant SMA;Penttilä;Neuromuscul Disord,2014

3. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2;Penttilä;Eur J Hum Genet,2012

4. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement;Bannwarth;Brain,2014

5. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients;Chaussenot;Neurobiol Aging,2014

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1. CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia;Neurobiology of Disease;2024-06

2. High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice;EMBO Molecular Medicine;2024-05-09

3. Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis;Genes;2023-10-24

4. CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature;Human Molecular Genetics;2023-10-10

5. Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S;Biomolecules;2023-07-19

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