Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
K Müller, PM Andersen, A Hübers, N Marroquin… - Brain, 2014 - academic.oup.com
Sir, Recently, Bannwarth et al.(2014) reported a family with a mitochondrial DNA instability
disorder that variably presented with cerebellar ataxia and myopathy but also with an ALS …
disorder that variably presented with cerebellar ataxia and myopathy but also with an ALS …
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
Sir, Emerging data provide evidence for CHCHD10 as a new candidate gene in familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)(Bannwarth et al …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)(Bannwarth et al …
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Project MinE ALS Sequencing Consortium… - Annals of …, 2018 - Wiley Online Library
Objective After the initial report of a CHCHD10 mutation in mitochondrial disease with
features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been …
features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been …
[HTML][HTML] Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
EC Genin, B Madji Hounoum, S Bannwarth… - Acta …, 2019 - Springer
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger
motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial …
motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial …
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
Sir, A recent study by Bannwarth and colleagues has shown that variation in the CHCHD10
gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …
gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
C Lehmer, MH Schludi, L Ransom… - EMBO molecular …, 2018 - embopress.org
CHCHD10 mutations are linked to amyotrophic lateral sclerosis, but their mode of action is
unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel …
unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel …
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
D Ronchi, G Riboldi, R Del Bo, N Ticozzi, M Scarlato… - Brain, 2015 - academic.oup.com
Sir, We read with interest the paper recently published in Brain (Bannwarth et al., 2014)
reporting a mutation in CHCHD10 (c. 176C> T, p. Ser59Leu) in familial amyotrophic lateral …
reporting a mutation in CHCHD10 (c. 176C> T, p. Ser59Leu) in familial amyotrophic lateral …
[HTML][HTML] Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis
QQ Zhou, YP Chen, QQ Wei, B Cao, Y Wu, B Zhao… - Molecular …, 2017 - Springer
Mutations in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene
(CHCHD10), involved in mitochondrial function, have recently been reported as a causative …
(CHCHD10), involved in mitochondrial function, have recently been reported as a causative …
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein …
IR Straub, W Weraarpachai… - Human Molecular …, 2021 - academic.oup.com
Mutations in CHCHD10, coding for a mitochondrial intermembrane space protein, are a rare
cause of autosomal dominant amyotrophic lateral sclerosis. Mutation-specific toxic gain of …
cause of autosomal dominant amyotrophic lateral sclerosis. Mutation-specific toxic gain of …
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
S Bannwarth, S Ait-El-Mkadem, A Chaussenot… - Brain, 2014 - academic.oup.com
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among
which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are …
which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are …