Related references
Note: Only part of the references are listed.Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val
P. Pasanen et al.
ACTA NEUROLOGICA SCANDINAVICA (2016)
High prevalence of CHCHD10 mutation in patients with frontotemporal dementia from China
Bin Jiao et al.
BRAIN (2016)
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant
Nicolai Marroquin et al.
BRAIN (2016)
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
Emmanuelle C. Genin et al.
EMBO MOLECULAR MEDICINE (2016)
The 'Omics' of Amyotrophic Lateral Sclerosis
Diana Caballero-Hernandez et al.
TRENDS IN MOLECULAR MEDICINE (2016)
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Carol Dobson-Stone et al.
BRAIN (2015)
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Oriol Dols-Icardo et al.
BRAIN (2015)
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
Delia Kurzwelly et al.
BRAIN (2015)
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
Dario Ronchi et al.
BRAIN (2015)
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
Sylvie Bannwarth et al.
BRAIN (2015)
Mutation analysis of CHCHD10 in different neurodegenerative diseases
Ming Zhang et al.
BRAIN (2015)
NLRP3 Inflammasome Is Expressed by Astrocytes in the SOD1 Mouse Model of ALS and in Human Sporadic ALS Patients
Sonja Johann et al.
GLIA (2015)
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Axel Freischmidt et al.
NATURE NEUROSCIENCE (2015)
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
Chun HaoWong et al.
NEUROBIOLOGY OF AGING (2015)
Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis
Mauro Cozzolino et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2015)
Late Onset Spinal Motor Neuronopathy Is Caused by Mutation in CHCHD10
Sini Penttila et al.
ANNALS OF NEUROLOGY (2015)
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
Senda Ajroud-Driss et al.
NEUROGENETICS (2015)
Screening for cognitive impairment in a Chinese ALS population
Qianqian Wei et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2015)
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
Kathrin Mueller et al.
BRAIN (2014)
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
Janel O. Johnson et al.
BRAIN (2014)
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Sylvie Bannwarth et al.
BRAIN (2014)
State of play in amyotrophic lateral sclerosis genetics
Alan E. Renton et al.
NATURE NEUROSCIENCE (2014)
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
Annabelle Chaussenot et al.
NEUROBIOLOGY OF AGING (2014)
Protein aggregation in amyotrophic lateral sclerosis
Anna M. Blokhuis et al.
ACTA NEUROPATHOLOGICA (2013)
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kevin P. Kenna et al.
JOURNAL OF MEDICAL GENETICS (2013)
Mitochondria and ALS: Implications from novel genes and pathways
Mauro Cozzolino et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2013)
PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis
YongPing Chen et al.
NEUROBIOLOGY OF AGING (2013)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
ChChd3, an Inner Mitochondrial Membrane Protein, Is Essential for Maintaining Crista Integrity and Mitochondrial Function
Manjula Darshi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Peter M. Andersen et al.
NATURE REVIEWS NEUROLOGY (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Mitochondria in Amyotrophic Lateral Sclerosis: A Trigger and a Target
Luc Dupuis et al.
NEURODEGENERATIVE DISEASES (2004)
El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
BR Brooks et al.
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)
Share Paper
