Variant: rs730880030 

    present in Gene: CHCHD10;LOC107985577
    present in Chromosome: 22
    Position on Chromosome: 23767591
    Alleles of this Variant: C/A

rs730880030 in CHCHD10;LOC107985577 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 PMID 25576308 2015 CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

PMID 25833818 2015 Mutation analysis of CHCHD10 in different neurodegenerative diseases.

PMID 28585542 2017 Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.

PMID 25681414 2015 A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

PMID 25261972 2014 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

PMID 26152333 2015 Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

PMID 29315381 2018 CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

PMID 29789341 2018 A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

PMID 29121267 2018 Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

PMID 25113787 2014 Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

rs730880030 in CHCHD10;LOC107985577 gene and MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT PMID 25833818 2015 Mutation analysis of CHCHD10 in different neurodegenerative diseases.

PMID 28585542 2017 Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.

PMID 25681414 2015 A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

PMID 29121267 2018 Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

PMID 25113787 2014 Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

PMID 25261972 2014 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

PMID 29789341 2018 A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

PMID 29315381 2018 CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

PMID 26152333 2015 Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

rs730880030 in CHCHD10;LOC107985577 gene and SPINAL MUSCULAR ATROPHY, JOKELA TYPE PMID 25113787 2014 Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

PMID 26152333 2015 Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

PMID 29315381 2018 CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

PMID 29789341 2018 A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

PMID 25261972 2014 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

PMID 28585542 2017 Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.

PMID 25681414 2015 A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

PMID 29121267 2018 Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

PMID 25833818 2015 Mutation analysis of CHCHD10 in different neurodegenerative diseases.