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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 1, p. 58, doi. 10.15252/emmm.201505496
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- Publication type:
- Article
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
- Published in:
- 2022
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- Publication type:
- journal article
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
- Published in:
- 2016
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- Publication type:
- Letter
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
- Published in:
- 2015
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- Publication type:
- Letter
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
- Published in:
- 2015
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- Publication type:
- commentary
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
- Published in:
- 2015
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- Publication type:
- journal article
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
- Published in:
- 2015
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- Publication type:
- journal article
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e310, doi. 10.1093/brain/awu228
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- Publication type:
- Article
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e312, doi. 10.1093/brain/awu267
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- Publication type:
- Article
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e314, doi. 10.1093/brain/awu300
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- Publication type:
- Article
A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10891, doi. 10.3390/ijms221910891
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- Publication type:
- Article
Author Correction: TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro.
- Published in:
- 2021
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- Publication type:
- Correction Notice
TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22145-9
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- Publication type:
- Article
Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
- Published in:
- Annales de Biologie Clinique, 2021, v. 79, n. 1, p. 28, doi. 10.1684/abc.2021.1621
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- Publication type:
- Article
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0568-y
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- Publication type:
- Article
ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data.
- Published in:
- Bioinformatics, 2022, v. 38, n. 20, p. 4754, doi. 10.1093/bioinformatics/btac603
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- Publication type:
- Article
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
- Published in:
- 2017
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- Publication type:
- Case Study
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
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- Publication type:
- Article
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- 2007
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- Publication type:
- Correction Notice
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 917, doi. 10.1038/sj.ejhg.5201627
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- Publication type:
- Article
Characterization of TRBP1 and TRBP2.
- Published in:
- Journal of Biomedical Science, 2000, v. 7, n. 6, p. 494, doi. 10.1007/BF02253365
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- Publication type:
- Article
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2329, doi. 10.1093/brain/awu138
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- Publication type:
- Article
Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e220, doi. 10.1093/brain/aws052
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- Publication type:
- Article
Reply: MFN2, a new gene responsible for mitochondrial DNA depletion.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e224, doi. 10.1093/brain/aws112
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- Publication type:
- Article
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 23, doi. 10.1093/brain/awr323
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- Publication type:
- Article
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 743, doi. 10.3233/JND-210655
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- Publication type:
- Article
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062
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- Publication type:
- Article
Detection of Low Levels of the Mitochondrial tRNA<sup>Leu(UUR)</sup> 3243A>G Mutation in Blood Derived from Patients with Diabetes.
- Published in:
- Molecular Diagnosis & Therapy, 2006, v. 10, n. 6, p. 381, doi. 10.1007/BF03256215
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- Publication type:
- Article
CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.
- Published in:
- 2015
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- Publication type:
- commentary
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 3, p. 501, doi. 10.1002/ana.22160
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- Publication type:
- Article
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca<sup>2+</sup> homeostasis and ER-mitochondria interactions.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 9, p. 1599, doi. 10.1093/hmg/ddx060
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- Publication type:
- Article
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10<sup>S59L/+</sup> mouse.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 1, p. 123, doi. 10.1007/s00401-019-01988-z
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- Publication type:
- Article
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1394, doi. 10.1002/humu.24037
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- Publication type:
- Article
Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
- Published in:
- Human Mutation, 2005, v. 25, n. 6, p. 575, doi. 10.1002/humu.20177
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- Publication type:
- Article
Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene.
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 99, doi. 10.1002/humu.9300
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- Publication type:
- Article
Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance.
- Published in:
- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0203101
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- Publication type:
- Article
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.
- Published in:
- 2011
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- Publication type:
- journal article
A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness.
- Published in:
- Diabetes Care, 2011, v. 34, n. 12, p. 2591, doi. 10.2337/dc11-1012
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- Publication type:
- Article