Works by Mousson de Camaret, Bénédicte
Results: 5
A novel variation in the Twinkle linker region causing late-onset dementia.
- Published in:
- Neurogenetics, 2010, v. 11, n. 1, p. 21, doi. 10.1007/s10048-009-0202-4
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- Article
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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- Article
Alterations in voltage-sensing of the mitochondrial permeability transition pore in ANT1-deficient cells.
- Published in:
- Scientific Reports, 2016, p. 26700, doi. 10.1038/srep26700
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- Article
Full-length PGC-1α salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5096, doi. 10.1093/hmg/ddt359
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- Article
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2366, doi. 10.1002/ajmg.a.37188
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- Publication type:
- Article