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Works matching AU Mousson de Camaret, Bénédicte

Results: 5

1

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

By:

Echaniz-Laguna, Andoni;
Chanson, Jean-Baptiste;
Wilhelm, Jean-Marie;
Sellal, François;
Mayençon, Martine;
Mohr, Michel;
Tranchant, Christine;
de Camaret, Bénédicte Mousson

Publication type:

Article

2

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

By:

Rona-Voros, Krisztina;
Eschbach, Judith;
Vernay, Aurélia;
Wiesner, Diana;
Schwalenstocker, Birgit;
Geniquet, Pauline;
Mousson De Camaret, Bénédicte;
Echaniz-Laguna, Andoni;
Loeffler, Jean-Philippe;
Ludolph, Albert C.;
Weydt, Patrick;
Dupuis, Luc

Publication type:

Article

3

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

By:

Charif, Majida;
Titah, Salah Mohamed Cherif;
Roubertie, Agathe;
Desquiret‐Dumas, Valérie;
Gueguen, Naig;
Meunier, Isabelle;
Leid, Jean;
Massal, Frédéric;
Zanlonghi, Xavier;
Mercier, Jacques;
Raynaud de Mauverger, Eric;
Procaccio, Vincent;
de Camaret, Bénédicte Mousson;
Lenaers, Guy;
Hamel, Christian P.

Publication type:

Article

4

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

By:

Doczi, Judit;
Torocsik, Beata;
Echaniz-Laguna, Andoni;
Mousson de Camaret, Bénédicte;
Starkov, Anatoly;
Starkova, Natalia;
Gál, Aniko;
Molnár, Mária J;
Kawamata, Hibiki;
Manfredi, Giovanni;
Adam-Vizi, Vera;
Chinopoulos, Christos

Publication type:

Article

5

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

By:

Rouzier, Cécile;
Chaussenot, Annabelle;
Serre, Valérie;
Fragaki, Konstantina;
Bannwarth, Sylvie;
Ait-El-Mkadem, Samira;
Attarian, Shahram;
Kaphan, Elsa;
Cano, Aline;
Delmont, Emilien;
Sacconi, Sabrina;
de Camaret, Bénédicte Mousson;
Rio, Marlène;
Lebre, Anne-Sophie;
Jardel, Claude;
Deschamps, Romain;
Richelme, Christian;
Pouget, Jean;
Chabrol, Brigitte;
Paquis-Flucklinger, Véronique

Publication type:

Article