Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Baptiste Ropert"'
Autor:
Emmanuelle C Genin, Sylvie Bannwarth, Baptiste Ropert, Françoise Lespinasse, Alessandra Mauri-Crouzet, Gaelle Augé, Konstantina Fragaki, Charlotte Cochaud, Erminia Donnarumma, Sandra Lacas-Gervais, Timothy Wai, Véronique Paquis-Flucklinger
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩
CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the Sto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e4acee00dfd65b95c24c9f606e3ce2
https://pubmed.ncbi.nlm.nih.gov/35656794
https://pubmed.ncbi.nlm.nih.gov/35656794
Autor:
Blandine Madji Hounoum, Françoise Lespinasse, Alessandra Mauri-Crouzet, Delphine Bohl, Fanny Mochel, Emmanuelle Génin, Jean-Ehrland Ricci, Aude Chiot, Véronique Paquis-Flucklinger, Charlotte Cochaud, Julien Neveu, Cynthia Lefebvre-Omar, Sandra Lacas-Gervais, Konstantina Fragaki, Stéphanie Bigou, Gaëlle Augé, Christian S. Lobsiger, Séverine Boillée, Sylvie Bannwarth, Baptiste Ropert
Publikováno v:
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2019, 138 (1), pp.123-145. ⟨10.1007/s00401-019-01988-z⟩
Acta Neuropathologica, Springer Verlag, 2019, 138 (1), pp.123-145. ⟨10.1007/s00401-019-01988-z⟩
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e531dfbddb5cd0ba97219486d7be7d83
https://hal.archives-ouvertes.fr/hal-03014387
https://hal.archives-ouvertes.fr/hal-03014387
Autor:
Emmanuelle C, Genin, Blandine, Madji Hounoum, Sylvie, Bannwarth, Konstantina, Fragaki, Sandra, Lacas-Gervais, Alessandra, Mauri-Crouzet, Françoise, Lespinasse, Julien, Neveu, Baptiste, Ropert, Gaelle, Augé, Charlotte, Cochaud, Cynthia, Lefebvre-Omar, Stéphanie, Bigou, Aude, Chiot, Fanny, Mochel, Séverine, Boillée, Christian S, Lobsiger, Delphine, Bohl, Jean-Ehrland, Ricci, Véronique, Paquis-Flucklinger
Publikováno v:
Acta neuropathologica. 138(1)
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de5c40166cc10019efb43e95243a0ce5
https://pubmed.ncbi.nlm.nih.gov/30874923
https://pubmed.ncbi.nlm.nih.gov/30874923