Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Mauri-Crouzet A"'
Autor:
Emmanuelle C. Genin, Pauline Pozzo di Borgo, Thomas Lorivel, Sandrine Hugues, Mélissa Farinelli, Alessandra Mauri-Crouzet, Françoise Lespinasse, Lucas Godin, Véronique Paquis-Flucklinger, Agnès Petit-Paitel
Publikováno v:
Neurobiology of Disease, Vol 195, Iss , Pp 106498- (2024)
CHCHD10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We generated a knock-in mouse model bearing the p.Ser59Leu (S
Externí odkaz:
https://doaj.org/article/491f02d8fe73499288ec8e514a967d1d
Autor:
Genin, Emmanuelle C., di Borgo, Pauline Pozzo, Lorivel, Thomas, Hugues, Sandrine, Farinelli, Mélissa, Mauri-Crouzet, Alessandra, Lespinasse, Françoise, Godin, Lucas, Paquis-Flucklinger, Véronique, Petit-Paitel, Agnès
Publikováno v:
In Neurobiology of Disease 1 June 2024 195
Autor:
Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Françoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Emil, Mauri-Crouzet, Alessandra, Tyynismaa, Henna, Vihola, Anna, Augé, Gaelle, Cochaud, Charlotte, Sesaki, Hiromi, Ricci, Jean-Ehrland, Udd, Bjarne, Vives-Bauza, Cristofol, Paquis-Flucklinger, Véronique
Publikováno v:
In Neurobiology of Disease November 2018 119:159-171
Autor:
Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 159-171 (2018)
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (
Externí odkaz:
https://doaj.org/article/4dd012f21baf4cd2b4f522f52e36c6f3
Akademický článek
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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:
Paquis-Flucklinger, Gaëlle Augé, Alessandra Mauri-Crouzet, Charlotte Cochaud, Ropert B, Sylvie Bannwarth, Françoise Lespinasse, Konstantina Fragaki, Sandra Lacas-Gervais, Emmanuelle Génin
CHCHD10 is an ALS/FTD gene, also involved in a large clinical spectrum, that encodes a protein whose precise function within mitochondria is unclear. Here we show that CHCHD10 interacts with the Stomatin-Like Protein 2 (SLP2) to control the stability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::118873910de0ed24dcfcf1aaf065ecf9
https://doi.org/10.1101/2021.05.31.446377
https://doi.org/10.1101/2021.05.31.446377
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
Autor:
Emil Ylikallio, Mari Auranen, Charlotte Cochaud, Jean-Ehrland Ricci, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Bjarne Udd, Véronique Paquis-Flucklinger, Cristofol Vives-Bauza, Bernardo Ortega-Vila, Gaëlle Augé, Emmanuelle Génin, Manu Jokela, Konstantina Fragaki, Françoise Lespinasse, Sandra Lacas-Gervais, Hiromi Sesaki, Sylvie Bannwarth, Kie Itoh, Elodie Villa
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2018, 119, pp.159-171. ⟨10.1016/j.nbd.2018.07.027⟩
Neurobiology of Disease, Vol 119, Iss, Pp 159-171 (2018)
Neurobiology of Disease, Elsevier, 2018, 119, pp.159-171. ⟨10.1016/j.nbd.2018.07.027⟩
Neurobiology of Disease, Vol 119, Iss, Pp 159-171 (2018)
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late onset spinal motor neuronopathy (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79452abee4df190a3c79f14893b26acd
https://hal.archives-ouvertes.fr/hal-03014491
https://hal.archives-ouvertes.fr/hal-03014491