Zobrazeno 1 - 10
of 653
pro vyhledávání: '"Procaccio Vincent"'
Autor:
Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle
Publikováno v:
In Genetics in Medicine May 2024 26(5)
Autor:
Lenaers Guy, Hamel Christian, Delettre Cécile, Amati-Bonneau Patrizia, Procaccio Vincent, Bonneau Dominique, Reynier Pascal, Milea Dan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 46 (2012)
Abstract Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The dise
Externí odkaz:
https://doaj.org/article/f715ce0768c04e0380abdf85e97e0dbb
Autor:
Cassereau Julien, Chevrollier Arnaud, Bonneau Dominique, Verny Christophe, Procaccio Vincent, Reynier Pascal, Ferré Marc
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 87 (2011)
Abstract Background The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondr
Externí odkaz:
https://doaj.org/article/12c277d006084025bd0cd84e10d931d6
Autor:
Angebault Claire, Gueguen Naïg, Desquiret-Dumas Valérie, Chevrollier Arnaud, Guillet Virginie, Verny Christophe, Cassereau Julien, Ferre Marc, Milea Dan, Amati-Bonneau Patrizia, Bonneau Dominique, Procaccio Vincent, Reynier Pascal, Loiseau Dominique
Publikováno v:
BMC Research Notes, Vol 4, Iss 1, p 557 (2011)
Abstract Background Leber's hereditary optic neuropathy (LHON) is caused by mutations in the complex I subunits of the respiratory chain. Although patients have been treated with idebenone since 1992, the efficacy of the drug is still a matter of deb
Externí odkaz:
https://doaj.org/article/80c6d7ea44084cfc8253d0f7d096ccdd
Autor:
Xie Hongbo M, Perin Juan C, Schurr Theodore G, Dulik Matthew C, Zhadanov Sergey I, Baur Joseph A, King Michael P, Place Emily, Clarke Colleen, Grauer Michael, Schug Jonathan, Santani Avni, Albano Anthony, Kim Cecilia, Procaccio Vincent, Hakonarson Hakon, Gai Xiaowu, Falk Marni J
Publikováno v:
BMC Bioinformatics, Vol 12, Iss 1, p 402 (2011)
Abstract Background Mitochondrial genome sequence analysis is critical to the diagnostic evaluation of mitochondrial disease. Existing methodologies differ widely in throughput, complexity, cost efficiency, and sensitivity of heteroplasmy detection.
Externí odkaz:
https://doaj.org/article/dcffdad225634636bea90407e1fae4ca
Autor:
Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha S., Al-Maawali, Almundher, Srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Sawyer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingappa, Lokesh, McDunnah, Paige, Horvath, Rita, Cognè, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen W., Jafarnejad, Seyed Mehdi, Østergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., Maroofian, Reza
Publikováno v:
In Genetics in Medicine November 2023 25(11)
Autor:
Bobba-Alves, Natalia, Sturm, Gabriel, Lin, Jue, Ware, Sarah A., Karan, Kalpita R., Monzel, Anna S., Bris, Céline, Procaccio, Vincent, Lenaers, Guy, Higgins-Chen, Albert, Levine, Morgan, Horvath, Steve, Santhanam, Balaji S., Kaufman, Brett A., Hirano, Michio, Epel, Elissa, Picard, Martin
Publikováno v:
In Psychoneuroendocrinology September 2023 155
Autor:
Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, Wahbi, Karim
Publikováno v:
In Journal of the American College of Cardiology 11 October 2022 80(15):1421-1430
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