Zobrazeno 1 - 10
of 508
pro vyhledávání: '"A. Buj Bello"'
Autor:
Amelie Raby, Sonia Missiroli, Peggy Sanatine, Dominique Langui, Julien Pansiot, Nissai Beaude, Lucie Vezzana, Rachelle Saleh, Martina Marinello, Mireille Laforge, Paolo Pinton, Ana Buj-Bello, Andrea Burgo
Publikováno v:
iScience, Vol 27, Iss 9, Pp 110683- (2024)
Summary: Mitochondria-endoplasmic reticulum (ER) contact sites (MERCs) emerged to play critical roles in numerous cellular processes, and their dysregulation has been associated to neurodegenerative disorders. Mutations in the SPG4 gene coding for sp
Externí odkaz:
https://doaj.org/article/7c8d77dc77d541b690d64de75d52c7d1
Autor:
Raby, Amelie, Missiroli, Sonia, Sanatine, Peggy, Langui, Dominique, Pansiot, Julien, Beaude, Nissai, Vezzana, Lucie, Saleh, Rachelle, Marinello, Martina, Laforge, Mireille, Pinton, Paolo, Buj-Bello, Ana, Burgo, Andrea
Publikováno v:
In iScience 20 September 2024 27(9)
Autor:
Shieh, Perry B *, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador
Publikováno v:
In The Lancet Neurology December 2023 22(12):1125-1139
Akademický článek
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Autor:
Bullivant, Joanne, Sen, Anando, Page, Jess, Graham, Robert J., Jungbluth, Heinz, Schara-Schmidt, Ulrike, Lynch, Orla, Bönnemann, Carsten, Hollander, Aart den, Lennox, Anne, Moat, Dionne, Saegert, Claudia, Amburgey, Kimberly, Buj-Bello, Ana, Dowling, James J., Marini-Bettolo, Chiara
Publikováno v:
In Neuromuscular Disorders October 2023
Autor:
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)
Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course
Externí odkaz:
https://doaj.org/article/aa0b0640d52441babc07367bace6ddce
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kutchukian, Candice, Scrudato, Mirella Lo, Tourneur, Yves, Poulard, Karine, Vignaud, Alban, Berthier, Christine, Allard, Bruno, Lawlor, Michael W., Buj-Bello, Ana, Jacquemond, Vincent
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2016 Dec . 113(50), 14432-14437.
Externí odkaz:
https://www.jstor.org/stable/26472855
Autor:
Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2002 Nov 01. 99(23), 15060-15065.
Externí odkaz:
https://www.jstor.org/stable/3073717
Autor:
Mack, David L., Poulard, Karine, Goddard, Melissa A., Latournerie, Virginie, Snyder, Jessica M., Grange, Robert W., Elverman, Matthew R., Denard, Jérôme, Veron, Philippe, Buscara, Laurine, Le Bec, Christine, Hogrel, Jean-Yves, Brezovec, Annie G., Meng, Hui, Yang, Lin, Liu, Fujun, O’Callaghan, Michael, Gopal, Nikhil, Kelly, Valerie E., Smith, Barbara K., Strande, Jennifer L., Mavilio, Fulvio, Beggs, Alan H., Mingozzi, Federico, Lawlor, Michael W., Buj-Bello, Ana, Childers, Martin K.
Publikováno v:
In Molecular Therapy 5 April 2017 25(4):839-854