Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Norma Romero"'
Autor:
Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, Laura Julien, Sofia Benkhelifa-Ziyyat, Mai Thao Bui, Norma Romero, Marc Bitoun
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 1179-1190 (2022)
Dominant dynamin 2 (DNM2) mutations are responsible for the autosomal dominant centronuclear myopathy (AD-CNM), a rare progressive neuromuscular disorder ranging from severe neonatal to mild adult forms. We previously demonstrated that mutant-specifi
Externí odkaz:
https://doaj.org/article/3866d36cc9c9433796905ac149308456
Autor:
Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Florence Habarou, Marie-Ange Nguyen Morel, Bertrand Boisson, Sabrina Vergnaud, Mai Thao Viou, Luc Nonnenmacher, Monique Piraud, Patrick Nusbaum, Joseph Vamecq, Norma Romero, Chris Ottolenghi, Jean-Laurent Casanova, Pascale de Lonlay
Publikováno v:
PLoS Genetics, Vol 10, Iss 11, p e1004711 (2014)
Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia.
Externí odkaz:
https://doaj.org/article/3473475ac66b4e78b0e843eda9d685cc
Autor:
Eline Lemerle, Jeanne Lainé, Gilles Moulay, Anne Bigot, Clémence Labasse, Angeline Madelaine, Alexis Canette, Perrine Aubin-Tessier, Jean-Michel Vallat, Norma Romero, Marc Bitoun, Vincent Mouly, Isabelle Marty, Bruno Cadot, Laura Picas, Stéphane Vassilopoulos
Excitation-contraction coupling requires a highly specialized membrane structure, the triad, composed of a plasma membrane invagination, the T-tubule, surrounded by two sarcoplasmic reticulum terminal cisternae. Although the precise mechanisms govern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::408e4159e90f0fb70d18195e4c065a88
https://doi.org/10.1101/2022.11.01.514746
https://doi.org/10.1101/2022.11.01.514746
Autor:
Delphine, Trochet, Bernard, Prudhon, Lylia, Mekzine, Mégane, Lemaitre, Maud, Beuvin, Laura, Julien, Sofia, Benkhelifa-Ziyyat, Mai Thao, Bui, Norma, Romero, Marc, Bitoun
Publikováno v:
Molecular therapy. Nucleic acids. 27
Dominant dynamin 2 (DNM2) mutations are responsible for the autosomal dominant centronuclear myopathy (AD-CNM), a rare progressive neuromuscular disorder ranging from severe neonatal to mild adult forms. We previously demonstrated that mutant-specifi
Autor:
Sebastian Montealegre, Elise Lebigot, Hugo Debruge, Norma Romero, Bénédicte Héron, Pauline Gaignard, Antoine Legendre, Apolline Imbard, Stéphanie Gobin, Emmanuelle Lacène, Patrick Nusbaum, Arnaud Hubas, Isabelle Desguerre, Aude Servais, Pascal Laforêt, Peter van Endert, François Jérome Authier, Cyril Gitiaux, Pascale de Lonlay
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Background and ObjectivesTo determine common clinical and biological traits in 2 individuals with variants in ISCU and FDX2, displaying severe and recurrent rhabdomyolyses and lactic acidosis.MethodsWe performed a clinical characterization of 2 disti
Autor:
Ana Topf, Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese, Kristen Laricchia, Cristina Venturini, Bas Vroling, Beryl Cummings, Rita Barresi, Elizabeth Harris, Chiara Marini Bettolo, Dan Cox, Jennifer Duff, Eleina England, Jane Patrick, Valerie Biancalana, Shobhana Bommireddipalli, Carsten Bonnemann, Anita Cairns, Mei Chiew, Kristl G. Claeys, Sandra Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xaviere Lornage, Wolfgang Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Marti, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Narumi Ogonuki, Gina O'Grady, Stephanie Paquay, Rahul Phadke, Beth Pletcher, Norma Romero, Meyke Schouten, Snehal Shah, Yves Sznajer, Giorgio Tasca, Allysa Tuite, Peter van den Bergh, Nicol Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Vilchez, Daniel Macarthur, Anna Sarkozy, Bjarne Udd, Elisabeth Busch-Nentwich, Francesco Muntoni, Volker Straub
Publikováno v:
SSRN Electronic Journal.
Akademický článek
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Autor:
Constantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, Tanya Stojkovic, Karim Wahbi, Robert-Yves Carlier, Pierre G Carlier, Sarah Leonard-Louis, France Leturcq, Norma Romero, Bruno Eymard, Anthony Behin
Publikováno v:
Muscle & Nerve. 56:1096-1100
Introduction Patients with anoctamin-5 (ANO5) mutations may present not only with limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials a
Autor:
Rabah, Ben Yaou, Aurélie, Hubert, Isabelle, Nelson, Julia R, Dahlqvist, David, Gaist, Nathalie, Streichenberger, Maud, Beuvin, Martin, Krahn, Philippe, Petiot, Frédéric, Parisot, Fabrice, Michel, Edoardo, Malfatti, Norma, Romero, Robert Yves, Carlier, Bruno, Eymard, Philippe, Labrune, Morten, Duno, Thomas, Krag, Mathieu, Cerino, Marc, Bartoli, Gisèle, Bonne, John, Vissing, Pascal, Laforet, François M, Petit
Publikováno v:
Neurology: Genetics
Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9
Autor:
Johann, Böhm, Monica, Bulla, Jill E, Urquhart, Edoardo, Malfatti, Simon G, Williams, James, O'Sullivan, Anastazja, Szlauer, Catherine, Koch, Giovanni, Baranello, Marina, Mora, Michela, Ripolone, Raffaella, Violano, Maurizio, Moggio, Helen, Kingston, Timothy, Dawson, Christian G, DeGoede, John, Nixon, Anne, Boland, Jean-François, Deleuze, Norma, Romero, William G, Newman, Nicolas, Demaurex, Jocelyn, Laporte
Publikováno v:
Human Mutation
Human Mutation, 2017, 38 (4), pp.426-438. ⟨10.1002/humu.23172⟩
Böhm, J, Bulla, M, Urquhart, J E, Malfatti, E, Williams, S, O'Sullivan, J, Szlauer, A, Koch, C, Baranello, G, Mora, M, Ripolone, M, Violano, R, Moggio, M, Kingston, H, Dawson, T, DeGoede, C G, Nixon, J, Boland, A, Deleuze, J-F, Romero, N, Newman, W G, Demaurex, N & Laporte, J 2017, ' ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy ', Human Mutation, vol. 38, no. 4 . https://doi.org/10.1002/humu.23172
Human Mutation, Vol. 38, No 4 (2017) pp. 426-438
Human Mutation, 2017, 38 (4), pp.426-438. ⟨10.1002/humu.23172⟩
Böhm, J, Bulla, M, Urquhart, J E, Malfatti, E, Williams, S, O'Sullivan, J, Szlauer, A, Koch, C, Baranello, G, Mora, M, Ripolone, M, Violano, R, Moggio, M, Kingston, H, Dawson, T, DeGoede, C G, Nixon, J, Boland, A, Deleuze, J-F, Romero, N, Newman, W G, Demaurex, N & Laporte, J 2017, ' ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy ', Human Mutation, vol. 38, no. 4 . https://doi.org/10.1002/humu.23172
Human Mutation, Vol. 38, No 4 (2017) pp. 426-438
Calcium (Ca(2+) ) is a physiological key factor, and the precise modulation of free cytosolic Ca(2+) levels regulates multiple cellular functions. Store-operated Ca(2+) entry (SOCE) is a major mechanism controlling Ca(2+) homeostasis, and is mediated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2a76a234eedc471dba704676315a92b3
https://hal.science/hal-03679171
https://hal.science/hal-03679171