A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers
Evangelista, Teresinha, Lornage, Xavière, Carlier, Pierre G, Bassez, Guillaume, Brochier, Guy, Chanut, Anais, Lacène, Emmanuelle, Bui, Mai-Thao, Metay, Corinne, Oppermann, Ursula, Böhm, Johann, Laporte, Jocelyn, Romero, Norma B
Published in Journal of neuropathology and experimental neurology (01.08.2020)
Published in Journal of neuropathology and experimental neurology (01.08.2020)
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Ávila-Polo, Rainiero, Malfatti, Edoardo, Lornage, Xavière, Cheraud, Chrystel, Nelson, Isabelle, Nectoux, Juliette, Böhm, Johann, Schneider, Raphaël, Hedberg-Oldfors, Carola, Eymard, Bruno, Monges, Soledad, Lubieniecki, Fabiana, Brochier, Guy, Thao Bui, Mai, Madelaine, Angeline, Labasse, Clémence, Beuvin, Maud, Lacène, Emmanuelle, Boland, Anne, Deleuze, Jean-François, Thompson, Julie, Richard, Isabelle, Taratuto, Ana Lía, Udd, Bjarne, Leturcq, France, Bonne, Gisèle, Oldfors, Anders, Laporte, Jocelyn, Romero, Norma Beatriz
Published in Journal of neuropathology and experimental neurology (01.12.2018)
Published in Journal of neuropathology and experimental neurology (01.12.2018)
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Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy
Trochet, Delphine, Prudhon, Bernard, Mekzine, Lylia, Lemaitre, Mégane, Beuvin, Maud, Julien, Laura, Benkhelifa-Ziyyat, Sofia, Bui, Mai Thao, Romero, Norma, Bitoun, Marc
Published in Molecular therapy. Nucleic acids (08.03.2022)
Published in Molecular therapy. Nucleic acids (08.03.2022)
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Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle
Franck, Agathe, Lainé, Jeanne, Moulay, Gilles, Lemerle, Eline, Trichet, Michaël, Gentil, Christel, Benkhelifa-Ziyyat, Sofia, Lacène, Emmanuelle, Bui, Mai Thao, Brochier, Guy, Guicheney, Pascale, Romero, Norma, Bitoun, Marc, Vassilopoulos, Stéphane
Published in Molecular biology of the cell (01.03.2019)
Published in Molecular biology of the cell (01.03.2019)
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
Böhm, Johann, Lornage, Xavière, Chevessier, Frederic, Birck, Catherine, Zanotti, Simona, Cudia, Paola, Bulla, Monica, Granger, Florence, Bui, Mai Thao, Sartori, Maxime, Schneider-Gold, Christiane, Malfatti, Edoardo, Romero, Norma B., Mora, Marina, Laporte, Jocelyn
Published in Acta neuropathologica (01.01.2018)
Published in Acta neuropathologica (01.01.2018)
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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
Berardo, Andrés, Lornage, Xavière, Johari, Mridul, Evangelista, Teresinha, Cejas, Claudia, Barroso, Fabio, Dubrovsky, Alberto, Bui, Mai Thao, Brochier, Guy, Saccoliti, Maria, Bohm, Johann, Udd, Bjarne, Laporte, Jocelyn, Romero, Norma Beatriz, Taratuto, Ana Lia
Published in Journal of neurology (01.10.2019)
Published in Journal of neurology (01.10.2019)
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Journal Article
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
González-Jamett, Arlek M., Baez-Matus, Ximena, Olivares, María José, Hinostroza, Fernando, Guerra-Fernández, Maria José, Vasquez-Navarrete, Jacqueline, Bui, Mai Thao, Guicheney, Pascale, Romero, Norma Beatriz, Bevilacqua, Jorge A., Bitoun, Marc, Caviedes, Pablo, Cárdenas, Ana M.
Published in Scientific reports (04.07.2017)
Published in Scientific reports (04.07.2017)
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Erratum for Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study
Evangelista, Teresinha, Kandji, Malick, Lacene, Emmanuelle, Chanut, Anaïs, Bui, Mai Thao, Marty, Rudy, Buffat, Laurent, Knoblauch, Kenneth, Rudkin, Brian B., Romero, Norma Beatriz
Published in EBioMedicine (01.01.2023)
Published in EBioMedicine (01.01.2023)
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B
Published in Acta neuropathologica communications (09.07.2022)
Published in Acta neuropathologica communications (09.07.2022)
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lía, Böhm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., Laporte, Jocelyn
Published in Acta neuropathologica (01.04.2017)
Published in Acta neuropathologica (01.04.2017)
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Journal Article
Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study
Evangelista, Teresinha, Kandji, Malick, Lacene, Emmanuelle, Chanut, Anaïs, Bui, Mai Thao, Marty, Rudy, Buffat, Laurent, Knoblauch, Kenneth, Rudkin, Brian B., Romero, Norma Beatriz
Published in EBioMedicine (01.12.2022)
Published in EBioMedicine (01.12.2022)
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Journal Article
Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional studyResearch in context
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Published in EBioMedicine (01.12.2022)
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Published in EBioMedicine (01.12.2022)
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A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation
Echaniz‐Laguna, Andoni, Lornage, Xavière, Laforêt, Pascal, Orngreen, Mette C., Edelweiss, Evelina, Brochier, Guy, Bui, Mai T., Silva‐Rojas, Roberto, Birck, Catherine, Lannes, Béatrice, Romero, Norma B., Vissing, John, Laporte, Jocelyn, Böhm, Johann
Published in Annals of neurology (01.08.2020)
Published in Annals of neurology (01.08.2020)
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Human diaphragm atrophy in amyotrophic lateral sclerosis is not predicted by routine respiratory measures
Guimarães-Costa, Raquel, Similowski, Thomas, Rivals, Isabelle, Morélot-Panzini, Capucine, Nierat, Marie-Cécile, Bui, Mai Thao, Akbar, David, Straus, Christian, Romero, Norma Beatriz, Michel, Patrick Pierre, Menegaux, Fabrice, Salachas, François, Gonzalez-Bermejo, Jésus, Bruneteau, Gaëlle
Published in The European respiratory journal (01.02.2019)
Published in The European respiratory journal (01.02.2019)
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Journal Article
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Buj-Bello, Ana, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma
Published in Acta neuropathologica communications (09.07.2022)
Published in Acta neuropathologica communications (09.07.2022)
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Journal Article
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
González-Jamett, Arlek M, Baez-Matus, Ximena, Olivares, María José, Hinostroza, Fernando, Guerra-Fernández, Maria José, Vasquez-Navarrete, Jacqueline, Bui, Mai Thao, Guicheney, Pascale, Romero, Norma Beatriz, Bevilacqua, Jorge A, Bitoun, Marc, Caviedes, Pablo, Cárdenas, Ana M
Published in Scientific reports (04.07.2017)
Published in Scientific reports (04.07.2017)
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Journal Article
Mechanosensitive clathrin platforms anchor desmin intermediate filaments in skeletal muscle
Franck, Agathe, Laine, Jeanne, Gilles Moulay, Trichet, Michael, Gentil, Christel, Fongy, Anais, Bigot, Anne, Benkhelifa-Ziyyat, Sofia, Lacene, Emmanuelle, Mai Thao Bui, Brochier, Guy, Guicheney, Pascale, Sacconi, Sabrina, Mouly, Vincent, Romero, Norma Beatriz, Coirault, Catherine, Bitoun, Marc, Vassilopoulos, Stephane
Published in bioRxiv (18.07.2018)
Published in bioRxiv (18.07.2018)
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