Search Results - "Bui, Mai Thao"

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers by 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

“…Abstract Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated…”
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies by 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

“…Abstract Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to…”
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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 by Trochet, Delphine, Prudhon, Bernard, Mekzine, Lylia, Lemaitre, Mégane, Beuvin, Maud, Julien, Laura, Benkhelifa-Ziyyat, Sofia, Bui, Mai Thao, Romero, Norma, Bitoun, Marc

“…Dominant dynamin 2 (DNM2) mutations are responsible for the autosomal dominant centronuclear myopathy (AD-CNM), a rare progressive neuromuscular disorder…”
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Muscle biopsy in the neonatal and perinatal period: a retrospective study of 535 cases by Romero, Norma Beatriz, Thao Bui, Mai

“…Neuromuscular diseases with neonatal or perinatal onset are usually very severe. Their diagnosis requires rigorous studies in order to determine the cause of…”
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Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle by 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

“…Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres that…”
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy by 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

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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes by 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

“…Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL . Only three unrelated families…”
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Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells by 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.

“…Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics…”
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Erratum for Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study by Evangelista, Teresinha, Kandji, Malick, Lacene, Emmanuelle, Chanut, Anaïs, Bui, Mai Thao, Marty, Rudy, Buffat, Laurent, Knoblauch, Kenneth, Rudkin, Brian B., Romero, Norma Beatriz

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies by 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

“…Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges…”
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy by 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

“…Muscle contraction upon nerve stimulation relies on excitation–contraction coupling (ECC) to promote the rapid and generalized release of calcium within…”
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Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study by Evangelista, Teresinha, Kandji, Malick, Lacene, Emmanuelle, Chanut, Anaïs, Bui, Mai Thao, Marty, Rudy, Buffat, Laurent, Knoblauch, Kenneth, Rudkin, Brian B., Romero, Norma Beatriz

“…Normative values for different morphometric parameters of muscle fibres during paediatric development, i.e. from 0 to 18 years, are currently unavailable. They…”
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Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional studyResearch in context by Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero

“…Background: Normative values for different morphometric parameters of muscle fibres during paediatric development, i.e. from 0 to 18 years, are currently…”
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A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation by 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

“…Objective Glycogen storage diseases (GSDs) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate…”
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Human diaphragm atrophy in amyotrophic lateral sclerosis is not predicted by routine respiratory measures by 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

“…Amyotrophic lateral sclerosis (ALS) patients show progressive respiratory muscle weakness leading to death from respiratory failure. However, there are no data…”
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies by 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

“…Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges…”
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Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells by 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

“…Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics…”
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy by 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

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