Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
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)
Get full text
Journal Article
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth
Owens, Daniel, Messéant, Julien, Moog, Sophie, Viggars, Mark, Ferry, Arnaud, Mamchaoui, Kamel, Lacène, Emmanuelle, Roméro, Norma, Brull, Astrid, Bonne, Gisèle, Butler-Browne, Gillian, Coirault, Catherine
Published in International journal of molecular sciences (30.12.2020)
Published in International journal of molecular sciences (30.12.2020)
Get full text
Journal Article
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Géraud, Justine, Dieterich, Klaus, Rendu, John, Uro Coste, Emmanuelle, Dobrzynski, Murielle, Marcorelle, Pascale, Ioos, Christine, Romero, Norma Beatriz, Baudou, Eloise, Brocard, Julie, Coville, Anne-Cécile, Fauré, Julien, Koenig, Michel, Juntas Morales, Raul, Lacène, Emmanuelle, Madelaine, Angéline, Marty, Isabelle, Pegeot, Henri, Theze, Corinne, Siegfried, Aurore, Cossee, Mireille, Cances, Claude
Published in Journal of medical genetics (01.09.2021)
Published in Journal of medical genetics (01.09.2021)
Get full text
Journal Article
Mutations in dynamin 2 cause dominant centronuclear myopathy
Bitoun, Marc, Maugenre, Svetlana, Jeannet, Pierre-Yves, Lacène, Emmanuelle, Ferrer, Xavier, Laforêt, Pascal, Martin, Jean-Jacques, Laporte, Jocelyn, Lochmüller, Hanns, Beggs, Alan H, Fardeau, Michel, Eymard, Bruno, Romero, Norma B, Guicheney, Pascale
Published in Nature genetics (01.11.2005)
Published in Nature genetics (01.11.2005)
Get full text
Journal Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
Get full text
Journal Article
Web Resource
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death
Bertrand, Anne T., Renou, Laure, Papadopoulos, Aurélie, Beuvin, Maud, Lacène, Emmanuelle, Massart, Catherine, Ottolenghi, Chris, Decostre, Valérie, Maron, Sophia, Schlossarek, Saskia, Cattin, Marie-Elodie, Carrier, Lucie, Malissen, Marie, Arimura, Takuro, Bonne, Gisèle
Published in Human molecular genetics (01.03.2012)
Published in Human molecular genetics (01.03.2012)
Get full text
Journal Article
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
Arimura, Takuro, Helbling-Leclerc, Anne, Massart, Catherine, Varnous, Shaida, Niel, Florence, Lacène, Emmanuelle, Fromes, Yves, Toussaint, Marcel, Mura, Anne-Marie, Keller, Dagmar I., Amthor, Helge, Isnard, Richard, Malissen, Marie, Schwartz, Ketty, Bonne, Gisèle
Published in Human molecular genetics (01.01.2005)
Published in Human molecular genetics (01.01.2005)
Get full text
Journal Article
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
Bui, Mai Thao, Fernández-Eulate, Gorka, Evangelista, Teresinha, Lacène, Emmanuelle, Brochier, Guy, Labasse, Clémence, Madelaine, Angéline, Chanut, Anaïs, Beuvin, Maud, Borsato-Levy, Favienne, Biancalana, Valérie, Barcia, Giulia, De Lonlay, Pascale, Laporte, Jocelyn, Böhm, Johann, Romero, Norma Beatriz
Published in Acta neuropathologica communications (20.12.2024)
Published in Acta neuropathologica communications (20.12.2024)
Get full text
Journal Article
Congenital Nemaline Myopathy with Dense Protein Masses
Bevilacqua, Jorge A, Malfatti, Edoardo, Labasse, Clémence, Brochier, Guy, Madelaine, Angeline, Lacène, Emmanuelle, Doray, Bérénice, Laforêt, Pascal, Eymard, Bruno, Rendu, John, Romero, Norma B
Published in Journal of neuropathology and experimental neurology (01.04.2022)
Published in Journal of neuropathology and experimental neurology (01.04.2022)
Get full text
Journal Article
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)
Get full text
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, 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)
Get full text
Journal Article
Web Resource
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacène, Emmanuelle, Romero, Norma, Koenig, Jeanine, Fournier, Emmanuel, Hantaï, Daniel, Streichenberger, Nathalie, Manel, Veronique, Lacour, Arnaud, Nadaj-Pakleza, Aleksandra, Sukno, Sylvie, Bouhour, Françoise, Laforêt, Pascal, Fontaine, Bertrand, Strochlic, Laure, Eymard, Bruno, Chevessier, Frédéric, Stojkovic, Tanya, Nicole, Sophie
Published in Journal of neurology (01.08.2017)
Published in Journal of neurology (01.08.2017)
Get full text
Journal Article
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)
Get full text
Journal Article
‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz
Published in Acta neuropathologica communications (05.01.2019)
Published in Acta neuropathologica communications (05.01.2019)
Get full text
Journal Article
Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders
Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz
Published in Journal of neuropathology and experimental neurology (01.09.2013)
Published in Journal of neuropathology and experimental neurology (01.09.2013)
Get full text
Journal Article
Early onset collagen VI myopathies: Genetic and clinical correlations
Briñas, Laura, Richard, Pascale, Quijano-Roy, Susana, Gartioux, Corine, Ledeuil, Céline, Lacène, Emmanuelle, Makri, Samira, Ferreiro, Ana, Maugenre, Svetlana, Topaloglu, Haluk, Haliloglu, Göknur, Pénisson-Besnier, Isabelle, Jeannet, Pierre-Yves, Merlini, Luciano, Navarro, Carmen, Toutain, Annick, Chaigne, Denys, Desguerre, Isabelle, de Die-Smulders, Christine, Dunand, Murielle, Echenne, Bernard, Eymard, Bruno, Kuntzer, Thierry, Maincent, Kim, Mayer, Michèle, Plessis, Ghislaine, Rivier, François, Roelens, Filip, Stojkovic, Tanya, Lía Taratuto, Ana, Lubieniecki, Fabiana, Monges, Soledad, Tranchant, Christine, Viollet, Louis, Romero, Norma B., Estournet, Brigitte, Guicheney, Pascale, Allamand, Valérie
Published in Annals of neurology (01.10.2010)
Published in Annals of neurology (01.10.2010)
Get full text
Journal Article
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel
Published in eLife (13.09.2016)
Published in eLife (13.09.2016)
Get full text
Journal Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
Bevilacqua, Jorge A., Bitoun, Marc, Biancalana, Valérie, Oldfors, Anders, Stoltenburg, Gisela, Claeys, Kristl G., Lacène, Emmanuelle, Brochier, Guy, Manéré, Linda, Laforêt, Pascal, Eymard, Bruno, Guicheney, Pascale, Fardeau, Michel, Romero, Norma Beatriz
Published in Acta neuropathologica (01.03.2009)
Published in Acta neuropathologica (01.03.2009)
Get full text
Journal Article
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation
Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale
Published in Neurology. Genetics (01.02.2022)
Published in Neurology. Genetics (01.02.2022)
Get full text
Journal Article
Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy
Cifuentes-Diaz, Carmen, Frugier, Tony, Tiziano, Francesco D., Lacène, Emmanuelle, Roblot, Natacha, Joshi, Vandana, Moreau, Marie Helene, Melki, Judith
Published in The Journal of cell biology (05.03.2001)
Published in The Journal of cell biology (05.03.2001)
Get full text
Journal Article