Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Montaut, Solveig, Diedhiou, Nadège, Fahrer, Pauline, Marelli, Cécilia, Lhermitte, Benoit, Robelin, Laura, Vincent, Marie Claire, Corti, Lucas, Taieb, Guillaume, Gebus, Odile, Rudolf, Gabrielle, Tarabeux, Julien, Dondaine, Nicolas, Canuet, Matthieu, Almeras, Marilyne, Benkirane, Mehdi, Larrieu, Lise, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Echaniz-Laguna, Andoni, Cauquil, Cécile, Lannes, Béatrice, Chelly, Jamel, Anheim, Mathieu, Puccio, Hélène, Tranchant, Christine
Published in Journal of neurology (01.09.2021)
Published in Journal of neurology (01.09.2021)
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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan
Published in Brain (London, England : 1878) (01.12.2014)
Published in Brain (London, England : 1878) (01.12.2014)
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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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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, Laporte, Jocelyn
Published in Acta neuropathologica (01.12.2017)
Published in Acta neuropathologica (01.12.2017)
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HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
Echaniz-Laguna, Andoni, Lornage, Xavière, Lannes, Béatrice, Schneider, Raphaël, Bierry, Guillaume, Dondaine, Nicolas, Boland, Anne, Deleuze, Jean-François, Böhm, Johann, Thompson, Julie, Laporte, Jocelyn, Biancalana, Valérie
Published in Acta neuropathologica (01.07.2017)
Published in Acta neuropathologica (01.07.2017)
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Brennan Spitale, Allison, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Published in Human mutation (01.06.2012)
Published in Human mutation (01.06.2012)
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A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
Tosch, Valérie, Rohde, Holger M., Tronchère, Hélène, Zanoteli, Edmar, Monroy, Nancy, Kretz, Christine, Dondaine, Nicolas, Payrastre, Bernard, Mandel, Jean-Louis, Laporte, Jocelyn
Published in Human molecular genetics (01.11.2006)
Published in Human molecular genetics (01.11.2006)
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Biancalana, Valérie, Rendu, John, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent, Sacconi, Sabrina, Romero, Norma B, Marcorelles, Pascale, Authier, François Jérôme, Gelot Bernabe, Antoinette, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand, Magot, Armelle, Minot-Myhie, Marie-Christine, Péréon, Yann, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana, Laporte, Jocelyn, Fauré, Julien, Böhm, Johann
Published in Acta neuropathologica communications (17.09.2021)
Published in Acta neuropathologica communications (17.09.2021)
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Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
Tosch, Valérie, Vasli, Nasim, Kretz, Christine, Nicot, Anne-Sophie, Gasnier, Claire, Dondaine, Nicolas, Oriot, Denis, Barth, Magalie, Puissant, Hugues, Romero, Norma B, Bönnemann, Carsten G, Heller, Betty, Duval, Gilles, Biancalana, Valérie, Laporte, Jocelyn
Published in Neuromuscular disorders : NMD (01.06.2010)
Published in Neuromuscular disorders : NMD (01.06.2010)
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Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
Echaniz-Laguna, Andoni, Nicot, Anne-Sophie, Carré, Sophie, Franques, Jérôme, Tranchant, Christine, Dondaine, Nicolas, Biancalana, Valérie, Mandel, Jean-Louis, Laporte, Jocelyn
Published in Neuromuscular disorders : NMD (01.12.2007)
Published in Neuromuscular disorders : NMD (01.12.2007)
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Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1
Kouwenberg, Carlyn, Bohm, Johann, Erasmus, Corrie, van Balken, Irene, Vos, Sandra, Kusters, Benno, Kamsteeg, Erik-Jan, Biancalana, Valerie, Koch, Catherine, Dondaine, Nicolas, Laporte, Jocelyn, Voermans, Nicol
Published in Journal of neuromuscular diseases (2017)
Published in Journal of neuromuscular diseases (2017)
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