نتائج البحث - Cerino, Mathieu

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports حسب Gorokhov, Mark, Cerino, Mathieu, Mortreux, Jérémie, Riccardi, Florence, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Gorokhova, Svetlana

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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions حسب Ballouhey, Océane, Courrier, Sébastien, Kergourlay, Virginie, Gorokhova, Svetlana, Cerino, Mathieu, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc

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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders حسب Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc

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Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy حسب Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Le Goanvic, Brigitte, Blanck, Véronique, Salvi, Alexandra, Lévy, Nicolas, Krahn, Martin, Choumert, Ariane

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Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy حسب Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Kergourlay, Virginie, Salvo, Eric, Bernard, Rafaëlle, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin

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Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy حسب Cerino, Mathieu, Di Meglio, Chloé, Albertini, Francesca, Audic, Frédérique, Riccardi, Florence, Boulay, Christophe, Philip, Nicole, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin, Chabrol, Brigitte

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A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing حسب Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie

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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population حسب Cerino, Mathieu, González-Hormazábal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Díaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortés, Rocío, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.

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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency حسب Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, Petit, François M.

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing حسب Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille

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