Search Results - "Mathieu, Cerino"

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution by Ozisik, Ozan, Gorokhova, Svetlana, Cerino, Mathieu, Bartoli, Marc, Baudot, Anaïs

“…Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between…”
Get full text

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients by Charnay, Théo, Blanck, Véronique, Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Bonello-Palot, Nathalie, Pécheux, Christophe, Nguyen, Karine, Lévy, Nicolas, Gorokhova, Svetlana, Krahn, Martin

“…Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic…”
Get full text

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

“…In order to properly interpret the results of a diagnostic gene panel sequencing test, gene coverage needs to be taken into consideration. If coverage is too…”
Get full text

First characterization of congenital myasthenic syndrome type 5 in North Africa by Khaoula, Rochdi, Cerino, Mathieu, Da Silva, Nathalie, Delague, Valerie, Nahili, Halima, Kriouile, Yamna, Gorokhova, Svetlana, Bartoli, Marc, Saïle, Rachid, Barakat, Abdelhamid, Krahn, Martin

“…Background Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders…”
Get full text

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care by Vecten, Maude, Pion, Emmanuelle, Bartoli, Marc, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tanya, Bourdain, Cécile Acquaviva, Métay, Corinne, Richard, Isabelle, Cerino, Mathieu, Milh, Mathieu, Campana-Salort, Emmanuelle, Gorokhova, Svetlana, Levy, Nicolas, Latypova, Xénia, Bonne, Gisèle, Biancalana, Valérie, Petit, François, Molon, Annamaria, Perrin, Aurélien, Laforêt, Pascal, Attarian, Shahram, Krahn, Martin, Cossée, Mireille

“…The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more…”
Get full text

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

“…Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a…”
Get full text

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

“…Background GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal…”
Get full text

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans by Desgrouas, Camille, Thalheim, Tabea, Cerino, Mathieu, Badens, Catherine, Bonello-Palot, Nathalie

“…Abstract The function of perilipin 1 in human metabolism was recently highlighted by the description of PLIN1 variants associated with various pathologies…”
Get full text

Motor axonal neuropathy associated with GNE mutations by Grecu, Nicolae, Villa, Luisa, Cavalli, Michele, Ristaino, Antoine, Choumert, Ariane, Butori, Catherine, Salviati, Leonardo, Puma, Angela, Krahn, Martin, Cerino, Mathieu, Sacconi, Sabrina

“…Background Mutations in the GNE gene have been so far described as predominantly associated with distal lower‐limb myopathies. Recent reports describe…”
Get full text

Refining NGS diagnosis of muscular disorders by Cerino, Mathieu, Salort-Campana, Emmanuelle, Gorokhova, Svetlana, Sevy, Amandine, Bonello-Palot, Nathalie, Levy, Nicolas, Attarian, Shahram, Bartoli, Marc, Krahn, Martin

“…In our original publication by Sevy et al,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the…”
Get full text

A novel SUPT5H variant associated with a beta‐thalassaemia trait by Charnay, Theo, Cerino, Mathieu, Gonnet, Katia, Bonello‐Palot, Nathalie, Bréchard, Marie‐Pierre, Badens, Catherine

Get full text

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder by Rochdi, Khaoula, Cerino, Mathieu, Da Silva, Nathalie, Delague, Valerie, Bouzidi, Aymane, Nahili, Halima, Zouiri, Ghizlane, Kriouile, Yamna, Gorokhova, Svetlana, Bartoli, Marc, Saïle, Rachid, Barakat, Abdelhamid, Krahn, Martin

“…•NGS was used to identify homozygous mutation in two unrelated patients with neuromuscular disorders.•SIL1 mutation identified for the first time in the…”
Get full text

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients by Charnay, Théo, Blanck, Véronique, Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Bonello-Palot, Nathalie, Pécheux, Christophe, Nguyen, Karine, Lévy, Nicolas, Gorokhova, Svetlana, Krahn, Martin

“…PURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the…”
Get full text

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing by 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

“…Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of…”
Get full text

Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes by Vecten, Maude, Pion, Emmanuelle, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tania, Acquaviva-Bourdain, Cecile, Metay, Corrine, Richard, Isabelle, Villard, Laurent, Cerino, Mathieu, Milh, Mathieu, Gorokhova, Sevtlana, Levy, Nicolas, Martin, Xenia, Bonne, Gisele, Biancalana, Valerie, Petit, Francois, Perrin, Aurelien, Laforet, Pascal, Bartoli, Marc, Cossee, Mireille, Krahn, Martin

Get full text

High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome by Bonello-Palot, Nathalie, Laine, Marc, Cuisset, Thomas, Ronchard, Thibault, Desgrouas, Camille, Merono, Françoise, Ibrahim-Kosta, Manal, Cerino, Mathieu, Blanchard, Arnaud, Bourgeois, Patrice, Levy, Nicolas, Loundou, Anderson, Morange, Pierre-Emmanuel, Alessi, Marie-Christine, Badens, Catherine, Bonello, Laurent

“…Genetic partial lipodystrophies are rare heterogeneous disorders characterized by abnormalities of fat distribution and associated metabolic complications…”
Get full text

Novel CAPN3 variant associated with an autosomal dominant calpainopathy by Cerino, M., Campana‐Salort, E., Salvi, A., Cintas, P., Renard, D., Juntas Morales, R., Tard, C., Leturcq, F., Stojkovic, T., Bonello‐Palot, N., Gorokhova, S., Mortreux, J., Maues De Paula, A., Lévy, N., Pouget, J., Cossée, M., Bartoli, M., Krahn, M., Attarian, S.

“…Aims The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this…”
Get full text

Clinical characteristics of spectrum of GNE gene mutations in Reunion-Island cohort by Grigorashvili-Coin, I., Campech, M., Darcel, F., Jacquemont, M., Kranh, M., Cerino, M., Choumert, A.

Get full text

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing by Sevy, Amandine, Cerino, Mathieu, Gorokhova, Svetlana, Dionnet, Eugénie, Mathieu, Yves, Verschueren, Annie, Franques, Jérôme, Maues de Paula, André, Figarella-Branger, Dominique, Lagarde, Arnaud, Desvignes, Jean Pierre, Béroud, Christophe, Attarian, Shahram, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, Campana-Salort, Emmanuelle, Pouget, Jean

Get full text

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing by 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

“…Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot-Marie-Tooth disease (CMT) and related disorders called…”
Get full text