Search Results - "BIANCALANA, Valérie"

X-linked myotubular myopathy: A prospective international natural history study by Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, DʼAmico, Adele, Dowling, James J, Darras, Basil T, Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves, Landy, Hal, Servais, Laurent

“…OBJECTIVESBecause X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic…”
Get full text

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations by 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

“…Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear…”
Get full text

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…”
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

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy by Lefeuvre, Claire, Schaeffer, Stéphane, Carlier, Robert-Yves, Fournier, Maxime, Chapon, Françoise, Biancalana, Valérie, Nicolas, Guillaume, Malfatti, Edoardo, Laforêt, Pascal

“…Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of…”
Get full text

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…”
Get full text

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels by Abath Neto, Osorio, MD, PhD, Silva, Marina Rodrigues e, Martins, Cristiane de Araújo, MD, Oliveira, Acary de Souza Bulle, MD, PhD, Reed, Umbertina Conti, MD, PhD, Biancalana, Valérie, PhD, Pesquero, João Bosco, PhD, Laporte, Jocelyn, PhD, Zanoteli, Edmar, MD, PhD

“…Abstract Background Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial…”
Get full text

Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients by Neto, Osorio Abath, de Araújo Martins Moreno, Cristiane, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-Goebel, Diana Xerxes, Monges, Soledad, Lubieniecki, Fabiana, Collins, James, Medne, Līvija, Santi, Mariarita, Yum, Sabrina, Banwell, Brenda, Salort-Campana, Emmanuelle, Rendu, John, Fauré, Julien, Yis, Uluc, Eymard, Bruno, Cheraud, Chrystel, Schneider, Raphaël, Thompson, Julie, Lornage, Xaviere, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Reed, Umbertina Conti, Oliveira, Acary Souza Bulle, Biancalana, Valérie, Romero, Norma B, Bönemann, Carsten G, Laporte, Jocelyn, Zanoteli, Edmar

“…Highlights • Large international cohort in a collaborative effort to detail AR RYR1 -CNM patients • Ocular, facial, respiratory, and thoracospinal involvement…”
Get full text

Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression by Monseur, Arnaud, Carlin, Bradley P., Boulanger, Bruno, Seferian, Andreea, Servais, Laurent, Freitag, Chris, Thielemans, Leen

“…The small sample sizes inherent in rare and pediatric disease settings offer significant challenges for clinical trial design. In such settings, Bayesian…”
Get full text

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders by Biancalana, Valérie, Glaeser, Dieter, McQuaid, Shirley, Steinbach, Peter

“…Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An…”
Get full text

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei by Lornage, Xavière, Sabouraud, Pascal, Lannes, Béatrice, Gaillard, Dominique, Schneider, Raphaël, Deleuze, Jean-François, Boland, Anne, Thompson, Julie, Böhm, Johann, Biancalana, Valérie, Laporte, Jocelyn

“…Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive…”
Get more information

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study by Echaniz‐Laguna, Andoni, Nadjar, Yann, Béhin, Anthony, Biancalana, Valérie, Piraud, Monique, Malfatti, Edoardo, Laforêt, Pascal

“…Phosphoglycerate kinase (PGK) deficiency is a rare X‐linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various…”
Get full text

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations by de Feraudy, Yvan, Vandroux, Marie, Romero, Norma Beatriz, Schneider, Raphaël, Saker, Safaa, Boland, Anne, Deleuze, Jean-François, Biancalana, Valérie, Böhm, Johann, Laporte, Jocelyn

“…Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a…”
Get full text

A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease by Puma, Angela, Ezaru, Andra, Cavalli, Michele, Villa, Luisa, Torre, Federico, Biancalana, Valérie, Levade, Thierry, Grecu, Nicolae, Sacconi, Sabrina

Get full text

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation by Morin, Gilles, Biancalana, Valérie, Echaniz‐Laguna, Andoni, Noury, Jean‐Baptiste, Lornage, Xavière, Moggio, Maurizio, Ripolone, Michela, Violano, Raffaella, Marcorelles, Pascale, Maréchal, Denis, Renaud, Florence, Maurage, Claude‐Alain, Tard, Céline, Cuisset, Jean‐Marie, Laporte, Jocelyn, Böhm, Johann

“…Calcium (Ca2+) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca2+ entry, storage,…”
Get full text

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy by Lornage, Xavière, Mallaret, Martial, Silva-Rojas, Roberto, Biancalana, Valérie, Giovannini, Diane, Dieterich, Klaus, Saker, Safaa, Deleuze, Jean-François, Wuyam, Bernard, Laporte, Jocelyn, Böhm, Johann

“…The nuclear envelope (NE) separates the nucleus from the cytoplasm in all eukaryotic cells. A disruption of the NE structure compromises normal gene regulation…”
Get full text

Next generation sequencing for molecular diagnosis of neuromuscular diseases by Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn

“…Inherited neuromuscular disorders (NMD) are chronic genetic diseases posing a significant burden on patients and the health care system. Despite tremendous…”
Get full text

Integrative data mining highlights candidate genes for monogenic myopathies by Abath Neto, Osorio, Tassy, Olivier, Biancalana, Valérie, Zanoteli, Edmar, Pourquié, Olivier, Laporte, Jocelyn

“…Inherited myopathies are a heterogeneous group of disabling disorders with still barely understood pathological mechanisms. Around 40% of afflicted patients…”
Get full text

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation by Rousseau, François, Heitz, Dominique, Biancalana, Valérie, Blumenfeld, Sandra, Kretz, Christine, Boué, Joëlle, Tommerup, Niels, Hagen, Carl Van Der, DeLozier-Blanchet, Célia, Croquette, Marie-Françoise, Gilgenkrantz, Simone, Jalbert, Pierre, Voelckel, Marie-Antoinette, Oberlé, Isabelle, Mandel, Jean-Louis

“…THE fragile X syndrome is the most common cause of inherited mental retardation and one of the most frequent genetic diseases. It is estimated to cause one…”
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