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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Author / Creator: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.
Publisher:London: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-07, Vol.10 (1), p.1-101, Article 101
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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
Author / Creator:Biancalana, Valérie ; Glaeser, Dieter ; McQuaid, Shirley ; Steinbach, Peter
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.417-425
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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Author / Creator:de Feraudy, Yvan ; Vandroux, Marie ; Romero, Norma Beatriz ; Schneider, Raphaël ; Saker, Safaa ; Boland, Anne ; Deleuze, Jean-François ; Biancalana, Valérie ; Böhm, Johann ; Laporte, Jocelyn
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-07, Vol.16 (1), p.87-15, Article 87
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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
Author / Creator:Lornage, Xavière ; Mallaret, Martial ; Silva-Rojas, Roberto ; Biancalana, Valérie ; Giovannini, Diane ; Dieterich, Klaus ; Saker, Safaa ; Deleuze, Jean-François ; Wuyam, Bernard ; Laporte, Jocelyn ; Böhm, Johann
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2021-03, Vol.22 (1), p.33-41
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Next generation sequencing for molecular diagnosis of neuromuscular diseases
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2012-08, Vol.124 (2), p.273-283
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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2024-12, Vol.12 (1), p.191-12, Article 191
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
Author / Creator: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
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1991-12, Vol.325 (24), p.1673-1681
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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Author / Creator:Nicot, Anne-Sophie ; Toussaint, Anne ; Tosch, Valérie ; Kretz, Christine ; Wallgren-Pettersson, Carina ; Iwarsson, Erik ; Kingston, Helen ; Garnier, Jean-Marie ; Biancalana, Valérie ; Oldfors, Anders ; Mandel, Jean-Louis ; Laporte, Jocelyn
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-09, Vol.39 (9), p.1134-1139
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.349-352
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Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies
Author / Creator:Neto, Osorio Abath ; Tassy, Olivier ; Biancalana, Valérie ; Zanoteli, Edmar ; Pourquié, Olivier ; Laporte, Jocelyn
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014, Vol.9 (10), p.e110888-e110888
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HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2017-07, Vol.134 (1), p.163-165
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Author / Creator: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
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-08, Vol.23 (15), p.8506
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Author / Creator:Lornage, Xavière ; Schartner, Vanessa ; Balbueno, Inès ; Biancalana, Valérie ; Willis, Tracey ; Echaniz-Laguna, Andoni ; Scheidecker, Sophie ; Quinlivan, Ros ; Fardeau, Michel ; Malfatti, Edoardo ; Lannes, Béatrice ; Sewry, Caroline ; Romero, Norma B. ; Laporte, Jocelyn ; Böhm, Johann
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2019-08, Vol.7 (1), p.138-138, Article 138
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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Author / Creator:Biancalana, Valérie ; Romero, Norma B. ; Thuestad, Inger Johanne ; Ignatius, Jaakko ; Kataja, Janne ; Gardberg, Maria ; Héron, Delphine ; Malfatti, Edoardo ; Oldfors, Anders ; Laporte, Jocelyn
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2018-09, Vol.6 (1), p.93-93, Article 93
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“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2009-03, Vol.117 (3), p.283-291
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An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
Author / Creator:Juntas Morales, Raul ; Perrin, Aurélien ; Solé, Guilhem ; Lacourt, Delphine ; Pegeot, Henri ; Walther-Louvier, Ulrike ; Cintas, Pascal ; Cances, Claude ; Espil, Caroline ; Theze, Corinne ; Zenagui, Reda ; Yauy, Kevin ; Cosset, Elodie ; Renard, Dimitri ; Rigau, Valerie ; Maues de Paula, Andre ; Uro-Coste, Emmanuelle ; Arne-Bes, Marie-Christine ; Martin Négrier, Marie-Laure ; Leboucq, Nicolas ; Acket, Blandine ; Malfatti, Edoardo ; Biancalana, Valérie ; Metay, Corinne ; Richard, Pascale ; Rendu, John ; Rivier, François ; Koenig, Michel ; Cossée, Mireille
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-07, Vol.12 (8), p.1199
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Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes
Author / Creator:Flori, Elisabeth ; Biancalana, Valérie ; Girard-Lemaire, Françoise ; Favre, Romain ; Flori, Jean ; Doray, Bérénice ; Louis Mandel, Jean
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.181-186
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Homozygous C-terminal loss-of-function Na V 1.4 variant in a patient with congenital myasthenic syndrome
Author / Creator:Echaniz-Laguna, Andoni ; Biancalana, Valérie ; Nadaj-Pakleza, Aleksandra ; Fournier, Emmanuel ; Matthews, Emma ; Hanna, Michael G ; Männikkö, Roope
Publisher:England
Journal title:Journal of neurology, neurosurgery and psychiatry, 2020-08, Vol.91 (8), p.898-900
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Clinical utility gene card for: Centronuclear and myotubular myopathies
Author / Creator:Biancalana, Valérie ; Beggs, Alan H ; Das, Soma ; Jungbluth, Heinz ; Kress, Wolfram ; Nishino, Ichizo ; North, Kathryn ; Romero, Norma B ; Laporte, Jocelyn
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1101-1101
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

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Next generation sequencing for molecular diagnosis of neuromuscular diseases

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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

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

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Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

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HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

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Clinical, histological, and genetic characterization of PYROXD1-related myopathy

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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

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“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

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An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

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Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

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Homozygous C-terminal loss-of-function Na V 1.4 variant in a patient with congenital myasthenic syndrome

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Clinical utility gene card for: Centronuclear and myotubular myopathies

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