Works by Biancalana, Valérie

Results: 35

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

Published in:

2018

By:

Biancalana, Valérie;
Romero, Norma B.;
Thuestad, Inger Johanne;
Ignatius, Jaakko;
Kataja, Janne;
Gardberg, Maria;
Héron, Delphine;
Malfatti, Edoardo;
Oldfors, Anders;
Laporte, Jocelyn

Publication type:

Letter

X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 4, p. 447

By:

Hortobágyi, Tibor;
Szab&#x00F3, Hajnalka;
Kovács, Krisztián S.;
Bódi, István;
Bereg, Edit;
Katona, Márta;
Biancalana, Valérie;
Túri, Sándor;
Sztriha, László

Publication type:

Article

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Published in:

2017

By:

Lornage, Xavière;
Malfatti, Edoardo;
Chéraud, Chrystel;
Schneider, Raphaël;
Biancalana, Valérie;
Cuisset, Jean‐Marie;
Garibaldi, Matteo;
Eymard, Bruno;
Fardeau, Michel;
Boland, Anne;
Deleuze, Jean‐François;
Thompson, Julie;
Carlier, Robert‐Yves;
Böhm, Johann;
Romero, Norma B.;
Laporte, Jocelyn

Publication type:

journal article

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 803, doi. 10.1002/jimd.12087

By:

Echaniz‐Laguna, Andoni;
Nadjar, Yann;
Béhin, Anthony;
Biancalana, Valérie;
Piraud, Monique;
Malfatti, Edoardo;
Laforêt, Pascal

Publication type:

Article

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 17, doi. 10.1002/humu.23899

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

Publication type:

Article

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Published in:

Acta Neuropathologica, 2017, v. 134, n. 6, p. 889, doi. 10.1007/s00401-017-1748-0

By:

Biancalana, Valérie;
Scheidecker, Sophie;
Miguet, Marguerite;
Laquerrière, Annie;
Romero, Norma;
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

Publication type:

Article

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

Published in:

Acta Neuropathologica, 2017, v. 134, n. 1, p. 163, doi. 10.1007/s00401-017-1724-8

By:

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

Publication type:

Article

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Published in:

Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1

By:

Biancalana, Valérie;
Caron, Olivier;
Gallati, Sabina;
Baas, Frank;
Kress, Wolfram;
Novelli, Giuseppe;
D'Apice, Maria;
Lagier-Tourenne, Clotilde;
Buj-Bello, Anna;
Romero, Norma B.;
Mandel, Jean-Louis

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1134, doi. 10.1038/ng2086

By:

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

Publication type:

Article

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

Published in:

Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01882-0

By:

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

Publication type:

Article

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

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3160, doi. 10.1093/brain/awu272

By:

Böhm, Johann;
Biancalana, Valérie;
Malfatti, Edoardo;
Dondaine, Nicolas;
Koch, Catherine;
Vasli, Nasim;
Kress, Wolfram;
Strittmatter, Matthias;
Taratuto, Ana Lia;
Gonorazky, Hernan;
Laforêt, Pascal;
Maisonobe, Thierry;
Olivé, Montse;
Gonzalez-Mera, Laura;
Fardeau, Michel;
Carrière, Nathalie;
Clavelou, Pierre;
Eymard, Bruno;
Bitoun, Marc;
Rendu, John

Publication type:

Article

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

Published in:

2010

By:

Friedrich, Anne;
Garnier, Nicolas;
Gagnière, Nicolas;
Nguyen, Hoan;
Albou, Laurent-Philippe;
Biancalana, Valérie;
Bettler, Emmanuel;
Deléage, Gilbert;
Lecompte, Odile;
Muller, Jean;
Moras, Dino;
Mandel, Jean-Louis;
Toursel, Thierry;
Moulinier, Luc;
Poch, Olivier

Publication type:

Other

MTM1 mutations in X-linked myotubular myopathy.

Published in:

Human Mutation, 2000, v. 15, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R

By:

Laporte, Jocelyn;
Biancalana, Valérie;
Tanner, Stephan M.;
Kress, Wolfram;
Schneider, Vreni;
Wallgren-Pettersson, Carina;
Herger, Franziska;
Buj-Bello, Anna;
Blondeau, François;
Liechti-Gallati, Sabina;
Mandel, Jean-Louis

Publication type:

Article

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 320, doi. 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

By:

Buj-Bello, Anna;
Biancalana, Valérie;
Moutou, Céline;
Laporte, Jocelyn;
Mandel, Jean-Louis

Publication type:

Article

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Published in:

Acta Neuropathologica, 2012, v. 124, n. 2, p. 273, doi. 10.1007/s00401-012-0982-8

By:

Vasli, Nasim;
Böhm, Johann;
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

Publication type:

Article

Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.

Published in:

Acta Neuropathologica, 2004, v. 108, n. 1, p. 81, doi. 10.1007/s00401-004-0855-x

By:

Seilhean, Danielle;
Takahashi, Junko;
El Hachimi, Khalid Hamid;
Fujigasaki, Hiroto;
Lebre, Anne-Sophie;
Biancalana, Valérie;
Dürr, Alexandra;
Salachas, François;
Hogenhuis, Jean;
de Thé, Hugues;
Hauw, Jean-Jacques;
Meininger, Vincent;
Brice, Alexis;
Duyckaerts, Charles

Publication type:

Article

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

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01400-0

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

Publication type:

Article

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y

By:

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

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8506, doi. 10.3390/ijms23158506

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

Publication type:

Article

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Published in:

Brain & Behavior, 2013, v. 3, n. 4, p. 476, doi. 10.1002/brb3.147

By:

Shichiji, Minobu;
Biancalana, Valérie;
Fardeau, Michel;
Hogrel, Jean-Yves;
Osawa, Makiko;
Laporte, Jocelyn;
Romero, Norma Beatriz

Publication type:

Article

A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 234, doi. 10.1111/cge.13974

By:

Puma, Angela;
Ezaru, Andra;
Cavalli, Michele;
Villa, Luisa;
Torre, Federico;
Biancalana, Valérie;
Levade, Thierry;
Grecu, Nicolae;
Sacconi, Sabrina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 417, doi. 10.1038/ejhg.2014.185

By:

Biancalana, Valérie;
Glaeser, Dieter;
McQuaid, Shirley;
Steinbach, Peter

Publication type:

Article

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.91

By:

Biancalana, Valérie;
Beggs, Alan H;
Das, Soma;
Jungbluth, Heinz;
Kress, Wolfram;
Nishino, Ichizo;
North, Kathryn;
Romero, Norma B;
Laporte, Jocelyn

Publication type:

Article

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 701, doi. 10.1038/ejhg.2011.256

By:

Vasli, Nasim;
Laugel, Vincent;
Böhm, Johann;
Lannes, Béatrice;
Biancalana, Valérie;
Laporte, Jocelyn

Publication type:

Article

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.55

By:

Jacquemont, Sebastien;
Birnbaum, Stefanie;
Redler, Silke;
Steinbach, Peter;
Biancalana, Valérie

Publication type:

Article

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.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134

By:

Flori, Elisabeth;
Biancalana, Valérie;
Girard-Lemaire, Françoise;
Favre, Romain;
Flori, Jean;
Doray, Bérénice;
Mandel, Jean Louis

Publication type:

Article

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 5, p. 355, doi. 10.1038/sj.ejhg.5200635

By:

Vincent, Marie C;
Biancalana, Valérie;
Ginisty, Danièle;
Mandel, Jean L;
Calvas, Patrick

Publication type:

Article

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

Published in:

Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0781-8

By:

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

Publication type:

Article

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

Published in:

Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0

By:

de Feraudy, Yvan;
Vandroux, Marie;
Romero, Norma Beatriz;
Schneider, Raphaël;
Saker, Safaa;
Boland, Anne;
Deleuze, Jean-François;
Biancalana, Valérie;
Böhm, Johann;
Laporte, Jocelyn

Publication type:

Article

Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110888

By:

Neto, Osorio Abath;
Tassy, Olivier;
Biancalana, Valérie;
Zanoteli, Edmar;
Pourquié, Olivier;
Laporte, Jocelyn

Publication type:

Article

An Integrated Diagnosis Strategy for Congenital Myopathies.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067527

By:

Böhm, Johann;
Vasli, Nasim;
Malfatti, Edoardo;
Le Gras, Stéphanie;
Feger, Claire;
Jost, Bernard;
Monnier, Nicole;
Brocard, Julie;
Karasoy, Hatice;
Gérard, Marion;
Walter, Maggie C.;
Reilich, Peter;
Biancalana, Valérie;
Kretz, Christine;
Messaddeq, Nadia;
Marty, Isabelle;
Lunardi, Joël;
Romero, Norma B.;
Laporte, Jocelyn

Publication type:

Article

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

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 33, doi. 10.1007/s10048-020-00632-3

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

Publication type:

Article

Transition from Premutation to Full Mutation in Fragile X Syndrome is Likely to be Prezygotic.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 971, doi. 10.1093/hmg/6.7.971

By:

Moutou, Céline;
Vincent, Marie-Claire;
Biancalana, Valérie;
Mandel, Jean-Louis

Publication type:

Article

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785

By:

Cossée, Mireille;
Faivre, Laurence;
Philippe, Christophe;
Hichri, Heifa;
de Saint-Martin, Anne;
Laugel, Vincent;
Bahi-Buisson, Nadia;
Lemaitre, Jean-François;
Leheup, Bruno;
Delobel, Bruno;
Demeer, Bénédicte;
Poirier, Karine;
Biancalana, Valérie;
Pinoit, Jean-Michel;
Julia, Sophie;
Chelly, Jamel;
Devys, Didier;
Mandel, Jean-Louis

Publication type:

Article

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Published in:

2017

By:

Abath Neto, Osorio;
Heise, Carlos Otto;
Moreno, Cristiane de Araújo Martins;
Estephan, Eduardo de Paula;
Mesrob, Lilia;
Lechner, Doris;
Boland, Anne;
Deleuze, Jean-François;
Oliveira, Acary Souza Bulle;
Reed, Umbertina Conti;
Biancalana, Valérie;
Laporte, Jocelyn;
Zanoteli, Edmar

Publication type:

Case Study