Gene therapies in pediatrics
Andoni Urtizberea, J.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2023)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2023)
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Journal Article
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
Beijer, Danique, Deconinck, Tine, De Bleecker, Jan L, Dotti, Maria Teresa, Malandrini, Alessandro, Urtizberea, J Andoni, Zulaica, Miren, López de Munain, Adolfo, Asselbergh, Bob, De Jonghe, Peter, Baets, Jonathan
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
JOHNSON, Janel O, RAPHAEL GIBBS, J, REILLY, Mary M, MUNTONI, Francesco, ABRAMZON, Yevgeniya, HOULDEN, Henry, SINGLETON, Andrew B, MEGARBANE, Andre, ANDONI URTIZBEREA, J, HERNANDEZ, Dena G, REGHAN FOLEY, A, AREPALLI, Sampath, PANDRAUD, Amelie, SIMON-SANCHEZ, Javier, CLAYTON, Peter
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
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Journal Article
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
LeMerrer, Martine, Zasloff, Michael, Morhart, Rolf, Kaplan, Frederick S, Cho, Tae-Joon, Choi, In Ho, Glaser, David L, Connor, J Michael, Smith, Roger, Triffitt, James T, Shore, Eileen M, Urtizberea, J Andoni, Feldman, George J, Xu, Meiqi, Delai, Patricia, Rogers, John G, Fenstermacher, David A, Brown, Matthew A
Published in Nature genetics (01.05.2006)
Published in Nature genetics (01.05.2006)
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva, Irina T., Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, O'Grady, Gina, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Urtizberea, J. Andoni, Neto, Osorio Abath, Zanoteli, Edmar, Donkervoort, Sandra, Taylor, Juliet, Dixon, Joanne, Poke, Gemma, Foley, A. Reghan, Holmes, Chris, Williams, Glyn, Holder, Muriel, Yum, Sabrina, Medne, Livija, Quijano‐Roy, Susana, Romero, Norma B., Fauré, Julien, Feng, Lucy, Bastaki, Laila, Davis, Mark R., Phadke, Rahul, Sewry, Caroline A., Bönnemann, Carsten G., Jungbluth, Heinz, Bachmann, Christoph, Treves, Susan, Muntoni, Francesco
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Web Resource
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Sabbagh, Sandra, Mansour, Hicham, Chouery, Eliane, Hmaimess, Ghassan, Jabbour, Rosette, Mehawej, Cybel, Alame, Saada, Hani, Abeer, Hasbini, Dana, Ghanem, Ismat, Koussa, Salam, Al-Ali, Mahmoud Taleb, Obeid, Marc, Talea, Diana Bou, Lefranc, Gerard, Lévy, Nicolas, Leturcq, France, El Hayek, Stephany, Delague, Valérie, Urtizberea, J. Andoni
Published in Journal of neuromuscular diseases (01.01.2022)
Published in Journal of neuromuscular diseases (01.01.2022)
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Journal Article
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
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.
Published in Genes (16.06.2022)
Published in Genes (16.06.2022)
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Journal Article
233rd ENMC International Workshop
Lostal, William, Urtizberea, J. Andoni, Richard, Isabelle, Alonso-Jiménez, Alicia, Carlier, Robert-Yves, Carson, Vincent, Diaz-Manera, Jordi, Eymard, Bruno, Fardeau, Michel, Gourlay, Marie-Laurence, Guglieri, Michela, Hogrel, Jean-Yves, Kullmann, Bruno, Levy, Jennifer, Ono, Yasuko, Prigent, Hélène, Saenz, Amets, Semplicini, Claudio, Vainzof, Mariz, Vissing, John, Walter, Maggie
Published in Neuromuscular disorders : NMD (01.06.2018)
Published in Neuromuscular disorders : NMD (01.06.2018)
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Journal Article
Dysferlinopathy in Iran: Clinical and genetic report
Fatehi, Farzad, Nafissi, Shahriar, Urtizberea, J. Andoni, Blanck-Labelle, Véronique, Lévy, Nicolas, Krahn, Martin, Dbouk, Mohamad Baker, Attarian, Shahram
Published in Journal of the neurological sciences (15.12.2015)
Published in Journal of the neurological sciences (15.12.2015)
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Journal Article
CAPN3 mutations in patients with idiopathic eosinophilic myositis
Krahn, Martin, Lopez De Munain, Adolfo, Streichenberger, Nathalie, Bernard, Rafaëlle, Pécheux, Christophe, Testard, Hervé, Pena-Segura, José L., Yoldi, Eugenia, Cabello, Ana, Romero, Norma B., Poza, Juan J., Bouillot-Eimer, Sandrine, Ferrer, Xavier, Goicoechea, Maria, Garcia-Bragado, Federico, Leturcq, France, Urtizberea, J. Andoni, Lévy, Nicolas
Published in Annals of neurology (01.06.2006)
Published in Annals of neurology (01.06.2006)
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Journal Article
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
CLARKE, Nigel F, MAUGENRE, Svetlana, ENDO, Tamao, CHOUERY, Eliane, CAMPBELL, Kevin P, MEGARBANE, André, GUICHENEY, Pascale, VANDEBROUCK, Aurélie, URTIZBEREA, J. Antoni, WILLER, Tobias, PEAT, Rachel A, GRAY, Prançoise, BOUCHET, Céline, MANYA, Hiroshi, VUILLAUMIER-BARROT, Sandrine
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Journal Article
Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011
Attarian, S., Salort-Campana, E., Nguyen, K., Behin, A., Andoni Urtizberea, J.
Published in Revue neurologique (01.12.2012)
Published in Revue neurologique (01.12.2012)
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Journal Article
A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy
Allamand, Valérie, Richard, Pascale, Lescure, Alain, Ledeuil, Céline, Desjardin, Delphine, Petit, Nathalie, Gartioux, Corine, Ferreiro, Ana, Krol, Alain, Pellegrini, Nadine, Urtizberea, J Andoni, Guicheney, Pascale
Published in EMBO reports (01.04.2006)
Published in EMBO reports (01.04.2006)
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Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy
Funalot, Benoît, Topilko, Piotr, Arroyo, Maria Antonia Ramos, Sefiani, Abdelaziz, Hedley-Whyte, E. Tessa, Yoldi, Maria E., Richard, Laurence, Touraille, Estelle, Laurichesse, Mathieu, Khalifa, Emmanuel, Chauzeix, Jasmine, Ouedraogo, Adama, Cros, Didier, Magdelaine, Corinne, Sturtz, Franck G., Urtizberea, J. Andoni, Charnay, Patrick, Bragado, Federico Garcia, Vallat, Jean-Michel
Published in Annals of neurology (01.05.2012)
Published in Annals of neurology (01.05.2012)
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Journal Article
Dysferlinopathies
Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas
Published in Neurology India (01.07.2008)
Published in Neurology India (01.07.2008)
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Journal Article
High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation
BÉCANE, HENRI-MARC, BONNE, GISÈLE, VARNOUS, SHAIDA, MUCHIR, ANTOINE, ORTEGA, VÉRONIQUE, HAMMOUDA, EL HADI, URTIZBEREA, J-ANDONI, LAVERGNE, THOMAS, FARDEAU, MICHEL, EYMARD, BRUNO, WEBER, SIMON, SCHWARTZ, KETTY, DUBOC, DENIS
Published in Pacing and clinical electrophysiology (01.11.2000)
Published in Pacing and clinical electrophysiology (01.11.2000)
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The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy: A case series
Villar-Quiles, Rocio N, von der Hagen, Maja, Métay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lütschg, Jürg, Malfatti, Edoardo, Mayer, Michèle, Merlini, Luciano, Orlikowski, David, Reuner, Ulrike, Salih, Mustafa A, Schlotter-Weigel, Beate, Stoetter, Mechthild, Straub, Volker, Topaloglu, Haluk, Urtizberea, J Andoni, van der Kooi, Anneke, Wilichowski, Ekkehard, Romero, Norma B, Fardeau, Michel, Bönnemann, Carsten G, Estournet, Brigitte, Richard, Pascale, Quijano-Roy, Susana, Schara, Ulrike, Ferreiro, Ana
Published in Neurology (15.09.2020)
Published in Neurology (15.09.2020)
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Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey
Díaz-Manera, Jordi, Urtizberea, J. Andoni, Schey, Carina, Kole, Anna, von Gallwitz, Philipp, Whiting, Amy, Foerster, Douglas, Zozulya-Weidenfeller, Alla
Published in Neuromuscular disorders : NMD (01.02.2023)
Published in Neuromuscular disorders : NMD (01.02.2023)
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