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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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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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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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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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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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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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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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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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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Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia
Canki-Klain, Nina, Milic, Astrid, Kovac, Biserka, Trlaja, Anuska, Grgicevic, Damir, Zurak, Niko, Fardeau, Michel, Leturcq, France, Kaplan, Jean-Claude, Urtizberea, J. Andoni, Politano, Luisa, Piluso, Giulio, Feingold, Josue
Published in American journal of medical genetics. Part A (01.03.2004)
Published in American journal of medical genetics. Part A (01.03.2004)
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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Hammouda, Hadi, Nicole, Sophie, Topaloglu, Haluk, Weissenbach, Jean, Lehmann-Horn, Franck, Samson, Delphine, Cruaud, Corinne, Hentati, Faycal, Davoine, Claire-Sophie, Beighton, Peter, Barral, Duarte, Fontaine, Bertrand, Urtizberea, J. Andoni, White, Peter S, Cattolico, Laurence, Hamida, Christiane Ben
Published in Nature genetics (01.12.2000)
Published in Nature genetics (01.12.2000)
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Clinical and pathological features in 15 Chinese patients with calpainopathy
Luo, Su-Shan, Xi, Jian-Ying, Lu, Jia-Hong, Zhao, Chong-Bo, Zhu, Wen-Hua, Lin, Jie, Wang, Yin, Ren, Hui-Min, Yin, Bo, Andoni, Urtizberea J.
Published in Muscle & nerve (01.03.2011)
Published in Muscle & nerve (01.03.2011)
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Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
Pelin, Katarina, Hilpela, Pirta, Donner, Kati, Sewry, Caroline, Akkari, Patrick A., Wilton, Stephen D., Wattanasirichaigoon, Duangrurdee, Bang, Marie-Louise, Centner, Thomas, Hanefeld, Folker, Odent, Sylvie, Fardeau, Michel, Urtizberea, J. Andoni, Muntoni, Francesco, Dubowitz, Victor, Beggs, Alan H., Laing, Nigel G., Labeit, Siegfried, de la Chapelle, Albert, Wallgren-Pettersson, Carina
Published in Proceedings of the National Academy of Sciences - PNAS (02.03.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (02.03.1999)
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Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect
Delague, Valérie, Chouery, Eliane, Corbani, Sandra, Ghanem, Ismat, Aamar, Suhail, Fischer, Judith, Levy-Lahad, Ephrat, Urtizberea, J. Andoni, Mégarbané, André
Published in American journal of medical genetics. Part A (01.10.2005)
Published in American journal of medical genetics. Part A (01.10.2005)
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Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31
Feldman, George, Li, Ming, Martin, Shelden, Urbanek, Margrit, Urtizberea, J. Andoni, Fardeau, Michel, LeMerrer, Martine, Connor, J. Michael, Triffitt, James, Smith, Roger, Muenke, Maximilian, Kaplan, Frederick S., Shore, Eileen M.
Published in American journal of human genetics (01.01.2000)
Published in American journal of human genetics (01.01.2000)
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A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
Dinçer, P, Leturcq, F, Richard, I, Piccolo, F, Yalnizoglu, D, de Toma, C, Akçören, Z, Broux, O, Deburgrave, N, Brenguier, L, Roudaut, C, Urtizberea, J A, Jung, D, Tan, E, Jeanpierre, M, Campbell, K P, Kaplan, J C, Beckmann, J S, Topaloglu, H
Published in Annals of neurology (01.08.1997)
Published in Annals of neurology (01.08.1997)
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