Search Results - "Urtizberea, Andoni J"

Gene therapies in pediatrics by Andoni Urtizberea, J.

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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy by 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

“…Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower…”
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease by 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

“…Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in…”
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A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva by 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

“…Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We…”
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility by 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

“…SH3 and cysteine‐rich domain‐containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation–contraction coupling (ECC) machinery,…”
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort by 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

“…Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce. This study aims to…”
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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population by 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.

“…Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of…”
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Dysferlinopathy in Iran: Clinical and genetic report by Fatehi, Farzad, Nafissi, Shahriar, Urtizberea, J. Andoni, Blanck-Labelle, Véronique, Lévy, Nicolas, Krahn, Martin, Dbouk, Mohamad Baker, Attarian, Shahram

“…Abstract Background Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of…”
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233rd ENMC International Workshop by 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

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CAPN3 mutations in patients with idiopathic eosinophilic myositis by 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

“…Objective Eosinophilic myositis (EM) constitutes a rare pathological entity characterized by eosinophilic infiltration of skeletal muscles, usually associated…”
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Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011 by Attarian, S., Salort-Campana, E., Nguyen, K., Behin, A., Andoni Urtizberea, J.

“…Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and…”
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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene by 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

“…Mutation of the LARGE gene is the rarest of the six known genetic causes of α-dystroglycanopathy. We report further a family with MDC1D due to a complex…”
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A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy by 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

“…Mutations in the SEPN1 gene encoding the selenoprotein N (SelN) have been described in different congenital myopathies. Here, we report the first mutation in…”
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Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy by 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

“…The transcription factor EGR2 is expressed in Schwann cells, where it controls peripheral nerve myelination. Mutations of EGR2 have been found in patients with…”
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Dysferlinopathies by Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas

“…Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive…”
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Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1 by Brignol, Tuy Nga, Urtizberea, J. Andoni

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High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation by 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

“…BÉCANE, H.–M., et al.: High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation. We studied 54 living…”
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The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series by 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

“…To clarify the prevalence, long-term natural history, and severity determinants of -related myopathy (SEPN1-RM), we analyzed a large international case series…”
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Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey by Díaz-Manera, Jordi, Urtizberea, J. Andoni, Schey, Carina, Kole, Anna, von Gallwitz, Philipp, Whiting, Amy, Foerster, Douglas, Zozulya-Weidenfeller, Alla

“…•MyoPath explores European patients’ views of the impact of mexiletine on myotonia.•Findings confirm the harm to myotonia patients if mexiletine access is…”
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The Frozen Man and the Chinese Alphabet by Urtizberea, J Andoni, Kaplan, Jean-Claude

“…The Confucian philosophy teaches us that the search for truth does not always follow a straight line. The clinical observation presented here illustrates this…”
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