A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

od 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
Izdano 2006

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

od 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.
Izdano 2000

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

od Clarke, Nigel F, Maugenre, Svetlana, Vandebrouck, Aurélie, Urtizberea, J Andoni, Willer, Tobias, Peat, Rachel A, Gray, Françoise, Bouchet, Céline, Manya, Hiroshi, Vuillaumier-Barrot, Sandrine, Endo, Tamao, Chouery, Eliane, Campbell, Kevin P, Mégarbané, André, Guicheney, Pascale
Izdano 2011

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

od Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.
Izdano 2012

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

od Pelin, Katarina, Hilpelä, 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
Izdano 1999

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

od 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
Izdano u Neurology (2020)

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

od Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Izdano 2014