Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

nork Sivera, Rafael, Sevilla, Teresa, Vílchez, Juan Jesús, Martínez-Rubio, Dolores, Chumillas, María José, Vázquez, Juan Francisco, Muelas, Nuria, Bataller, Luis, Millán, José María, Palau, Fancesc, Espinós, Carmen
Argitaratua 2013

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

nork Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia
Argitaratua izan da PLoS One (2018)

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

nork Hicks, Debbie, Sarkozy, Anna, Muelas, Nuria, Köehler, Katrin, Huebner, Angela, Hudson, Gavin, Chinnery, Patrick F., Barresi, Rita, Eagle, Michelle, Polvikoski, Tuomo, Bailey, Geraldine, Miller, James, Radunovic, Aleksander, Hughes, Paul J., Roberts, Richard, Krause, Sabine, Walter, Maggie C., Laval, Steven H., Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Argitaratua 2011

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

nork Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Argitaratua izan da Neurology (2018)

NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY

nork Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.
Argitaratua 2014

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

nork Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Argitaratua 2011