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

af 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
Udgivet 2013

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

af 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
Udgivet i PLoS One (2018)

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

af 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
Udgivet 2011

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

af 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
Udgivet i Neurology (2018)

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

af 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.
Udgivet 2014

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

af 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
Udgivet 2011