TUMORES FILOIDES DE LA MAMA. EXPERIENCIA DE 2 AÑOS: PHYLLODES OF BREAST TUMORS. 2 YEARS OF EXPERIENCE von Berni, Rodrigo, Notario, Aida, Duarte, José, Palácios, Juan, De Bleecker, Anna

Volltext

PHYLLODES OF BREAST TUMORS. 2 YEARS OF EXPERIENCE von Berni, Rodrigo, Aida, Notario, Duarte, José, Palácios, Juan, De Bleecker, Anna

Volltext

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort von de Bruyn, Alexander, Montagnese, Federica, Holm-Yildiz, Sonja, Scharff Poulsen, Nanna, Stojkovic, Tanya, Behin, Anthony, Palmio, Johanna, Jokela, Manu, De Bleecker, Jan L, de Visser, Marianne, van der Kooi, Anneke J, ten Dam, Leroy, Domínguez González, Cristina, Maggi, Lorenzo, Gallone, Annamaria, Kostera-Pruszczyk, Anna, Macias, Anna, Łusakowska, Anna, Nedkova, Velina, Olive, Montse, Álvarez-Velasco, Rodrigo, Wanschitz, Julia, Paradas, Carmen, Mavillard, Fabiola, Querin, Giorgia, Fernández-Eulate, Gorka, Quinlivan, Ros, Walter, Maggie C, Depuydt, Christophe E, Udd, Bjarne, Vissing, John, Schoser, Benedikt, Claeys, Kristl G

Volltext

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy von Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi

Volltext

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations von Sakornsakolpat, Phuwanat, Prokopenko, Dmitry, Lamontagne, Maxime, Reeve, Nicola F., Guyatt, Anna L., Jackson, Victoria E., Shrine, Nick, Qiao, Dandi, Bartz, Traci M., Kim, Deog Kyeom, Lee, Mi Kyeong, Latourelle, Jeanne C., Li, Xingnan, Morrow, Jarrett D., Obeidat, Ma’en, Wyss, Annah B., Bakke, Per, Barr, R. Graham, Beaty, Terri H., Belinsky, Steven A., Brusselle, Guy G., Crapo, James D., de Jong, Kim, DeMeo, Dawn L., Fingerlin, Tasha E., Gharib, Sina A., Gulsvik, Amund, Hall, Ian P., Hokanson, John E., Kim, Woo Jin, Lomas, David A., London, Stephanie J., Meyers, Deborah A., O’Connor, George T., Rennard, Stephen I., Schwartz, David A., Sliwinski, Pawel, Sparrow, David, Strachan, David P., Tal-Singer, Ruth, Tesfaigzi, Yohannes, Vestbo, Jørgen, Vonk, Judith M., Yim, Jae-Joon, Zhou, Xiaobo, Bossé, Yohan, Manichaikul, Ani, Lahousse, Lies, Silverman, Edwin K., Boezen, H. Marike, Wain, Louise V., Tobin, Martin D., Hobbs, Brian D., Cho, Michael H.

Volltext

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy von Evilä, Anni, Palmio, Johanna, Vihola, Anna, Savarese, Marco, Tasca, Giorgio, Penttilä, Sini, Lehtinen, Sara, Jonson, Per Harald, De Bleecker, Jan, Rainer, Peter, Auer-Grumbach, Michaela, Pouget, Jean, Salort-Campana, Emmanuelle, Vilchez, Juan J., Muelas, Nuria, Olive, Montse, Hackman, Peter, Udd, Bjarne

Volltext

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort von de Bruyn, Alexander, Montagnese, Federica, Holm-Yildiz, Sonja, Poulsen, Nanna Scharff, Stojkovic, Tanya, Behin, Anthony, Palmio, Johanna, Jokela, Manu, De Bleecker, Jan L, de Visser, Marianne, van der Kooi, Anneke J, ten Dam, Leroy, Gonzalez, Cristina Dominguez, Maggi, Lorenzo, Gallone, Annamaria, Kostera-Pruszczyk, Anna, Macias, Anna, Lusakowska, Anna, Nedkova, Velina, Olive, Montse, Alvarez-Velasco, Rodrigo, Wanschitz, Julia, Paradas, Carmen, Mavillard, Fabiola, Querin, Giorgia, Fernandez-Eulate, Gorka, Quinlivan, Ros, Walter, Maggie C, Depuydt, Christophe E, Udd, Bjarne, Vissing, John, Schoser, Benedikt, Claeys, Kristl G

Volltext

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders von Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M, Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo

Volltext

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients von Giugliano, Teresa, Savarese, Marco, Garofalo, Arcomaria, Picillo, Esther, Fiorillo, Chiara, D'Amico, Adele, Maggi, Lorenzo, Ruggiero, Lucia, Vercelli, Liliana, Magri, Francesca, Fattori, Fabiana, Torella, Annalaura, Ergoli, Manuela, Rubegni, Anna, Fanin, Marina, Musumeci, Olimpia, Bleecker, Jan De, Peverelli, Lorenzo, Moggio, Maurizio, Mercuri, Eugenio, Toscano, Antonio, Mora, Marina, Santoro, Lucio, Mongini, Tiziana, Bertini, Enrico, Bruno, Claudio, Minetti, Carlo, Comi, Giacomo Pietro, Santorelli, Filippo Maria, Angelini, Corrado, Politano, Luisa, Piluso, Giulio, Nigro, Vincenzo

Volltext

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study von Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocio Nur, Caballero-Avila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Sgobbi Souza, Paulo Victor, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jimenez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olive, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Dominguez-Gonzalez, Cristina, Papadimas, George K, Warman, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, Garcia-Garcia, Jorge, Pal, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi

Volltext

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy von Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-Ávila, Marta, Chou, Tsui-Fen, Li, Shan, Wang, Feng, Daw, Jil, Stojkovic, Tanya, Villar-Quiles, Rocio, Nishino, Ichizo, Inoue, Michio, Nishimori, Yukako, Saito, Yoshihiko, Katsuno, Masahisa, Noda, Seiya, Ito, Chihiro, Otsuka, Mieko, Nahir, Sruthi, Manousakis, Georgios, Walk, David, Quinn, Colin, Alfano, Lindsay, Sahenk, Zarife, Tasca, Giorgio, Monforte, Mauro, Sabatelli, Mario, Bisogni, Giulia, Oldfors, Anders, Rydeliu, Anna, Pal, Endre, Paradas, Carmen, Velez, Beatriz, De Bleecker, Jan L, Farugia, Maria Elena, Longman, Cheryl, Harms, Matthew B, Ralston, Stuart, Zanoteli, Edmar, Macedo Serafim da Silva, Andre, Sotoca, Javier, Juntas-Morales, Raul, Bevilacqua, Jorge, Balart, Mireya, Talbot, Stuart, Straub, Volker, Guglieri, Michela, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Weihl, Conrad Chris

Volltext

How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases? von Batcho, Charles Sèbiyo, Van den Bergh, Peter Y.K, Van Damme, Philip, Roy, Anna J, Thonnard, Jean-Louis, Penta, Massimo

Volltext

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients von Alonso-Pérez, Jorge, Semplicini, Claudio, González-Quereda, Lidia, Guglieri, Michela, Straub, Volker, Gallano Petit, Pia, Pegoraro, Elena, Nascimento Osorio, Andrés, Ortez Gonzalez, Carlos Ignacio, Comi, Giacomo, de Visser, Marianne, van Der Kooi, A.J., Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuss, Andrea, Løkken, Nicoline, Vissing, John, Schoser, Benedikt, Udd, Bjarne, d'Amico, Adele, Politano, Luisa, Bruno, Claudio, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl, Gomez-Andrés, David, Munell, Francina, Haberlová, Jana, Elke, de Vos, de Bleecker, Jan, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain Arregui, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi

Volltext

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy von Alonso-Perez, Jorge, Gonzalez-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andres, Ortez, Carlos, Comi, Giacomo Pietro, ten Dam, Leroy, De Visser, Marianne, van der Kooi, A.J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuss, Andrea, Lokken, Nicoline, Storgaard, Glesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonsolimenez, Alicia, Claeys, Kristl G, Gomez-Andres, David, Munell, Francina, Costa-Comellas, Laura, Haberlova, Jana, Rohlenova, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-Gonzalez, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernandez-Torron, Roberto, de Munain, Adolfo Lopez, Camacho-Salas, Ana, Melegh, Bela, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, De Leon-Hernandez, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Diaz-Manera, Jordi

Volltext

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) von Roy, Anna J., Van den Bergh, Peter, Van Damme, Philip, Doggen, Kris, Van Casteren, Viviane

Volltext

Rare genetic variants explain missing heritability in smoking von Jang, Seon-Kyeong, Evans, Luke, Fialkowski, Allison, Arnett, Donna K., Ashley-Koch, Allison E., Barnes, Kathleen C., Becker, Diane M., Bis, Joshua C., Blangero, John, Bleecker, Eugene R., Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Jenkins, Brenda W. Campbell, Carson, April P., Chavan, Sameer, Cupples, L. Adrienne, Custer, Brian, Damrauer, Scott M., David, Sean P., de Andrade, Mariza, Dinardo, Carla L., Fingerlin, Tasha E., Fornage, Myriam, Freedman, Barry I., Garrett, Melanie E., Gharib, Sina A., Glahn, David C., Haessler, Jeffrey, Heckbert, Susan R., Hokanson, John E., Hou, Lifang, Hwang, Shih-Jen, Hyman, Matthew C., Judy, Renae, Justice, Anne E., Kaplan, Robert C., Kardia, Sharon L. R., Kelly, Shannon, Kim, Wonji, Kooperberg, Charles, Levy, Daniel, Lloyd-Jones, Donald M., Loos, Ruth J. F., Manichaikul, Ani W., Gladwin, Mark T., Martin, Lisa Warsinger, Nouraie, Mehdi, Melander, Olle, Meyers, Deborah A., Montgomery, Courtney G., North, Kari E., Oelsner, Elizabeth C., Palmer, Nicholette D., Payton, Marinelle, Peljto, Anna L., Peyser, Patricia A., Preuss, Michael, Psaty, Bruce M., Qiao, Dandi, Rader, Daniel J., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alexander P., Rich, Stephen S., Rotter, Jerome I., Schwartz, David A., Shadyab, Aladdin H., Silverman, Edwin K., Smith, Nicholas L., Smith, J. Gustav, Smith, Albert V., Smith, Jennifer A., Tang, Weihong, Taylor, Kent D., Telen, Marilyn J., Vasan, Ramachandran S., Gordeuk, Victor R., Wang, Zhe, Wiggins, Kerri L., Yanek, Lisa R., Yang, Ivana V., Young, Kendra A., Young, Kristin L., Zhang, Yingze, Liu, Dajiang J., Keller, Matthew C., Vrieze, Scott

Volltext

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) von Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R, Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, 3rd, Manuel B, Roda, Ricardo H, Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C

Volltext

Effect of genetic modifiers on cerebral lesions in Fabry disease von Hemelsoet, Dimitri M, Vantilborgh, Anna, De Bleecker, Jan L

Volltext

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) von Roy, Anna J, Van den Bergh, Peter, Van Damme, Philip, Doggen, Kris, Van Casteren, Viviane, BNMDR Scientific Committee, the, De Bleecker, Jan, Van Coster, Rudy

Volltext

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) von Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R, Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B, Roda, Ricardo H, Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C

Volltext