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Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Monceau, Alexandra; Nath, Rasya Gokul; Suarez-Calvet, Xavier; Musumeci, Olimpia; Toscano, Antonio; Kierdaszuk, Biruta; Kostera-Pruszczyk, Anna; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Paradas, Carmen; Rivas, Eloy; Papadimas, George; Papadopoulos, Constantinos; Chrysanthou-Piterou, Margarita; Gallardo, Eduard; Olive, Montse; Lilleker, James; Roberts, Mark E.; Marchese, Domenica; Lunazzi, Giulia; Heyn, Holger; Fernandez-Simon, Esther; Villalobos, Elisa; Clark, James; Katsikis, Panos; Collins, Catherine; Mehra, Priyanka; Laidler, Zoe; Vincent, Amy; Tasca, Giorgio; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Raben, Nina; Diaz-Manera, Jordi 分享 收藏
The Iberian Roma Population Variant Server (IRPVS) Mavillard, Fabiola; Perez-Florido, Javier; Ortuno, Francisco M.; Valladares, Amador; Alvarez-Villegas, Miren L.; Roldan, Gema; Carmona, Rosario; Soriano, Manuel; Susarte, Santiago; Fuentes, Pilar; Lopez-Lopez, Daniel; Nunez-Negrillo, Ana Maria; Carvajal, Alejandra; Morgado, Yolanda; Arteaga, Daniel; Ufano, Rosa; Mir, Pablo; Gamella, Juan F.; Dopazo, Joaquin; Paradas, Carmen; Cabrera-Serrano, Macarena 分享 收藏
A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity Buvoli, Massimo; Wilson, Genevieve C. K.; Buvoli, Ada; Gugel, Jack F.; Hau, Abbi; Bonnemann, Carsten G.; Paradas, Carmen; Ryba, David M.; Woulfe, Kathleen C.; Walker, Lori A.; Buvoli, Tommaso; Ochala, Julien; Leinwand, Leslie A. 分享 收藏
Clinical and Genetic Analysis of Patients With TK2 Deficiency Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blazquez, Alberto; Quesada-Espinosa, Juan F.; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; Garcia-Arumi, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galan-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquin; Carracedo, Angel; Marti, Ramon; Martin, Miguel A.; Dominguez-Gonzalez, Cristina 分享 收藏
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders Euro-nmd注册表: 联邦公平基础设施，创新技术和以患者为中心的罕见神经肌肉疾病注册表的概念 Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A. C.; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, Francois; Plancon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G. J.; de Visser, Marianne; Claeys, Kristl G.; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D.; Lochmuller, Hanns; Evangelista, Teresinha 分享 收藏
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy Schiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Avila, 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; da Silva, Andre Macedo Serafim; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris 分享 收藏
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies ( vol 9, e20079, 2023) 在2项病例对照研究中，累积遗传评分和C9orf72重复状态独立地影响肌萎缩性侧索硬化症的风险 (第9卷，e20079，2023) Dou, John; Bakulski, Kelly; Guo, Kai; Hur, Junguk; Zhao, Lili; Saez-Atienzar, Sara; Stark, Ali; Chia, Ruth; Garcia-Redondo, Alberto; Rojas-Garcia, Ricardo; Costa, Juan Francisco Vazquez; Santiago, Ruben Fernandez; Bandres-Ciga, Sara; Gomez-Garre, Pilar; Perinan, Maria Teresa; Mir, Pablo; Perez-Tur, Jordi; Cardona, Fernando; Menendez-Gonzalez, Manuel; Riancho, Javier; Borrego-Hernandez, Daniel; Galan-Davila, Lucia; Ceberio, Jon Infante; Pastor, Pau; Paradas, Carmen; Dols-Icardo, Oriol; Traynor, Bryan J.; Feldman, Eva L.; Goutman, Stephen A. 分享 收藏
Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche Ortiz-Vitali, Jose L.; Wu, Jianbo; Xu, Nasa; Shieh, Annie W.; Niknejad, Nima; Takeuchi, Megumi; Paradas, Carmen; Lin, Chunru; Jafar-Nejad, Hamed; Haltiwanger, Robert S.; Wang, Sidney H.; Darabi, Radbod 分享 收藏
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies 在2项病例对照研究中，累积遗传评分和C9orf72重复状态独立影响肌萎缩性侧索硬化症的风险 Dou, John; Bakulski, Kelly; Guo, Kai; Hur, Junguk; Zhao, Lili; Saez-Atienzar, Sara; Stark, Ali; Chia, Ruth; Garcia-Redondo, Alberto; Rojas-Garcia, Ricardo; Costa, Juan Francisco Vazquez; Santiago, Ruben Fernandez; Bandres-Ciga, Sara; Gomez-Garre, Pilar; Perinan, Maria Teresa; Mir, Pablo; Perez-Tur, Jordi; Cardona, Fernando; Menendez-Gonzalez, Manuel; Riancho, Javier; Borrego-Hernandez, Daniel; Galan-Davila, Lucia; Ceberio, Jon Infante; Pastor, Pau; Paradas, Carmen; Dols-Icardo, Oriol; Traynor, Bryan J.; Feldman, Eva L.; Goutman, Stephen A. 分享 收藏
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy Mavillard, Fabiola; Servian-Morilla, Emilia; Dofash, Lein; Rojas-Marcos, Inigo; Folland, Chiara; Monahan, Gavin; Gutierrez-Gutierrez, Gerardo; Rivas, Eloy; Hernandez-Lain, Aurelio; Valladares, Amador; Cantero, Gloria; Morales, Jose M.; Laing, Nigel G.; Paradas, Carmen; Ravenscroft, Gianina; Cabrera-Serrano, Macarena 分享 收藏
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort 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. 分享 收藏
Water T2 could predict functional decline in patients with dysferlinopathy Moore, Ursula; Araujo, Ericky Caldas de Almeida; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Blamire, Andrew M.; Straub, Volker; Carlier, Pierre G.; Diaz-Manera, Jordi 分享 收藏
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study 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 分享 收藏
BNIP3 is involved in muscle fiber atrophy in late-onset Pompe disease patients Diaz-Manera, Jordi; Carrasco, Ana; Fernandez-Simon, Esther; Suarez-Calvet, Xavier; Pinol-Jurado, Patricia; Alonso-Perez, Jorge; Schoser, Benedikt; Dominguez-Gonzalez, Cristina; Paradas, Carmen; Gallardo, Eduard 分享 收藏
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