日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey

神经肌肉疾病患者从儿童期到成年期的过渡:ERN EURO-NMD调查结果

Evangelista, Teresinha; Ali, Houda; Handberg, Charlotte; Sejersen, Thomas; Quinlivan, Ros; Moroni, Isabella; Masingue, Marion; Quijano-Roy, Susana; Atalaia, Antonio; Schara-Schmidt, Ulrike; Claeys, Kristl G

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

FLT3L 调控人类和小鼠中部分重叠的造血谱系的发育

Mana Momenilandi,Romain Lévy,Steicy Sobrino,Jingwei Li,Chantal Lagresle-Peyrou,Hossein Esmaeilzadeh,Antoine Fayand,Corentin Le Floc'h,Antoine Guérin,Erika Della Mina,Debra Shearer,Ottavia M Delmonte,Ahmad Yatim,Kevin Mulder,Mathieu Mancini,Darawan Rinchai,Adeline Denis,Anna-Lena Neehus,Karla Balogh,Sarah Brendle,Hassan Rokni-Zadeh,Majid Changi-Ashtiani,Yoann Seeleuthner,Caroline Deswarte,Boris Bessot,Cassandre Cremades,Marie Materna,Axel Cederholm,Masato Ogishi,Quentin Philippot,Omer Beganovic,Mania Ackermann,Margareta Wuyts,Taushif Khan,Sébastien Fouéré,Florian Herms,Johan Chanal,Boaz Palterer,Julie Bruneau,Thierry J Molina,Stéphanie Leclerc-Mercier,Jean-Luc Prétet,Leila Youssefian,Hassan Vahidnezhad,Nima Parvaneh,Kristl G Claeys,Rik Schrijvers,Marine Luka,Philippe Pérot,Jacques Fourgeaud,Céline Nourrisson,Philippe Poirier,Emmanuelle Jouanguy,Stéphanie Boisson-Dupuis,Jacinta Bustamante,Luigi D Notarangelo,Neil Christensen,Nils Landegren,Laurent Abel,Nico Marr,Emmanuelle Six,David Langlais,Tim Waterboer,Florent Ginhoux,Cindy S Ma,Stuart G Tangye,Isabelle Meyts,Nico Lachmann,Jiafen Hu,Mohammad Shahrooei,Xavier Bossuyt,Jean-Laurent Casanova,Vivien Béziat

Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

抗Ku抗体阳性肌炎:一种获得性炎症性蛋白聚集体肌病

Holzer, Marie-Therese; Uruha, Akinori; Roos, Andreas; Hentschel, Andreas; Schänzer, Anne; Weis, Joachim; Claeys, Kristl G; Schoser, Benedikt; Montagnese, Federica; Goebel, Hans-Hilmar; Huber, Melanie; Léonard-Louis, Sarah; Kötter, Ina; Streichenberger, Nathalie; Gallay, Laure; Benveniste, Olivier; Schneider, Udo; Preusse, Corinna; Krusche, Martin; Stenzel, Werner

Test-retest reliability and follow-up of muscle magnetic resonance elastography in adults with and without muscle diseases

肌肉磁共振弹性成像在有无肌肉疾病的成年人中的重测信度及随访研究

De Wel, Bram; Huysmans, Lotte; Peeters, Ronald; Ghysels, Stefan; Byloos, Kris; Putzeys, Guido; Maes, Frederik; Dupont, Patrick; Claeys, Kristl G

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale

改善晚发型庞贝病结局指标:改良的Rasch构建庞贝特异性活动量表

van Kooten, Harmke A; Horton, Mike C; Wenninger, Stephan; Babačić, Haris; Schoser, Benedikt; Lefeuvre, Claire; Taouagh, Najib; Laforêt, Pascal; Segovia, Sonia; Díaz-Manera, Jordi; Claeys, Kristl G; Mongini, Tiziana; Musumeci, Olimpia; Toscano, Antonio; Hundsberger, Thomas; Brusse, Esther; van Doorn, Pieter A; van der Ploeg, Ans T; van der Beek, Nadine A M E

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

EURO-NMD 注册库:基于 FAIR 原则的联合基础设施、创新技术和以患者为中心的罕见神经肌肉疾病注册库理念

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, François; Plançon, 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