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

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

奥米加匹治疗 LAMA2 或 COL6 相关肌营养不良症患者的 1 期开放标签研究

Foley, A Reghan; Yun, Pomi; Leach, Meganne E; Neuhaus, Sarah B; Averion, Gilberto V; Hu, Ying; Hayes, Leslie H; Donkervoort, Sandra; Jain, Minal S; Waite, Melissa; Parks, Rebecca; Bharucha-Goebel, Diana X; Mayer, Oscar H; Zou, Yaqun; Fink, Margaret; DeCoster, Jameice; Mendoza, Christopher; Arévalo, Cynthia; Hausmann, Rudolf; Petraki, Diana; Cheung, Ken; Bönnemann, Carsten G

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy

对FHL1相关还原体肌病骨骼肌成像的综合研究

Mohassel, Payam; Yun, Pomi; Syeda, Safoora; Batra, Abhinandan; Bradley, Andrew J; Donkervoort, Sandra; Monges, Soledad; Cohen, Julie S; Leung, Doris G; Munell, Francina; Ortez, Carlos; Sánchez-Montáñez, Angel; Karachunski, Peter; Brandsema, John; Medne, Livija; Chaudhry, Vinay; Tasca, Giorgio; Foley, A Reghan; Udd, Bjarne; Arai, Andrew E; Walter, Glenn A; Bönnemann, Carsten G

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

初始最大运动能力与COL6相关营养不良患者长期功能预后的相关性

Natera-de Benito, Daniel; Foley, A Reghan; Domínguez-González, Cristina; Ortez, Carlos; Jain, Minal; Mebrahtu, Aron; Donkervoort, Sandra; Hu, Ying; Fink, Margaret; Yun, Pomi; Ogata, Tracy; Medina, Julita; Vigo, Meritxell; Meilleur, Katherine G; Leach, Meganne E; Dastgir, Jahannaz; Díaz-Manera, Jordi; Carrera-García, Laura; Expósito-Escudero, Jessica; Alarcon, Macarena; Cuadras, Daniel; Montiel-Morillo, Elena; Milisenda, José C; Dominguez-Rubio, Raul; Olivé, Montse; Colomer, Jaume; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Bönnemann, Carsten G; Nascimento, Andres

International retrospective natural history study of LMNA-related congenital muscular dystrophy

LMNA相关先天性肌营养不良症的国际回顾性自然史研究

Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M; Gómez-Andrés, David; Reghan Foley, A; Quijano-Roy, Susana; Bönnemann, Carsten G; Bonne, Gisèle

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

COL6相关肌营养不良症和杜氏肌营养不良症的中间型和贝特勒姆肌病型下肢肌肉受累情况:一项横断面研究

Batra, Abhinandan; Lott, Donovan J; Willcocks, Rebecca; Forbes, Sean C; Triplett, William; Dastgir, Jahannaz; Yun, Pomi; Reghan Foley, A; Bönnemann, Carsten G; Vandenborne, Krista; Walter, Glenn A

Hypoglycemia in patients with congenital muscle disease

先天性肌肉疾病患者的低血糖症

Hayes, Leslie H; Yun, Pomi; Mohassel, Payam; Norato, Gina; Donkervoort, Sandra; Leach, Meganne E; Alvarez, Rachel; Rutkowski, Anne; Shaw, Natalie D; Foley, A Reghan; Bönnemann, Carsten G

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping

成人MTM1相关肌病携带者:基于深度表型的分类

Cocanougher, Benjamin T; Flynn, Lauren; Yun, Pomi; Jain, Minal; Waite, Melissa; Vasavada, Ruhi; Wittenbach, Jason D; de Chastonay, Sabine; Chhibber, Sameer; Innes, A Micheil; MacLaren, Linda; Mozaffar, Tahseen; Arai, Andrew E; Donkervoort, Sandra; Bönnemann, Carsten G; Foley, A Reghan

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation

HSP和耳聋:由一种新型嵌合型SOX10突变引起的神经嵴病

Donkervoort, Sandra; Bharucha-Goebel, Diana; Yun, Pomi; Hu, Ying; Mohassel, Payam; Hoke, Ahmet; Zein, Wadih M; Ezzo, Daniel; Atherton, Andrea M; Modrcin, Ann C; Dasouki, Majed; Foley, A Reghan; Bönnemann, Carsten G