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

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

CIAO1 功能丧失会导致神经肌肉疾病,并损害核质 Fe-S 酶

Nunziata Maio, Rotem Orbach, Irina T Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot, Juliane Mueller, Tracey Willis, Sumit Verma, Stojan Peric, Deepa Krishnakumar, Sniya Sudhakar, A Reghan Foley, Sarah Silverstein, Ganka Douglas, Lynn Pais, Stephanie DiTroia, Christopher Grunseich, Ying Hu, Ca

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

使用 resamirigene bilparvovec (AT132) 进行基因替代疗法对 X 连锁肌管性肌病骨骼肌病理的影响:来自 ASPIRO 开放标签临床试验子研究的结果

Michael W Lawlor, Benedikt Schoser, Marta Margeta, Caroline A Sewry, Karra A Jones, Perry B Shieh, Nancy L Kuntz, Barbara K Smith, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Andreea M Seferian, Astrid Blaschek, Sarah Neuhaus, A Reghan Foley, Dimah N Saade, Etsuko Tsuchiya, Ummulwa

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

剪接改变型双等位基因 DES 变异体的临床、免疫组织化学和遗传学特征:治疗意义

Janelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A Reghan Foley, Payam Mohassel, Carsten G Bönnemann

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

DTNA 变异会导致轻度显性遗传性肌营养不良症

Andres Nascimento #, Christine C Bruels #, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Exp

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

HNRNPA2B1基因的杂合移码变异会导致早发性眼咽肌营养不良症

Hong Joo Kim # ,Payam Mohassel # ,Sandra Donkervoort ,Lin Guo ,Kevin O'Donovan ,Maura Coughlin ,Xaviere Lornage ,Nicola Foulds ,Simon R Hammans ,A Reghan Foley ,Charlotte M Fare ,Alice F Ford ,Masashi Ogasawara ,Aki Sato ,Aritoshi Iida ,Pinki Munot ,Gautam Ambegaonkar ,Rahul Phadke ,Dominic G O'Donovan ,Rebecca Buchert ,Mona Grimmel ,Ana Töpf ,Irina T Zaharieva ,Lauren Brady ,Ying Hu ,Thomas E Lloyd ,Andrea Klein ,Maja Steinlin ,Alice Kuster ,Sandra Mercier ,Pascale Marcorelles ,Yann Péréon ,Emmanuelle Fleurence ,Adnan Manzur ,Sarah Ennis ,Rosanna Upstill-Goddard ,Luca Bello ,Cinzia Bertolin ,Elena Pegoraro ,Leonardo Salviati ,Courtney E French ,Andriy Shatillo ,F Lucy Raymond ,Tobias B Haack ,Susana Quijano-Roy ,Johann Böhm ,Isabelle Nelson ,Tanya Stojkovic ,Teresinha Evangelista ,Volker Straub ,Norma B Romero ,Jocelyn Laporte ,Francesco Muntoni ,Ichizo Nishino ,Mark A Tarnopolsky ,James Shorter ,Carsten G Bönnemann ,J Paul Taylor

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

患有 SMCHD1 变异的 Arhinia 患者的横断面神经肌肉表型研究

Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G Konersman, Angela M Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K Wade Foster, A Reghan Foley, Steven A Moore, Peter L Jones, 

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

鞘脂合成过量导致的儿童肌萎缩侧索硬化症

Payam Mohassel, Sandra Donkervoort #, Museer A Lone #, Matthew Nalls #, Kenneth Gable #, Sita D Gupta #, A Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R Nickolls, Naemeh Pourshafie, Sarah B N

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

MLIP 可导致隐性肌病,并伴有横纹肌溶解症、肌痛和血清肌酸激酶基线升高

Osorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, Maria Elena Rodríguez-García, Véronique Bolduc, Ying Hu, Eleonora Guadagnin, A Reghan Foley, John F Brandsema, Allan M Glanzman, Gihan I Tennekoon, Mariarita Santi, Justin H Berger, Lynn A Megeney, Hirofumi Komaki, Michio Inoue, Francisco Ja

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