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

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

Gunasekaran Mekala, Littel Hannah R, Wells Natalya M, Turner Johnnie, Campos Gloriana, Venigalla Sree, Estrella Elicia A, Ghosh Partha S, Daugherty Audrey L, Stafki Seth A, Kunkel Louis M, Foley A Reghan, Donkervoort Sandra, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

BCS1L 相关疾病:5'-UTR 变异使表型向轴突神经病变转变。

Orbach Rotem, Maio Nunziata, Butterfield Russell J, Foley A Reghan, Silverstein Sarah, Li Yan, Chao Katherine, Lehky Tanya J, Potticary Abigail, Rouault Tracey A, Donkervoort Sandra, Bönnemann Carsten G

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

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study

针对患有 X 连锁肌管性肌病儿童的基因疗法:ASPIRO 研究出版物的通俗易懂的摘要

Shieh, Perry B; Hughes, Wendy; Wood, Marie; Beggs, Alan H; Lawlor, Michael W; Coats, Julie; Varfaj, Fatbardha; Graham, Robert J; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Buj Bello, Ana; Servais, Laurent; MacBean, Vicky; Muntoni, Francesco; Foley, A Reghan; Blaschek, Astrid; James, Emma S; Seferian, Andreea; Alfano, Lindsay N; Duong, Tina; Noursalehi, Mojtaba; Miller, Weston; Lee, Jun; Prasad, Suyash; Rico, Salvador

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

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial

Rycal S48168 (ARM210) 用于治疗 RYR1 相关肌病:一项 I 期、开放标签、剂量递增试验

Todd, Joshua J; Lawal, Tokunbor A; Chrismer, Irene C; Kokkinis, Angela; Grunseich, Christopher; Jain, Minal S; Waite, Melissa R; Biancavilla, Victoria; Pocock, Shavonne; Brooks, Kia; Mendoza, Christopher J; Norato, Gina; Cheung, Ken; Riekhof, Willa; Varma, Pooja; Colina-Prisco, Claudia; Emile-Backer, Magalie; Meilleur, Katherine G; Marks, Andrew R; Webb, Yael; Marcantonio, Eugene E; Foley, A Reghan; Bönnemann, Carsten G; Mohassel, Payam

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

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

复发性新生SPTLC2变异通过鞘脂合成过多导致儿童期发病的肌萎缩侧索硬化症(ALS)。

Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C Jr; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

SPTLC2基因中反复出现的新生功能获得性突变证实鞘脂生成失调是导致青少年肌萎缩侧索硬化症的原因。

Dohrn, Maike F; Beijer, Danique; Lone, Museer A; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C; Synofzik, Matthis; Bönnemann, Carsten G; Nazlı Başak, A; Hornemann, Thorsten; Zuchner, Stephan