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

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

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

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

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

反复出现的纯合ACTN2变异(p.Arg506Gly)会导致隐性遗传性肌病。

Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A; Dyment, David A; Sampson, Jacinda B; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A Reghan; Mammen, Andrew L; Wheeler, Matthew T; O'Donnell-Luria, Anne; 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

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G