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

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

Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype

MYH7 变异体震颤表型的电生理特征

Vial, Felipe; McGurrin, Patrick; Osterholt, Thomas; Ehrlich, Debra J; Iannacone, Susan T; Donkervoort, Sandra; Neuhaus, Sarah B; Chao, Katherine C; Bönnemann, Carsten G; Haubenberger, Dietrich; Hallett, Mark

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

VWA1 基因中 10 bp 的祖先重复序列扩增导致隐性遗传性运动神经病

Pagnamenta Alistair T, Kaiyrzhanov Rauan, Zou Yaqun, Da'as Sahar I, Maroofian Reza, Donkervoort Sandra, Dominik Natalia, Lauffer Marlen, Ferla Matteo P, Orioli Andrea, Giess Adam, Tucci Arianna, Beetz Christian, Sedghi Maryam, Ansari Behnaz, Barresi Rita, Basiri Keivan, Cortese Andrea, Elgar Greg, Fernandez-Garcia Miguel A, Yip Janice, Foley A Reghan, Gutowski Nicholas, Jungbluth Heinz, Lassche Saskia, Lavin Tim, Marcelis Carlo, Marks Peter, Marini-Bettolo Chiara, Medne Livija, Moslemi Ali-Reza, Sarkozy Anna, Reilly Mary M, Muntoni Francesco, Millan Francisca, Muraresku Colleen C, Need Anna C, Nemeth Andrea H, Neuhaus Sarah B, Norwood Fiona, O'Donnell Marie, O'Driscoll Mary, Rankin Julia, Yum Sabrina W, Zolkipli-Cunningham Zarazuela, Brusius Isabell, Wunderlich Gilbert, Karakaya Mert, Wirth Brunhilde, Fakhro Khalid A, Tajsharghi Homa, Bönnemann Carsten G, Taylor Jenny C, Houlden Henry