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

Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone

杜氏肌营养不良症的肾上腺抑制:包含新型类固醇Vamorolone的治疗策略

Sbrocchi, Anne Marie; Kinnett, Kathi; Lautatzis, Maria-Elena; McMillan, Hugh J; Selby, Kathryn A; Veerapandiyan, Aravind; Weber, David R; Apkon, Susan; Bharucha-Goebel, Diana X; Bharill, Sonum; Bansal, Shipra; Clemens, Paula R; Fiscaletti, Melissa; Halloun, Rana; Lam, Carol; Merchant, Nadia; McAdam, Laura; Nasomyont, Nat; Nicolau, Stefan; Ochoa Molina, Maria F; Phung, Kim; Rutter, Meilan M; Scavina, Mena; Surampudi, Prasanth N; Tamaroff, Jaclyn; Tian, Cuixia; Ward, Leanne M; Wood, Claire L; Wong, Sze Choong; Ahmet, Alex

Current clinical applications of AAV-mediated gene therapy

目前AAV介导的基因治疗的临床应用

Byrne, Barry J; Flanigan, Kevin M; Matesanz, Susan E; Finkel, Richard S; Waldrop, Megan A; D'Ambrosio, Eleonora S; Johnson, Nicholas E; Smith, Barbara K; Bönnemann, Carsten; Carrig, Sean; Rossano, Joseph W; Greenberg, Barry; Lalaguna, Laura; Lara-Pezzi, Enrique; Subramony, Sub; Corti, Manuela; Mercado-Rodriguez, Claudia; Leon-Astudillo, Carmen; Ahrens-Nicklas, Rebecca; Bharucha-Goebel, Diana; Gao, Guangping; Gessler, Dominic J; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Boye, Sanford L; Boye, Shannon E; George, Lindsey A

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2

肌营养不良蛋白缺乏型肢带型肌营养不良症R2型临床结局研究中高密度脂蛋白相关胆固醇异常

White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations

脊髓性肌萎缩症最佳实践更新:治疗注意事项建议

Schroth, Mary K; Deans, Jennifer; Bharucha Goebel, Diana X; Burnette, W Bryan; Darras, Basil T; Elsheikh, Bakri H; Felker, Marcia V; Klein, Andrea; Krueger, Jena; Proud, Crystal M; Veerapandiyan, Aravindhan; Graham, Robert J

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN)

巨轴索神经病(GAN)中颈髓薄束的T2高信号

Armao, Diane; Bouldin, Thomas W; Bharucha-Goebel, Diana X; Hartman, Terry S; Gray, Steven J; Bailey, Rachel M; Saade, Dimah; Todd, Joshua J; Jain, Minal; Waite, Melissa; Bönnemann, Carsten G; Smith, J Keith

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

高剂量氟卡尼治疗先天性肌强直/新生儿严重阵发性喉痉挛(由SCN4A G1306E突变引起)的症状:病例报告

Ogueri, Vanessa; Chong, Jessica; Fleming, Melissa; Simpson, Kara; Sherwin, Elizabeth; Bharucha-Goebel, Diana; Spurney, Christopher

Intrathecal Gene Therapy for Giant Axonal Neuropathy

鞘内基因疗法治疗巨轴突神经病

Bharucha-Goebel, Diana X; Todd, Joshua J; Saade, Dimah; Norato, Gina; Jain, Minal; Lehky, Tanya; Bailey, Rachel M; Chichester, Jessica A; Calcedo, Roberto; Armao, Diane; Foley, A Reghan; Mohassel, Payam; Tesfaye, Eshetu; Carlin, Bradley P; Seremula, Beth; Waite, Melissa; Zein, Wadih M; Huryn, Laryssa A; Crawford, Thomas O; Sumner, Charlotte J; Hoke, Ahmet; Heiss, John D; Charnas, Lawrence; Hooper, Jody E; Bouldin, Thomas W; Kang, Elizabeth M; Rybin, Denis; Gray, Steven J; 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

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

HMGCR基因的双等位基因变异会导致常染色体隐性遗传的进行性肢带型肌营养不良症。

Morales-Rosado, Joel A; Schwab, Tanya L; Macklin-Mantia, Sarah K; Foley, A Reghan; Pinto E Vairo, Filippo; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A; Boyum, Grace E; Hu, Ying; Cong, Anh T Q; Lotze, Timothy E; Mohila, Carrie A; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R; Grunseich, Christopher; Bruels, Christine C; Littel, Hannah R; Estrella, Elicia A; Pais, Lynn; Kang, Peter B; Zimmermann, Michael T; Lupski, James R; Lee, Brendan; Schellenberg, Matthew J; Clark, Karl J; Wierenga, Klaas J; Bönnemann, Carsten G; Klee, Eric W

Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)

巨轴突性神经病变 (GAN) 中 KLHL16 突变的人类疾病模型中的星形胶质细胞中间丝失调

Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, Jasmine Robinson, Karina Kinghorn, J Ashley Ezzell, Diana Bharucha-Goebel, Carsten Bonnemann, Jody E Hooper, Puneet Opal, Thomas W Bouldin, Diane Armao, Natasha Snider