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J

Journal of Neuromuscular Diseases

IF3.4
论文数746
被引数1948
期刊论文 746
发表时间
Caregivers perspectives on multidisciplinary clinic visits for Duchenne and Becker muscular dystrophy照护者对杜氏和贝克氏肌营养不良多学科诊所就诊的看法
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PREAI
deleteCade Haynie; Ruthwik Duvuru; Chary Akmyradov; Tiffany Boyd; Ellen Wagner; Rachel Schrader; Vikki Stefans; Erin Willis; Aravindhan Veerapandiyan
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Exploring the gut microbiome in children and young adults with myotonic dystrophy type 1探索1型肌强直性营养不良儿童和年轻人的肠道微生物组
delete2026-10-26
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PREAI
deleteAnne M. van Uden; Heidi Zweers; Alejandro Arias Vasquez; Derick G. Wansink; Peter A. C. ’t Hoen; Alem Gusinac; Anja de Baaij-Daalmeyer; Karlijn Gerrits; Willem J. G. Melchers; Baziel van Engelen; Thomas H. A. Ederveen; Hilde M. H. Braakman
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RYR1 -related diseases patient-led international research workshop: Novel perspectives, treatments and interventionsRYR1相关疾病患者主导的国际研究研讨会:新视角、治疗和干预措施
delete2026-10-21
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PREAI
deletePomi Yun; Lourdes Figueroa; Chang Seok Lee; Filip Van Petegem; Nicol C. Voermans; Robert T. Dirksen; Michael F. Goldberg; Līvija Medne; Jinson Paul; Mairéad Ryan; Emily Pedersen; Johanna Lanner; Payam Mohassel
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Machine learning predicts treatment response to nusinersen in non-sitter spinal muscular atrophy (SMA)机器学习预测nusinersen对非坐姿型脊髓性肌萎缩症(SMA)的治疗反应
delete2026-10-20
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PREAI
deleteGeorgia Stimpson; Emer O’Reilly; Giorgia Coratti; Deborah Ridout; Tapabrata Chakraborti; Robin Mitra; Roberto de Sanctis; Marika Pane; Mariacristina Scoto; Eugenio Mercuri; Francesco Muntoni; Giovanni Baranello;
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Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy脑脊液和/或血清中的神经丝蛋白作为儿童脊髓性肌萎缩症的可能生物标志物
delete2026-10-17
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PREAI
deleteMarkéta Kumhera; Eva Vrsčaj; Tanja Loboda; Damjan Osredkar; Petra Holotová; Marie Rohlenová; Barbora Lauerová; Vanesa Jurášová; Jitka Hanzalová; Markéta Pavlíková; Jana Haberlová
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Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions管理杜氏肌营养不良症患者生长和青春期问题的更新指南及未来方向
delete2026-10-10
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PREAI
deleteMeilan M. Rutter; Janet L. Crane; Funmbi Babalola; Robert W. Benjamin; Carol Lam; Laura McAdam; Stefan Nicolau; Anne Marie Sbrocchi; Mena Scavina; Julia Sorbara; Alexandra Ahmet; Susan Apkon; Chiara Arpaia; Tommaso Aversa; Shipra Bansal; Luca Bello; Diana X. Bharucha-Goebel; Sabrina Corbetta; Natascia Di Iorgi; Ryan Farrell; Alberto Ferlin; Danilo Fintini; Melissa Fiscaletti; Rana Halloun; Maria-Elena Lautatzis; Hugh J. McMillan; Nadia Merchant; Patrick Moeschen; Nat Nasomyont; Maria Fernanda Ochoa Molina; Chiara Panicucci; Nora E. Renthal; Luisa De Sanctis; Jaclyn Tamaroff; Cuixia Tian; Aravindhan Veerapandiyan; Leanne M. Ward; David R. Weber; Sze Choong Wong; Ilaria Zito; Claire L. Wood
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Combined qualitative and quantitative MRI reveals short-term progression in facioscapulohumeral muscular dystrophy结合定性定量MRI揭示面肩肱型肌营养不良的短期进展
delete2026-10-09
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PREAI
deleteAnna-Lena Mayer; Anika Starke; Valentina Schunk; Matthias Türk; Michael Uder; Arnd Dörfler; Armin M. Nagel; Pierre-Yves Baudin; Elisabetta Gazzerro; Teresa Gerhalter
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An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participationRYR1相关疾病国际患者调查:患者对参与临床试验的观点
delete2026-09-29
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PREAI
deleteLizan Stinissen; Sanne A.J.H. van de Camp; Brentney Simon; Lindsay Goldberg; Baziel G.M. van Engelen; Kirsten E. Bevelander; Wija Oortwijn; Nicol C. Voermans;
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Adrenal insufficiency in individuals with Duchenne muscular dystrophy treated with glucocorticoids: Insights from the past, current challenges, and future directionsglucocorticoids治疗的患者中肾上腺功能不全:来自过去的见解、当前挑战和未来方向
delete2026-09-22
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PREAI
deleteDavid R. Weber; Alexandra Ahmet; Kathi Kinnett; Maria-Elena Lautatzis; Hugh J. McMillan; Susan Apkon; Shipra Bansal; Robert W. Benjamin; Paula R. Clemens; Janet L. Crane; Melissa Fiscaletti; Carol Lam; Laura McAdam; Meilan M. Rutter; Nadia Merchant; Nat Nasomyont; Stefan Nicolau; Kim Phung; Nora Renthal; Mena Scavina; Julia Sorbara; Jaclyn Tamaroff; Cuixia Tian; Claire Wood; Tommaso Aversa; Luca Bello; Sabrina Corbetta; Francesca Cumbo; Luisa De Sanctis; Natascia Di Iorgi; Alberto Ferlin; Danilo Fintini; Eugenio Maria Mercuri; Chiara Panicucci; Gianluca Tornese; Rachel Schrader; Kathryn A. Selby; Aravindhan Veerapandiyan; Sze Choong Wong; Leanne M. Ward; Anne Marie Sbrocchi
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Delving into the clinical and genetic spectrum of NLSDM: A case study深入探讨NLSDM的临床和遗传谱:一个病例研究
delete2026-09-21
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PREAI
deleteDaniela Tavian; Barbara Risi; Laura Moro; Elena M. Pennisi; Alessandro Padovani; Corrado Angelini; Sara Missaglia; Massimiliano Filosto
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Cramps as the initial presentation of CANVAS/RFC1-related disorder肌痉挛作为CANVAS/RFC1相关疾病的初始表现
delete2026-09-18
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PREAI
deleteJoaquín Machado; Jocelyn Zwicker; Pierre R. Bourque; Hanns Lochmüller; Jodi Warman-Chardon; Alberto Aleman; Fien Oelbrandt; Ari Breiner
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X-linked myotubular myopathy, liver disease, and gene therapyX连锁肌管肌病、肝脏疾病和基因治疗
delete2026-09-09
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PREAI
deleteEmanuela Pannia; Sophie Karolczak; Rachel Stine; James J. Dowling
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Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome肌病与死亡率之间:PLOD1相关驼背性埃勒斯-当洛斯综合征的诊断挑战
delete2026-08-29
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PREAI
deleteKatharina Vill; Theresa Brunet; Melanie Brugger; Matias Wagner; Matthias Baumann; Ulrich Schatz; Astrid Pechmann; Iris Hannibal; Moritz Tacke; Cecilia Giunta; Walter Wohlgemuth; Moritz Wildgruber; Wolfgang Müller-Felber; Astrid Blaschek; Marianne Rohrbach; Veronika Huf
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Total body and appendicular lean mass by dual-energy X-ray absorptiometry are highly associated with muscle function and bone mineral density in Becker muscular dystrophy双能X射线吸收法测定的全身及附肢去脂体重与贝克肌营养不良患者的肌肉功能和骨矿物质密度高度相关
delete2026-08-28
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PREAI
deleteRana Halloun; Stefan Jackowski; Maya Scharke; Utkarsh J. Dang; Fahd Alshammri; Jinhui Ma; Ken Gaither; Thomas Fuerst; Hugh J. McMillan; Kerry Siminoski; James MacDougall; Joanne Donovan; Leanne M. Ward
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