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Neuromuscular Disorders 封面图

Neuromuscular Disorders

IF2.8
论文数233
被引数6305
期刊论文 233
发表时间
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Caregiver Perspectives on Duchenne Muscular Dystrophy: Identifying Barriers in Care杜氏肌营养不良症照护者视角：识别照护障碍
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IF2.8
delete2026-10-27
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PREAI
deleteMichelle T. Tram; Stella Deng
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Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America关于ADSS1肌病的第二届临床与科学会议会议报告。2025年10月24日，美国马萨诸塞州布鲁克林波士顿儿童医院
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IF2.8
delete2026-10-26
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deleteEmma Rybalka; Cara A. Timpani; Naveen Baweja; Priyanka Kakkar
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295th ENMC International Workshop: Harmonizing Clinical Monitoring in FSHD: Clinical Outcome Measures, Patient Perspectives, and Digital Innovations for the Upcoming Era of Drug Therapies. Hoofddorp, The Netherlands, 1–3 May 2026第295届ENMC国际研讨会：协调FSHD的临床监测：临床结局指标、患者视角以及为即将到来的药物疗法时代带来的数字创新。荷兰霍夫多普，2026年5月1日至3日
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IF2.8
delete2026-10-25
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PREAI
deleteEnrico Bugiardini; Hannes Erdmann; Lilli Schuckert; Kate Eichinger; Benedikt Schoser
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Non-Invasive Assessment of Microvascular Changes in a Duchenne Muscular Dystrophy Rat Model with Near-Infrared Spectroscopy近红外光谱技术对杜氏肌营养不良大鼠模型微血管变化的非侵入性评估
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IF2.8
delete2026-10-24
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deleteMargarita Egiian; Rasa Eskandari; Susan Tyler; Mamadou Diop; Lisa Hoffman
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Juvenile Dermatomyositis Across Diagnostic Eras: Treatment Evolution and Long-Term Outcomes in a 25-Year Cohort儿童皮肌炎在不同诊断时期的演变：25年队列的治疗进展和长期预后
deleteNeuromuscular Disorders
IF2.8
delete2026-10-21
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PREAI
deleteMehmet Orhan Erkan; Hulya Ercan Emreol; Mehmet Besrek; Yagmur Bayindir; Sibel Öz Yıldız; Veysel Cam; Dilara Unal; Ozlem Necipoglu Banak; Hazel Delal Dara Kar; Sule Ozkan; Beril Talim; Adalet Elcin Yildiz; Ozge Basaran; Yelda Bilginer; Göknur Haliloğlu; Seza Ozen; Erdal Sag
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Pathogen Identification by Shotgun Metagenomics in Inflammatory Myopathies: A Prospective Observational Study Reporting the First European Case of Anncaliia algerae Myositis通过宏基因组鸟枪法鉴定炎症性肌病中的病原体：一项前瞻性观察研究，报道首例欧洲Anncaliia algerae肌炎病例
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IF2.8
delete2026-10-17
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PREAI
deleteAndrei-Valentin Brîncuș; Cécile Angebault; Nadège Wesner; Sarah Leonard-Louis; Alexandre Le Joncour; Camille Blandin; Pascal Richette; Philippe Poirier; Olivier Benveniste; Christophe Rodriguez; Françoise Botterel; Yves Allenbach
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Interindividual variability of muscle involvement on imaging in a family with FLNC c.577G>A (p.A193T)-related myopathy携带FLNC c.577G>A (p.A193T)相关肌病的家族中肌肉受累在影像学上的个体间差异性
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IF2.8
delete2026-10-16
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PREAI
deleteWakako Yoshioka; Satoru Noguchi; Hotake Takizawa; Rui Shimazaki; Kayoko Eguchi; Yuji Takahashi; Shinichiro Hayashi; Ichizo Nishino
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A late-onset slowly progressive dystrophic–myasthenic phenotype expands the clinical spectrum of TOR1AIP1-related disease迟发型缓慢进展的营养不良性-肌无力性表型扩展了TOR1AIP1相关疾病的临床谱
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IF2.8
delete2026-10-14
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PREAI
deleteCarolina Cunha; Danilo Alves; Luís Ferreira; Rui André; Olinda Rebelo; Ana Novo; Luciano Almendra; Inês Carvalho; Argemiro Geraldo; Anabela Matos
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Dual Ultrasound Detection of Facial Muscle Changes in FSHD1: Thickness and Echo Intensity Findings - A Cross-Sectional Comparison with Healthy AdultsFSHD1面部肌肉变化的超声双检测：厚度和回声强度结果——与健康成人的横断面比较
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IF2.8
delete2026-10-13
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PREAI
deleteHavvanur Albayrak; Ahmet Peker; Gulshan Yunisova; Ayse Nur Ozdag Acarlı; Aysegul Ketenci; Piraye Oflazer
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Validation of Non-Instrumental Clinical Outcome Assessments for Dysphagia in OPMD: A Structured, COSMIN-Guided AssessmentOPMD吞咽困难非仪器临床结局评估的验证：一项结构化、COSMIN指导的评估
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IF2.8
delete2026-10-10
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PREAI
deleteClaudia Côté; Hanns Lochmüller; Bernard Brais; Xavier Rodrigue; Jean-Denis Brisson; Cynthia Gagnon
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Twenty years of givinostat in Duchenne muscular dystrophy: a patient-organisation perspective二十年来givinostat在杜氏肌营养不良症中的应用：患者组织的视角
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IF2.8
delete2026-10-05
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PREAI
deleteFilippo Buccella; Patricia Furlong
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Erratum to “Expression of genetic peripheral neuropathies in South African children” [Neuromuscular Disorders, 59 (2026): 106283]勘误：“南非儿童遗传性周围神经病的表达” [神经肌肉疾病, 59 (2026): 106283]
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IF2.8
delete2026-09-30
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PREAI
deleteSharika V Raga; Gwendoline Q Kandawasvika; Alvin Ndondo; Michael G Hanna; Mary M Reilly; Christopher J Record; Amanda Krause; Fahmida Essop; Alina Esterhuizen; Jo M Wilmshurst
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Exercise training in adults with neuromuscular diseases: insights from two global surveys of lived experience and clinical practice成人神经肌肉疾病患者的运动训练：来自两项关于生活经历和临床实践全球调查的见解
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IF2.8
delete2026-09-19
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deleteNanna Scharff Poulsen; Madelon Kroneman; Ingrid de Groot; Sander Oorschot; Asunción Bustos-Sellers; Charlotte van Esch; Alejandro Lucia; John Vissing; Eric Lukas Voorn
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TTN-Related Limb-Girdle Muscular Dystrophy Caused by a Homozygous c.107837A>C Variant: First Report in an African PatientTTN相关肢带型肌营养不良由纯合子c.107837A>C变异引起：非洲患者中的首次报道
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IF2.8
delete2026-09-19
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deleteMaha Elseed; Marianela Schiava; Elizabeth Harris; Yolande Parkhurst; Abhijit Joshi; Emma Grover; Meredith K. James; Karen Wong; Jassi Sodhi; Doaa Salman; Ana Töpf; Chiara Marini Bettolo; Volker Straub
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Nemaline Myopathy Patient and Caregiver Perspectives: A Multinational Cross-Sectional Studynemaline肌病患者和护理人员视角：一项跨国横断面研究
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IF2.8
delete2026-09-16
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deleteStacy A. Cossette; Sanne A.J.H. van de Camp; Lucinda M. Lee; Matthias R. Lambert; Laurent Servais; Nicol C Voermans
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Lower urinary tract dysfunction in adults with myotonic dystrophy type 1: a multimodal clinical assessment成人强直性肌营养不良1型患者的下尿路功能障碍：一种多模式临床评估
deleteNeuromuscular Disorders
IF2.8
delete2026-09-15
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PREAI
deleteJose Antonio P. Prezotti; Jose de Bessa Jr; Victor B.P. Pinto; Davi P. Souza Martins; Claudia R. Hacad; André M. da Silva; Edmar Zanoteli; William C. Nahas; Cristiano M. Gomes
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Chronological Patterns of Pathogenic Variant Distributions in Muscular Dystrophy Genes肌营养不良基因中致病性变异分布的时间模式
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IF2.8
delete2026-09-12
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deleteTrek D. Stenger; Christine C. Bruels; Peter B. Kang
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Nocturnal sleep abnormalities occur before motor function deterioration in early-treated patients with infantile-onset Pompe disease: a two-decade newborn screening cohort study早治疗婴儿型庞贝病患者夜间睡眠异常早于运动功能恶化：一项为期二十年的新生儿筛查队列研究
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IF2.8
delete2026-09-12
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deleteYin-Hsuan Chien; Frank Leigh Lu; Pei-Lin Lee; Wei-Chung Hsu; Hui-An Chen; Rai-Hseng Hsu; Ni-Chung Lee; Wuh-Liang Hwu; Hsiao-Wen Chung; Yin-Hsiu Chien
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Longitudinal riboflavin response in homozygous SLC52A2 p.Pro134Leu: a Turkish kindred with riboflavin transporter deficiency type 2SLC52A2基因纯合子p.Pro134Leu变异导致的核黄素转运体缺乏症2型家系的纵向核黄素反应研究
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IF2.8
delete2026-09-09
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PREAI
deleteAli Zeki Bedir; Haluk Topaloğlu
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Facioscapulohumeral muscular dystrophy: revisiting three prevailing assumptions through the perspective of FSHD Europe进行性面肩肱肌营养不良：通过FSHD Europe视角重新审视三种主流假设
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IF2.8
delete2026-09-09
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deleteR. de Haas; A. Lanser; K. van der Graaf; D. Muratori; R. Gerpe; R. Badiani; E. Weatherley; S. Hawkins; N.C. Voermans
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