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Journal of neuromuscular diseases.

MEDLINE

中文名称：神经肌肉疾病杂志。

ISSN：2214-3599
出版周期：Semiannual

发文量：100

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1.Current Classification and Management of Inflammatory Myopathies

机译：目前炎症性肌病的分类和管理
- 作者：Schmidt Jens
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第2期
- Skeletal muscle;
- muscle inflammation;
- myositis;
- immunosuppression;
- neuroinflammation;
- autoimmunity;
2.Evaluator Training and Reliability for SMA Global Nusinersen Trials

机译：SMA Global Nusinersen试验的评估员培训和可靠性
- 作者：Glanzman Allan M.;Mazzone Elena S.;Young Sally Dunaway;Gee Richard;Rose Kristy;Mayhew Anna;Nelson Leslie;Yun Chris;Alexander Katie;Darras Basil T.;Zolkipli-Cunningham Zarazuela;Tennekoon Gihan;Day John W.;Finkel Richard S.;Mercuri Eugenio;De Vivo Darryl C.;Baldwin Ron;Bishop Kathie M.;Montes Jacqueline
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第2期
- SMA;
- spinal muscular atrophy;
- nusinersen;
- outcome measures;
- outcome assessment;
- reliability of results;
- multicenter;
- studies;
3.A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks

机译：利用脂肪堆的先天性肌营养不良的表型描述
- 作者：Prasad Madhavi;Glueck Michael;Ceballos-Saenz Delia;Zapata-Aldana Eugenio;Johnson Nicholas;Campbell Craig;Nguyen Cam-Tu Emilie
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
- Myotonic dystrophy;
- Human Phenotype Ontology;
- PhenoStacks;
- congenital;
4.Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

机译：Charcot-Marie-Tooth疾病型1A的改性剂基因候选：仅限案例基因组协会研究
- 作者：Tao Feifei;Beecham Gary W.;Rebelo Adriana P.;Blanton Susan H.;Moran John J.;Lopez-Anido Camila;Svaren John;Abreu Lisa;Rizzo Devon;Kirk Callyn A.;Wu Xingyao;Feely Shawna;Verhamme Camiel;Saporta Mario A.;Herrmann David N.;Day John W.;Sumner Charlotte J.;Lloyd Thomas E.;Li Jun;Yum Sabrina W.;Taroni Franco;Baas Frank;Choi Byung-Ok;Pareyson Davide;Scherer Steven S.;Reilly Mary M.;Shy Michael E.;Züchner Stephan
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
- Charcot-marie-tooth disease;
- type 1a;
- genome-wide association study;
- modifier gene;
- single nucleotide polymorphism;
5.Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)

机译：患有MFN2变体的家庭中的晚期发作CMT2A：C.2222T> G（P.Leu741TRP）
- 作者：Lin Hsin-Pin;Ho Kwo Wei David;Jerath Nivedita U.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
- Neuromuscular diseases;
- hereditary sensory and motor neuropathy;
- Charcot-Marie-Tooth disease;
- type 2A;
- MFN2 protein;
- human;
- genetic variation;
- pathogenicity;
- phenotype;
6.Neuromuscular Junction Disorders and Channelopathies-- NMJ+C01: Investigating muscle phenotype change with age in monogenic disease may provide new insights into the normal ageing process

机译：神经肌肉结紊乱和通道 - NMJ + C01：调查单身疾病年龄的肌肉表型变化可能会对正常老化过程提供新的见解
- 作者：K. J. Suetterlin;R. Mannikko;J Dick;H. Bostock;M. Grounds;A. Sayer;S.V. Tan;E. Matthews;L. Greensmith;M.G. Hanna
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第1期
7.Posters and Platform Presentations--D01: Selenoprotein related myopathy (SEPN1-RM): A comprehensive analysis of progression over time to guide clinicians and clinical trials

机译：海报和平台演示文稿 - D01：Selenoprotein相关肌病（Sepn1-RM）：随着时间的推移综合分析，以指导临床医生和临床试验
- 作者：A. Silwal;M.Scoto;D. Ridout;A. Schmidt;A. Laverty;M. Henriques;L. DArgenzio;M. Main;R. Mein;A. Sarkozy;M. Manzur
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第1期
8.Low Appendicular Lean Mass Index and Associations with Metabolic and Demographic Parameters in Wheelchair Athletes with Spinal Cord Injury

机译：具有脊髓损伤的轮椅运动员代谢和人口统计参数的低阑尾瘦肉质量指数和关联
- 作者：Fernndez Shirley Steffany Mu?oz;Ribeiro Sandra Maria Lima
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Muscular Atrophy;
- Metabolism;
- Body Composition;
- Exercise;
- Spinal Cord Injuries;
9.The Correlation of Skeletal and Cardiac Muscle Dysfunction in Duchenne Muscular Dystrophy

机译：杜森涅氏肌营养不良骨骼肌功能障碍的相关性
- 作者：Andrew D. Posner;Jonathan H. Soslow;W. Bryan Burnette;Aihua Bian;Ayumi Shintani;Douglas B. Sawyer Larry W. Markham
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
- Duchenne muscular dystrophy;
- cardiac dysfunction;
- cardiomyopathy;
- skeletal muscle dysfunction;
- ambulation;
10.Retrospective Analysis of Eculizumab in Patients with Acetylcholine Receptor Antibody-Negative Myasthenia Gravis: A Case Series

机译：乙酰胆碱受体抗体阴性肌肌肌肌肌肌炎患者的回顾性分析：案例系列
- 作者：Datta Sorabh;Singh Shivangi;Govindarajan Raghav
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Myasthenia gravis;
- ACh receptors;
- neuromuscular junction;
- complement inactivating agents;
- activities of daily living;
- corticosteroids;
11.Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1

机译：具有肌动肌营养不良型男性的最大膝关节延伸器强度的量化肌肉检测的rater-rater可靠性和同时有效性
- 作者：Roussel Marie-Pier;Hébert Luc J.;Duchesne Elise
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
- Myotonic dystrophy type 1;
- muscle strength;
- quantified muscle testing;
- isokinetic device;
- intra-rater reliability;
- concurrent validity;
12.Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB 1 Mutations using the Rosa26 Locus

机译：使用ROSA26基因座的两种Charcot-Marie-Teamer导致HSPB 1突变的新转基因小鼠模型的表征
- 作者：Delphine Bouhy;Thomas Geuens;Vicky De Winter;Leonardo Almeida-Souza;Istvan Katona;Joachim Weis;TinoHochepied;Steven Goossens;Jody J. Haigh;Sophie Janssens Vincent Timmerman
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- Peripheral nervous system disease;
- HSPB1;
- transgenic mice;
- ROSA26 locus;
13.Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1

机译：用Nusinersen治疗 - 关于SMA 1型儿童迹象的挑战
- 作者：Pechmann Astrid;Baumann Matthias;Bernert Günther;Flotats-Bastardas Marina;Gruber-Sedlmayr Ursula;von der Hagen Maja;Hasselmann Oswald;Hobbiebrunken Elke;Horber Veronka;Johannsen Jessika;Kellersmann Anna;K?hler Cornelia;von Moers Arpad;Müller-Felber Wolfgang;Plecko Barbara;Reihle Christof;Schlachter Kurt;Schreiber Gudrun;Schwartz Oliver;Smitka Martin;Steiner Elisabeth;Stoltenburg Corinna;Stüve Burkhard;Theophil Manuela;Wei? Claudia;Wiegand Gert;Wilichowski Ekkehard;Winter Benedikt;Wittmann Wolfgang;Schara Ulrike;Kirschner Janbernd
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第1期
14.Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

机译：DMD缺失断点的非随机分布和双链的含义破裂修复和复制误差修复机制
- 作者：Isabelle Marey;Rabah Ben Yaou;Nathalie Deburgrave;Aurelie Vasson;Juliette Nectoux;France Leturcq;Bruno Eymard;Pascal Laforet;Anthony Behin;Tanya Stojkovic;Michele Mayer;Vincent Tiffreau;Isabelle Desguerre;Francois Constant Boyer
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- DMD gene;
- deletion breakpoints;
- double strand break repair;
- replication error repair mechanisms;
15.Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach

机译：使用反义寡核苷酸方法高效跳过DMD患者衍生细胞系中的单一外显子重复
- 作者：Wein Nicolas;Vulin Adeline;Findlay Andrew R.;Gumienny Felecia;Huang Nianyuan;Wilton Steve D.;Flanigan Kevin M.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第3期
- Duchenne muscular dystrophy;
- duplications;
- exon skipping;
- dystrophin;
- antisenseoligonucleotide;
16.Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials

机译：骨骼肌定量核磁共振成像和光谱学作为临床试验的结果措施
- 作者：Pierre G. Carlier;Benjamin Marty;Olivier Scheidegger;Paulo Loureirode Sousa;Pierre-Yves Baudin;Eduard Snezhko Dmitry Vlodavets
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
17.MuscleViz: Free Open-Source Software for Muscle Weakness Visualization

机译：Muscleviz：用于肌肉虚弱可视化的免费开源软件
- 作者：Wittenbach Jason D.;Cocanougher Benjamin T.;Yun Pomi;Foley A. Reghan;B?nnemann Carsten G.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
18.RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

机译：恢复：转基因脊髓肌萎缩患者的预期跨国注册表 - 理论和研究设计
- 作者：Finkel Richard S.;Day John W.;De Vivo Darryl C.;Kirschner Janbernd;Mercuri Eugenio;Muntoni Francesco;Shieh Perry B.;Tizzano Eduardo;Desguerre Isabelle;Quijano-Roy Susana;Saito Kayoko;Droege Marcus;Dabbous Omar;Khan Farid;Renault Lydie;Anderson Frederick A.;Servais Laurent
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- Spinal muscular atrophy;
- multinational;
- prospective;
- registry;
- outcomes;
- rare disease;
- long-term follow-up;
- NCT04174157;
19.Participation and the Role of Neuropsychological Functioning in Myotonic Dystrophy Type 1

机译：参与和神经心理功能在肌营养不良型中的作用1
- 作者：Van Heugten Caroline;Meuleman Susan;Hellebrekers Danique;Kruitwagen-van Reenen Esther;Visser-Meily Johanna
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第2期
- Activities of daily living;
- social participation;
- myotonic dystrophy;
- neuromuscular diseases;
- apathy;
20.Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

机译：在另外两家家庭中确认TACO1作为Leigh综合征疾病基因
- 作者：Oktay Yavuz;Güng?r Serdal;Zeltner Lena;Wiethoff Sarah;Sch?ls Ludger;Sonmezler Ece;Yilmaz Elmasnur;Munro Benjamin;Bender Benjamin;Kernstock Christoph;Kaemereit Sofie;Liepelt Inga;T?pf Ana;Yis Uluc;Laurie Steven;Yaramis Ahmet;Zuchner Stephan;Hiz Semra;Lochmüller Hanns;Schüle Rebecca;Horvath Rita
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
21.Pseudoexons of the DMD Gene

机译：DMD基因的伪娱乐
- 作者：Keegan Niall P.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- Cryptic Splice Sites;
- Muscular Dystrophy;
- Duchenne;
- DNA Mutational Analysis;
- RNA Splicing;
22.Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy

机译：用Duchenne肌营养不良的青少年加速度评估体力活动
- 作者：Arteaga David;Donnelly Thomas;Crum Kimberly;Markham Larry;Killian Mary;Burnette W. Bryan;Soslow Jonathan;Buchowski Maciej S.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Duchenne muscular dystrophy (DMD);
- accelerometry;
- physical activity;
- ambulation;
23.Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy

机译：血液衍生的生物标志物与Duchenne肌营养不良的临床进展相关联
- 作者：Strandberg Kristin;Ayoglu Burcu;Roos Andreas;Reza Mojgan;Niks Erik;Signorelli Mirko;Fasterius Erik;Pontén Fredrik;Lochmüller Hanns;Domingos Joana;Ala Pierpaolo;Muntoni Francesco;Aartsma-Rus Annemieke;Spitali Pietro;Nilsson Peter;Szigyarto Cristina Al-Khalili
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Affinity-based proteomics;
- protein biomarkers;
- Duchenne muscular dystrophy;
- disease progression;
- serum and plasma;
24.Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy

机译：与De Novo 11Q.2Q.114.1复制相关的肌肉，眼镜和脑参与：对肌肉眼脑先天性营养不良症的差异诊断的贡献
- 作者：Villar-Quiles Rocío N.;Gomez-Garcia de la Banda Marta;Barois Annie;Bouchet-Séraphin Celine;Romero Norma B.;Rio Marlène;Quijano-Roy Susana;Ferreiro Ana
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第1期
- Myopathy;
- ocular involvement;
- congenital muscular dystrophy;
- muscle-eye-brain;
- dystroglycanopathy;
- CNV;
25.Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

机译：DMD外显子51的临床表型跳过等效缺失：系统审查
- 作者：Waldrop Megan A.;Yaou Rabah Ben;Lucas Karin K.;Martin Ann S.;O’Rourke Erin;FILNEMUS;Ferlini Alessandra;Muntoni Francesco;Leturcq France;Tuffery-Giraud Sylvie;Weiss Robert B.;Flanigan Kevin M.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- DMD;
- BMD;
- exon skipping;
- eteplirsen;
- systematic review;
26.Respiratory Assessment of ALS Patients: A Nationwide Survey of Current Dutch Practice

机译：ALS患者的呼吸评估：全国范围的荷兰练习综述
- 作者：Tilanus T.B.M.;Groothuis J.T.;ten Broek-Pastoor J.M.C.;Doorduin J.;van Engelen B.G.M.;Kampelmacher M.J.;Raaphorst J.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第4期
- ALS;
- respiratory function tests;
- non-invasive ventilation;
27.Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

机译：鉴定CAPN3中新型深入内含性突变，呈现治疗性接头调节的有前途靶标
- 作者：Hu Ying;Mohassel Payam;Donkervoort Sandra;Yun Pomi;Bolduc Véronique;Ezzo Daniel;Dastgir Jahannaz;Marshall Jamie L.;Lek Monkol;MacArthur Daniel G.;Foley A. Reghan;B?nnemann Carsten G.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Calpainopathy;
- LGMD2A;
- deep intronic mutation;
- phosphorodiamidate morpholino oligomer (PMO);
28.AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort

机译：SMA1的AVXS-101（OnAsmaNogene AbepeRvovec）：比较研究与预期自然历史队列
- 作者：Al-Zaidy Samiah A.;Kolb Stephen J.;Lowes Linda;Alfano Lindsay N.;Shell Richard;Church Kathleen R.;Nagendran Sukumar;Sproule Douglas M.;Feltner Douglas E.;Wells Courtney;Ogrinc Francis;Menier Melissa;L’Italien James;Arnold W. David;Kissel John T.;Kaspar Brian K.;Mendell Jerry R.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
29.Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

机译：二氢吡啶受体在一个悬垂的土耳其家庭中的先天性肌病
- 作者：Yi? Ulu?;Hiz Semra;Güne? Sezgin;Diniz Gülden;Baydan Figen;T?pf Ana;Sonmezler Ece;Lochmüller Hanns;Horvath Rita;Oktay Yavuz
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
30.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

机译：针对肌病的靶向再测序乳液PCR面板：结果94例
- 作者：Jaya Punetha;Akanchha Kesari;Prech Uapmyoying;Mamta Giri;Nigel F. Clarke;Leigh B. Waddell;Kathryn N. North;Roula Ghaoui;Gina L. OGrady;Emily C. Oates;Sarah A. Saradura;Carsten G. Bonnemann;Sra Donkervoort;Paul H. Plotz;Edward C. Smith;Carolina Tesi -Rocha
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
31.Accurate Dystrophin Quantification in Mouse Tissue; Identification of New and Evaluation of Existing Methods

机译：精确的营养不良蛋白在小鼠组织中定量; 鉴定现有方法的新和评价
- 作者：Margriet Hulsker;Ingrid Verhaart;Laura van Vliet;Annemieke Aartsma-Rus Maaike van Putten
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
- Duchenne muscular dystrophy;
- dystrophin;
- TaqMan protein assay;
- Trans-Blot Turbo transfer system;
- protein quantification;
32.Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

机译：纯合肌酐C.179C> T（P.Ser60phe）突变导致更严重和近端的肌营养不良
- 作者：Gabrielle Rudolf;Tiina Suominen;Sini Penttila;Peter Hackman;Anni Evila;Beatrice Lannes;Andoni Echaniz-Laguna;Guillaume Bierry;Christine Bjarne Udd
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- Molecular genetics;
- myotilin homozygosity;
- myofibrillar myopathy;
- MYOT;
- c.179Cgt;
- T (p.Ser60Phe);
33.Characterizing Enrollment in Observational Studies of Duchenne Muscular Dystrophy by Race and Ethnicity

机译：种族和种族对Duchenne肌营养不良观察研究的表征
- 作者：Barnard Alison M.;Riehl Samuel L.;Willcocks Rebecca J.;Walter Glenn A.;Angell Amber M.;Vandenborne Krista
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- Muscular dystrophies;
- Bibliometrics;
- Healthcare Disparities;
- Minority Health;
- Observational Studies;
34.Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints

机译：McARDLE病中的咀嚼和口服运动功能：患者报告投诉
- 作者：Kouwenberg C.V.;Voermans N.C.;Quinlivan R.;van den Engel-Hoek L.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第3期
- McArdle disease;
- glycogen storage disease type V;
- mastication;
- oral motor function;
35.NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project

机译：先天性肌营养不良临床研究的常见数据元素：国家神经障碍和中风项目研究所
- 作者：Lawlor Michael W.;Iannaccone Susan T.;Mathews Katherine;Muntoni Francesco;Alai-Hansen Sherita;Odenkirchen Joanne C.;S. Feldman Robin;On behalf of the CMD Working Group
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第1期
- Common data elements;
- congenital muscular dystrophy;
- neuromuscular disease;
- standardization;
36.Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

机译：Spinal肌肉萎缩（SMA）患者中的亚型协调：治愈SMA COSHORT的结果
- 作者：Jones Cynthia C.;Cook Suzanne F.;Jarecki Jill;Belter Lisa;Reyna Sandra P.;Staropoli John;Farwell Wildon;Hobby Kenneth
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第1期
- Child;
- growth and development;
- epidemiology;
- genetics;
- infant;
- mutation;
- neuromuscular disease;
37.A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs

机译：线粒体天冬氨酸/谷氨酸载体中的突变导致更氧化的肿瘤内环境和荷兰牧羊犬的炎症性肌病
- 作者：Shelton G. Diane;Minor Katie M.;Li Kefeng;Naviaux Jane C.;Monk Jon;Wang Lin;Guzik Elizabeth;Guo Ling T.;Porcelli Vito;Gorgoglione Ruggiero;Lasorsa Francesco M.;Leegwater Peter J.;Persico Antonio M.;Mickelson James R.;Palmieri Luigi;Naviaux Robert K.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Canine;
- myopathy;
- lt;
- igt;
- SLC25A12lt;
- /igt;
- mitochondrial transporter;
- metabolomics;
38.Anti-HMGCR Myopathy

机译：抗HMGCR肌病
- 作者：Mohassel Payam;Mammen Andrew L.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第1期
- Anti-HMGCR myopathy;
- necrotizing myopathy;
- myositis;
- limb-girdle muscular dystrophy;
- autoimmunity;
39.Obinutuzumab Plus Chlorambucil in a Patient with Severe Myasthenia Gravis and Chronic Lymphocytic Leukemia

机译：obinutuzumab加上患有严重肌炎的患者的氯镁和慢性淋巴细胞白血病
- 作者：Russell Angela;Yaraskavitch Megan;Fok Daniel;Chhibber Sameer;Street Lesley;Korngut Lawrence
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第3期
- Myasthenia gravis;
- chronic lymphocytic leukemia;
- obinutuzumab;
- rituximab;
- autoimmune;
- immunotherapy;
40.Invited Speakers Friday 5th April 2019--S09: Genome Editing for Duchenne Muscular Dystrophy

机译：邀请扬声器2019年4月5日星期五 - S09：Duchenne肌营养不良的基因组编辑
- 作者：Christopher E. Nelson;Jacqueline N. Robinson-Hamm;Jennifer E. Kwon;Karen Bulaklak;Veronica Gough;Joel D. Bohning;Matthew Gemberling;Charles A. Gersbach
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第1期
41.Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

机译：TTR淀粉样症的临床介绍，诊断和治疗
- 作者：Kapoor Mahima;Rossor Alexander M.;Laura Matilde;Reilly Mary M.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
- Amyloid;
- TTR;
- polyneuropathy;
- treatment;
- gene-silencing;
42.Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy

机译：Eteplirsen治疗衰减了Duchenne肌营养不良患者的动态和非动力患者的呼吸衰退
- 作者：Khan Navid;Eliopoulos Helen;Han Lixin;Kinane T. Bernard;Lowes Linda P.;Mendell Jerry R.;Gordish-Dressman Heather;Henricson Erik K.;McDonald Craig M.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
- Dystrophin;
- Exondys 51;
- forced expiratory volume;
- vital capacity;
43.Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy

机译：脊髓肌萎缩成人尿床治疗前瞻性队列研究
- 作者：Yeo Crystal Jing Jing;Simeone Sarah D.;Townsend Elise L.;Zhang Ren Zhe;Swoboda Kathryn J.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Spinal muscular atrophy;
- adult;
- antisense oligonucleotides;
- treatment outcome;
- exercise tolerance;
44.Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1

机译：肌动肌营养不良患者护理人员的护理人员和相关因素1
- 作者：Kurauchi Go;Endo Makiko;Odaira Kaori;Ono Ryohei;Koseki Atsushi;Goto Momoko;Sato Yumi;Kon Seiko;Watanabe Norio;Sugawara Norio;Kimura En;Takada Hiroto
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Caregivers;
- burden of illness;
- activities of daily living;
- mental health;
- trinucleotide repeats;
- psychosocial support systems;
45.Sill -Mutant Mice Elucidate Chaperone Function in Neurological Disorders

机译：脊髓植物小鼠在神经系统疾病中阐明伴侣源功能
- 作者：Stephan Buchkremer;Jose Andres Gonzalez Coraspe;Joachim Weis Andreas Roos
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- BiP;
- cerebellar ataxia;
- chaperone;
- vacuolar myopathy;
- woozy mouse;
46.A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

机译：MT-ATP6突变导致缓慢进展的骨髓病变
- 作者：Bardakjian Tanya;Scherer Steven S.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
- Neuropathy;
- myelopathy;
- mitochondria;
- CMT;
- MT-ATP6;
47.Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico

机译：波多黎各杜氏和贝克尔肌营养不良的患病率和遗传概况
- 作者：Edwardo Ramos;Jose G. Conde;Rafael Arias Berrios;Sherly Pardo;Omar G6mez Manuel F. Mas Rodriguez
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- Duchenne muscular dystrophy;
- Becker muscular dystrophy;
- dystrophinopathy;
- muscular dystrophy;
- Puerto Rico;
48.Dysautonomia as the Presenting Symptom in Anti-Muscle-Specific Kinase Antibody Myasthenia Gravis

机译：DysoOdoMia作为抗肌肉特异性激酶抗体MyAsthenia的症状症状
- 作者：Bekooij T.J.S.;Gilhuis H.J.;Dawson L.;Niks E.H.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第1期
49.Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis

机译：Carey-Fineman-ziter综合征：Mymk相关的肌病模仿脑干肿瘤功能
- 作者：Camacho Ana;Martínez Beatriz;Alvarez Sara;Gil-Fournier Belén;Ramiro Soraya;Hernández-Laín Aurelio;Nú?ez Noemí;Simón Rogelio
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Carey-Fineman-Ziter syndrome;
- congenital myopathy;
- facial weakness;
- myomaker (lt;
- igt;
- MYMKlt;
- /igt;
- gene);
50.Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy

机译：儿童和成年人自我报告的鳞片问题脊柱肌肉萎缩
- 作者：van der Heul A.M.B.;Wijngaarde C.A.;Wadman R.I.;Asselman F.;van den Aardweg M.T.A.;Bartels B.;Cuppen I.;Gerrits E.;van den Berg L.H.;van der Pol W.L.;van den Engel-Hoek L.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
- Feeding and swallowing problems;
- dysphagia;
- bulbar function;
- spinal muscular atrophy.;
51.Peripheral Neuropathy--PN01: Preliminary falls and functional balance data from the BALTiC study: A feasibility analysis of home based BALance Training in people with Charcot-Marie-Tooth disease

机译：外周神经病变 - PN01：波罗的海研究中的初步落下和功能平衡数据：Charcot-Marie-Tooth疾病的人们的余额训练的可行性分析
- 作者：Dudziec;Lee;L.E;Massey;C;Skorupinska;Laura;M;Reilly;MM;Ramdharry;G.M
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第1期
52.'Get the Balance Right': Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders

机译：“获得平衡权”：神经肌肉障碍中自噬扰动的病理意义
- 作者：Perrine Castets;Stephan Frank;Michael Sinnreich Markus A. Riiegg
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- Autophagy;
- skeletal muscle;
- MAP1LC3;
- p62/SQSTMl;
- vacuole;
- myopathy;
- dystrophy;
- mTORCl;
- FoxO;
- mitophagy;
53.Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands

机译：DMD和SMA报告中的临床前研究标准操作程序的更新，纽姆公司，斯希普霍尔机场，2015年4月26日，荷兰
- 作者：van Putten Maaike;Aartsma-Rus Annemieke;Grounds Miranda D.;Kornegay Joe N.;Mayhew Anna;Gillingwater Thomas H.;Takeda Shin’ichi;Rüegg Markus A.;De Luca Annamaria;Nagaraju Kanneboyina;Willmann Raffaella
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第1期
- preclinical;
- translational research;
- DMD;
- SMA;
- standard operating procedures;
54.Sexual Reassignment Fails to Prevent Kennedy's Disease

机译：性重新分配未能防止肯尼迪的疾病
- 作者：Tyler A. Lanman;Dara Bakar;Nisha M. Badders;Ailbhe Burke;Angela Kokkinis;Joseph A. Shrader;Galen O. Joe;Alice B. Schindlef;Laura C. Bott;George G. Harmison;J. Paul Taylor;Kenneth H. Fischbeck Christopher Grunseich
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
- Motor neuron disease;
- bulbo-spinal atrophy;
- X-Linked;
- spironolactone;
- receptors;
- androgen;
55.Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

机译：遗传骨骼肌病中三肽变体分类的改进标准
- 作者：Savarese Marco;Johari Mridul;Johnson Katherine;Arumilli Meharji;Torella Annalaura;T?pf Ana;Rubegni Anna;Kuhn Marius;Giugliano Teresa;Gl?ser Dieter;Fattori Fabiana;Thompson Rachel;Penttil? Sini;Lehtinen Sara;Gibertini Sara;Ruggieri Alessandra;Mora Marina;Maver Ales;Peterlin Borut;Mankodi Ami;Lochmüller Hanns;Santorelli Filippo Maria;Schoser Benedikt;Fajkusová Lenka;Straub Volker;Nigro Vincenzo;Hackman Peter;Udd Bjarne
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- Titin;
- cardiomyopathies;
- skeletal muscle disorders;
- clinical interpretation;
- data sharing;
56.The Dog Model in the Spotlight: Legacy of a Trustful Cooperation

机译：狗模型在聚光灯下：遗产是可靠的合作
- 作者：Barthélémy Inès;Hitte Christophe;Tiret Laurent
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Comparative genomics;
- laurasiatheria;
- euarchontoglires;
- domestication;
- animal model;
- comparative medicine;
- myology;
- myopathies;
- neurology;
- DMD;
- mdx;
- CNM;
- MTM1;
- SMA;
- gene therapy;
- AAV;
- CRISPR/Cas9;
- genetic testing;
- ethics;
- 3?R rule;
- rehoming;
- medical costs;
57.Relationships between Lower Limb Muscle Strength Impairments and Physical Limitations in DM1

机译：下肢肌肉力量损伤与DM1的身体限制之间的关系
- 作者：Petitclerc émilie;Hébert Luc J.;Mathieu Jean;Desrosiers Johanne;Gagnon Cynthia
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第2期
- Myotonic dystrophy;
- phenotype;
- muscle strength;
- mobility limitation;
58.Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy

机译：核核心骨细胞在Oculopharyngeal肌营养不良症的临床发作之前
- 作者：B.M. van der Sluijs;V. Raz;M. Lammens;L.P. van den Heuvel;N.C. Voermans B.G.M. van Engelen
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
- Oculopharyngeal muscular dystrophy;
- nuclear aggregates;
- presymptomatic carrier;
- mitochondria;
59.Defects in Axonal Transport in Inherited Neuropathies

机译：遗传性神经病轴突运输中的缺陷
- 作者：Beijer Danique;Sisto Angela;Van Lent Jonas;Baets Jonathan;Timmerman Vincent
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Axonal transport;
- inherited peripheral neuropathies;
- Charcot-Marie-Tooth disease;
- genetics;
- neurodegeneration;
- cytoskeleton;
- molecular motors;
- cargoes;
- therapeutics;
60.Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA

机译：散发性含有态度肌炎患者死亡的死亡率和原因：调查研究基于澳大利亚，欧洲和美国专家临床经验的调查研究
- 作者：Mark A. Price;Victoria Barghout;Olivier Benveniste;Lisa Christopher-Stine;Alastair Corbett;Marianne de Visser;David Hilton-Jones;John T. Kissel;Thomas E. Lloyd;Ingrid E. Lundberg;Francis Mastaglia;Tahseen Mozaffar;Merrilee Needham;Jens Schmidt;Kumaraswamy Sivakumar;Carla DeMuro Brian S. Tseng
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
- Myositis;
- inclusion body;
- cause of death;
- mortality;
- deglutition disorder;
- neuromuscular disease;
- myositis;
- morbidity;
61.Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

机译：脊髓肌肉萎缩治疗的进展 - 新表型，新挑战，护理新的影响
- 作者：Schorling David C.;Pechmann Astrid;Kirschner Janbernd
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第1期
- Spinal muscular atrophy;
- antisense oligonucleotides;
- gene therapy;
- outcome assessment;
- neonatal screening;
- registries;
62.Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

机译：亚氨基酸延长释放给药在对肌病的48周的研究中保持上肢肌肉强度：由第2阶段，随机，受控研究的结果
- 作者：Zohar Argov;Yoseph Caraco;Heather Lau;AlanPestronk;Perry B. Shieh;Alison Skrinar;Tony Koutsoukos;Ruhi Ahmed;Julia Martinisi Emil Kakkis
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第1期
- Sialic acid;
- hereditary inclusion body myopathy;
- GNE Myopathy;
- distal myopathy with rimmed vacuoles;
- myopathy therapy;
63.Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats

机译：肌肌营养不良1型脑结构特征及其与CTG重复的关系
- 作者：van der Plas Ellen;Hamilton Mark J.;Miller Jacob N.;Koscik Timothy R.;Long Jeffrey D.;Cumming Sarah;Povilaikaite Julija;Farrugia Maria Elena;McLean John;Jampana Ravi;Magnotta Vincent A.;Gutmann Laurie;Monckton Darren G.;Nopoulos Peggy C.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
- Myotonic dystrophy;
- magnetic resonance imaging;
- neuroanatomy;
64.Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

机译：血液流向脾脏的血液肌肉萎缩的小鼠模型中被改变
- 作者：Deguise Marc-Olivier;Beauvais Ariane;Schneider Bernard L.;Kothary Rashmi
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Immune system;
- perfusion;
- blood flow;
- vasculature;
- mouse models;
65.Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

机译：通过策划膜修复芭蕾来修复肌肉细胞修复突发
- 作者：Barthélémy Florian;Defour Aurélia;Lévy Nicolas;Krahn Martin;Bartoli Marc
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第1期
- Muscle;
- membrane;
- dystrophy;
- dysferlin;
- myopathy;
66.N-terminal a Dystroglycan (aDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy

机译：N-末端Aystroglycan（ADG-N）：潜在的血清生物标志物，用于Duchenne肌营养不良症
- 作者：Kelly E. Crowe;Guohong Shao;Kevin M. Flanigan Paul X Martin
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- Dystroglycan;
- muscular dystrophy;
- biomarker;
- dystrophin;
- utrophin;
67.Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?

机译：通过新生儿筛查诊断患有脊柱肌肉萎缩和4个SMN2副本的婴儿 - 机会或负担？
- 作者：Müller-Felber Wolfgang;Vill Katharina;Schwartz Oliver;Gl?ser Dieter;Nennstiel Uta;Wirth Brunhilde;Burggraf Siegfried;R?schinger Wulf;Becker Marc;Durner Jürgen;Eggermann Katja;Müller Christine;Hannibal Iris;Olgem?ller Bernd;Schara Ulrike;Blaschek Astrid;K?lbel Heike
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- Spinal muscular atrophy;
- newborn screening;
- survival motor neuron gene;
- lt;
- igt;
- SMN2lt;
- /igt;
68.Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent

机译：印度亚大陆GNE肌病的突变谱
- 作者：Bhattacharya Sudha;Khadilkar Satish V.;Nalini Atchayaram;Ganapathy Aparna;Mannan Ashraf U.;Majumder Partha P.;Bhattacharya Alok
- 期刊名称：《Journal of neuromuscular diseases.》 | 2018年第1期
- GNE myopathy;
- Indian subcontinent;
- mutations;
- founder mutation;
69.Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

机译：基因大小是诊断骨骼肌疾病的问题吗？
- 作者：Savarese Marco;V?lipakka Salla;Johari Mridul;Hackman Peter;Udd Bjarne
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
70.Severe Exacerbation of My asthenia Gravis Associated with Checkpoint Inhibitor Immunotherapy

机译：对Checkpoint抑制剂免疫疗法有关的哮喘重臂的严重加剧
- 作者：Dana S. Cooper;Matthew N. Meriggioli;Philip D. Bonomi;Rabia Malika ^dgt;Department of Neurological Sciences;Rush University Medical Center;Chicago;IL;USA
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Myasthenia Gravis;
- nivolumab;
- immune check point inhibitor;
- programmed death-1 (PD-1);
71.Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

机译：与中枢性核心病或恶性热疗相关的C末端ryanodine受体1变体的功能表征
- 作者：Remai Parker;Anja H. Schiemann;Elaine Langton;Terasa Bulger;Neil Pollock;Andrew Bjorksten;Robyn Gillies;David Hutchinson;Richard Roxburgh;Kathryn M. Stowel P
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Central core disease;
- malignant hyperthermia;
- ryanodine receptor;
- calcium release channel;
- skeletal muscle;
72.Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy

机译：创建Duchenne肌营养不良症的新型人源化营养不良小鼠模型及CRISPR / CAS9基因编辑治疗的应用
- 作者：Courtney S. Young;Ekaterina Mokhonova;Marbella Quinonez;April D. Pyle;Melissa J. Spencer
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Duchenne muscular dystrophy;
- gene editing;
- CRISPR;
- mice;
- animal models;
73.Outcomes of Hospitalised Muscular Dystrophy Patients

机译：住院肌营养不良患者的结果
- 作者：Ghilas Boussaid;Helene Prigent;Gilbert Caranhac;Djillali Annane;Christian Devaux;David Orlikowski;Frederic Lofaso
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Muscular dystrophy;
- humans;
- inpatients;
- outcome assessment (healthcare);
- respiration;
- artificial/methods;
- retrospective studies;
74.A Systematic Review and Meta-Analysis of Prevalence Studies of Sporadic Inclusion Body Myositis

机译：散发性包涵体肌炎患病率研究的系统综述与荟萃分析
- 作者：Aoife Callan;Gorana Capkun;Vijayalakshmi Vasanthaprasad;Rita Freitas;Merrilee Needham
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Inclusion Body Myositis;
- epidemiology;
- prevalence;
- idiopathic inflammatory myopathies;
- meta-analysis;
75.Postnatal Development of Spasticity Following Transgene Insertion in the Mouse Spectrin Gene (SPTBN4)

机译：在小鼠光谱基因中的转基因插入后痉挛的产后开发（SPTBN4）
- 作者：Eva Kichkin;Archunan Visvanathan;Frank J. Lovicu;Daisy Y. Shu;Shannon J. Das;Stephen W. Redder;Emily P. McCann;Katharine Y Zhang;Kelly L. Williams;Ian P. Blair;William D. Phillips
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Spectrin;
- hereditary spastic paraplegia;
- mice;
- hind limb;
76.Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-alpha2 Related Congenital Muscular Dystrophy

机译：提高层压素-α2患者肌营养不良的DYW小鼠模型中表型评估的再现性
- 作者：Raffaella Willmann;Heather Gordish-Dressman;Sarina Meinen;Markus A. Riiegg;Qing Yu;Kanneboyina Nagaraju;Ayar Kumar;Mahasweta Girgenrath;Caroline B.M. Coffey;Vivian Cruz;Pam M. Van Ry;Laurent Bogdanik;Cathleen Lutz;Anne Rutkowski;Dean J. Burkin
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- LAMA2-CMD;
- mouse models;
- preclinical;
- MDC1A;
- LAMA2-RD;
77.Sarcomere Dysfunction in Nemaline Myopathy

机译：肉瘤肌病的肉瘤功能障碍
- 作者：Josine M. de Winter;Coen A.C. Ottenheijm
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第2期
- Nemaline myopathy;
- thin filament;
- contractility;
78.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches

机译：myofibrillar肌病：从动物模型到潜在治疗方法的新观点
- 作者：Sabrina Batonnet-Pichon;Anthony Behin;Eva Cabet;Florence Patrick Vicart;Alain Lilienbaum
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Myofibrillar myopathies;
- MFM animal models;
- therapeutics;
79.Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases

机译：安德森 - Tawil综合征，早期发病肌病：2例
- 作者：Gokcen Oz Tuncer;Serap Teber;Muhammed Giiltekin Kutluk;Pelin Albayrak;Gulhis Deda
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
80.Neuromyelitis Optica in a Patient from Family with both Myotonic Dystrophy Type 1 and 2

机译：来自肌肉营养不良型1和2的家庭患者的神经髓炎Optica
- 作者：V. Rakocevic-Stojanovic;S. Peric;I. Dujmovic;J. Drulovic;J. Pesovic;D. Savic-Pavicevic
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Myotonic dystrophy type 1;
- myotonic dystrophy type 2;
- autoimmune diseases;
- neuromyelitis optica;
81.RYR1 -Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre

机译：Ryr1-相关的肌病：葡萄牙三级中心17名患者中的临床，组织病理学和遗传异质性
- 作者：Raquel Samoes;Jorge Oliveira;Ricardo Taipa;Teresa Coelho;Marcio Cardoso;Ana Goncalves;Rosario Santos;Manuel Melo Pires;Manuela Santos
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Gentral core;
- centronuclear;
- congenital myopathies;
- joint laxity;
- malignant hyperthermia;
- myopathy;
- ryanodine receptor 1;
- RYR1;
82.Histopathologic and Biochemical Evidence for Mitochondrial Disease Among 279 Patients with Severe Statin Myopathy

机译：279例严重汀类药物肌病的279例患者线粒体病的组织病理学和生物化学证据
- 作者：Tieying Hou;Yilan Li;Weiwei Chen;Reid R. Heffner;Georgirene D. Vladutiu
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Statin myopathy;
- respiratory chain defect;
- mitochondrial dysfunction;
- electron microscopy;
83.SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy

机译：SMN血液水平脊髓肌萎缩的猪模型
- 作者：Chitra Iyer;Xueqian Wang;Samantha R. Renusch;Sra I. Duque;Allison M. Wehr;Xiaokui-Molly Mo;Vicki L. McGovern;W. David Arnold;Arthur H.M. Burghes;Stephen J.Kolb
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- ddPCR;
- gene-therapy;
- scAAV9-shRNA;
- scAAV9-SMN;
- SMA;
- SMN;
84.Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

机译：质子磁共振光谱表明Duchenne肌营养不良患者的保存脑生化组合物
- 作者：Nathalie Doorenweerd;Melissa Hooijmans;Stephanie A. Schubert;Andrew G. Webb;Chiara S.M. Straathof;Erik W. van Zwet;Mark A. van Buchem;Jan J.G.M. Verschuuren;Jos G.M. Hendriksen;Erik H. Niks;Hermien E. Kan
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Duchenne muscular dystrophy;
- brain;
- magnetic resonance spectroscopy;
- metabolites;
85.Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review

机译：测量神经肌肉障碍患者的习惯性体育活动：系统评价
- 作者：Aura Cecilia Jimenez-Moreno;Jane Newman;Sarah J. Charman;Michael Catt;Michael I. Trenell;Grainne S. Gorman;Jean-Yves HogreP;Hanns Lochmiiller
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Physical activity;
- daily activity;
- exercise;
- activity monitor;
- neuromuscular disorders;
- muscular dystrophy;
86.Cardiac Involvement Classification and Therapeutic Management in Patients with Duchenne Muscular Dystrophy

机译：Duchenne肌营养不良患者的心脏受累分类和治疗管理
- 作者：Abdallah Fayssoil;Soumeth Abasse;Katy Silverston
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第1期
- Duchenne muscular dystrophy;
- cardiomyopathy;
- echocardiography;
- classification;
- CMR;
87.A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

机译：具有Charcot-Marie牙齿疾病，轴突，2U患者在患者中的一种新型突变，具有先天性发作
- 作者：Gillespie Meredith K.;McMillan Hugh J.;Kernohan Kristin D.;Pena Izabella A.;Meyer-Schuman Rebecca;Care4Rare Canada Consortium;Antonellis Anthony;Boycott Kym M.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第3期
- MARS;
- early-onset neuropathy;
- exome sequencing;
- Charcot-Marie-Tooth disease type 2U;
- CMT2U;
88.Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

机译：修订了通过新生儿筛查诊断患有脊髓肌萎缩的婴儿的修订建议，他有4份SMN2副本
- 作者：Glascock Jacqueline;Sampson Jacinda;Connolly Anne M.;Darras Basil T.;Day John W.;Finkel Richard;Howell R. Rodney;Klinger Katherine W.;Kuntz Nancy;Prior Thomas;Shieh Perry B.;Crawford Thomas O.;Kerr Douglas;Jarecki Jill
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
89.Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum

机译：Bethlem肌病表型和随访：在频谱最温和的末端描述8名患者
- 作者：Simao Cruz;Sebastian Figueroa-Bonaparte;Eduard Gallardo;Alix de Becdelievre;Corine Gartioux;Valerie Allam;Patricia Pinol;Maria Angels Rodriguez Garcia;Cecilia Jimenez-Mallebriera;Jaume Llauger;Lidia Gonzalez-Rodriguez;Elena Cortes- Vicente;Isabel Illa Jordi Diaz-Manera
- 期刊名称：《Journal of neuromuscular diseases.》 | 2016年第2期
- Bethlem disease;
- collagen VI deficiency;
- muscle dystrophy;
- muscle MRI;
- Ulrich disease;
90.Nerve Conduction Studies as a Measure of Disease Progression: Objectivity or Illusion?

机译：神经传导研究作为疾病进展的衡量标准：客观性或幻觉？
- 作者：Lanza Giuseppe;Kosac Ana;Trajkovic Goran;Whittaker Roger G.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第3期
- Nerve conduction studies;
- reproducibility;
- serial measurements;
- technical variability;
- nerve excitability;
91.Advancements in AAV-mediated Gene Therapy for Pompe Disease

机译：AAV介导的POPPE疾病基因治疗的进步
- 作者：Salabarria S.M.;Nair J.;Clement N.;Smith B.K.;Raben N.;Fuller D.D.;Byrne B.J.;Corti M.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第1期
- Pompe disease;
- adeno-associated virus (AAV);
- lysosomes;
- autophagy;
- promoter;
- intravenous;
- intrathecal;
- intramuscular;
- immune-response;
- manufacturing;
92.Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

机译：基于面板的外核紊乱作为诊断服务的神经肌肉疾病测序
- 作者：Westra Dineke;Schouten Meyke I.;Stunnenberg Bas C.;Kusters Benno;Saris Christiaan G.J.;Erasmus Corrie E.;van Engelen Baziel G.;Bulk Saskia;Verschuuren-Bemelmans Corien C.;Gerkes E.H.;de Geus Christa;van der Zwaag P.A.;Chan Sophelia;Chung Brian;Barge-Schaapveld Daniela Q.C.M.;Kriek Marjolein;Sznajer Yves;van Spaendonck-Zwarts Karin;van der Kooi Anneke J.;Krause Amanda;Sch?newolf-Greulich Bitten;de Die-Smulders Christine;Sallevelt Suzanne C.E.H.;Krapels Ingrid P.C.;Rasmussen Magnhild;Maystadt Isabelle;Kievit Anneke J.A.;Witting Nanna;Pennings Maartje;Meijer Rowdy;Gillissen Christian;Kamsteeg Erik-Jan;Voermans Nicol C.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第2期
- Neuromuscular diseases;
- exome sequencing;
- genetics;
- neurology;
- myopathies;
93.Invited Speakers Thursday 4th April 2019--S1: Clinical services for Neuromuscular Disease patients

机译：邀请演讲者2019年4月4日星期四 - S1：神经肌病患者的临床服务
- 作者：Doug Turnbull
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第1期
94.Responsiveness to Change of 5-point MRC scale, Endurance and Functional Evaluation for Assessing Myositis in Daily Clinical Practice

机译：在日常临床实践中，对5点MRC规模的变化，耐久性和功能评估的反应能力
- 作者：Landon-Cardinal Océane;Devilliers Hervé;Chavarot Nathalie;Mariampillai Kuberaka;Rigolet Aude;Hervier Baptiste;Allenbach Yves;Benveniste Olivier
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第1期
- Idiopathic inflammatory myopathies;
- myositis;
- manual muscle testing;
- responsiveness;
- endurance;
- functional evaluation;
- outcome measures;
95.Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase ( GARS) Variants

机译：由于糖基-TRNA合成酶（GARS）变体，一系列八个无关患者的八个无关患者的临床和遗传特征
- 作者：Forrester Natalie;Rattihalli Rohini;Horvath Rita;Maggi Lorenzo;Manzur Adnan;Fuller Geraint;Gutowski Nicholas;Rankin Julia;Dick David;Buxton Christopher;Greenslade Mark;Majumdar Anirban
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
96.Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis

机译：血清的细胞因子分析允许监测包涵体肌炎的疾病进展
- 作者：Badrising Umesh A.;Tsonaka Roula;Hiller Monika;Niks Erik H.;Evangelista Teresinha;Lochmüller Hanns;Verschuuren Jan JGM.;Aartsma-Rus Annemieke;Spitali Pietro
- 期刊名称：《Journal of neuromuscular diseases.》 | 2017年第4期
- Autoimmune diseases;
- muscular diseases;
- neuromuscular diseases;
- biomarker;
97.Laboratory Tests for Neuropathies: What to do and to Avoid

机译：神经病的实验室测试：该怎么做和避免
- 作者：Horlings Corinne G.C.;Rath Jakob;Finsterer Josef;Wanschitz Julia V.;L?scher Wolfgang N.
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第3期
- Neuropathy;
- nerve conduction;
- diagnosis;
- hereditary;
- electromyography;
98.Upregulation of Hallmark Muscle Genes Protects Gne M743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype

机译：高音肌肉基因的上调保护来自肾脏和肌肉表型的GNE M743T / M743T突变敲击小鼠
- 作者：Benyamini Hadar;Kling Yehuda;Yakovlev Lena;Becker Cohen Michal;Nevo Yuval;Elgavish Sharona;Harazi Avi;Argov Zohar;Sela Ilan;Mitrani-Rosenbaum Stella
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- GNE myopathy;
- GNE mouse model;
- HIBM;
- RNA-Seq;
- proteomics;
99.The Slipping Slipper Sign: A Poor Man’s Test for Severe Diabetic Peripheral Neuropathy

机译：滑动拖鞋标志：对严重糖尿病外周神经病变的贫困人体测试
- 作者：Lutchmansingh Khama;Venkatesh Y. Swamy;Boppana Leela Krishna Teja;Seemungal Terence;Rao Ambika;Sandy Sherry;Teelucksingh Surujpal
- 期刊名称：《Journal of neuromuscular diseases.》 | 2020年第2期
- Slipping Slipper Sign;
- Diabetes Mellitus;
- Diabetic Peripheral Neuropathy;
- Screening test;
100.Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study

机译：植物梭伦在长期成人5Q-SMA型3中的安全性和治疗效果3 - 一种预期观察研究
- 作者：Walter Maggie C.;Wenninger Stephan;Thiele Simone;Stauber Julia;Hiebeler Miriam;Greckl Eva;Stahl Kristina;Pechmann Astrid;Lochmüller Hanns;Kirschner Janbernd;Schoser Benedikt
- 期刊名称：《Journal of neuromuscular diseases.》 | 2019年第4期
- Nusinersen;
- spinal muscular atrophy;
- treatment;
- safety;
- prospective observational study;

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