Please feel free forward to your colleagues and share the news of our journal | Journal of Neuromuscular Diseases | COVID-19 Statement The current COVID-19 crisis is affecting many lives, and also research initiatives. At the Journal of Neuromuscular Diseases (JND), we are continuing our efforts, working from home where possible, to continue assessing papers for publication to progress advances in neuromuscular research. We appreciate the time and efforts of our editors, authors, and reviewers to make this possible. It is understandable that extensions or reassignments may be needed, in which case we ask you to talk to our editorial staff. If you are self-isolating or staying at home following recommended guidelines and you are considering writing a review article within the specialty of neuromuscular diseases, then we invite you to contact the editorial team by email (jnd@iospress.com) to explore publication. We wish you all strength in these trying times and hope to see you all remain healthy as we move through this. | REVIEW ARTICLE
Pseudoexons of the DMD Gene – Open Access
Keegan, Niall P. SHORT COMMUNICATION
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 – Open Access
Glascock, Jacqueline | Sampson, Jacinda | Connolly, Anne M. | Darras, Basil T. | Day, John W. | Finkel, Richard | et al. RESEARCH ARTICLES
Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients – Open Access
Lee, Jang Woo | Oh, Hyun Jun | Choi, Won Ah | Kim, Dong Jin | Kang, Seong-Woong Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden? – Open Access
Müller-Felber, Wolfgang | Vill, Katharina | Schwartz, Oliver | Gläser, Dieter | Nennstiel, Uta | Wirth, Brunhilde | Burggraf, Siegfried | Röschinger, Wulf | et al. Upregulation of Hallmark Muscle Genes Protects Gne M743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype – Open Access
Benyamini, Hadar | Kling, Yehuda | Yakovlev, Lena | Becker Cohen, Michal | Nevo, Yuval | Elgavish, Sharona | Harazi, Avi | Argov, Zohar | Sela, Ilan | Mitrani-Rosenbaum, Stella Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester, Natalie | Rattihalli, Rohini | Horvath, Rita | Maggi, Lorenzo | Manzur, Adnan | Fuller, Geraint | Gutowski, Nicholas | Rankin, Julia | Dick, David | et al. RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
Finkel, Richard S. | Day, John W. | De Vivo, Darryl C. | Kirschner, Janbernd | Mercuri, Eugenio | Muntoni, Francesco | Shieh, Perry B. | Tizzano, Eduardo | et al. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
Savarese, Marco | Johari, Mridul | Johnson, Katherine | Arumilli, Meharji | Torella, Annalaura | Töpf, Ana | Rubegni, Anna | Kuhn, Marius | Giugliano, Teresa | et al. Characterizing Enrollment in Observational Studies of Duchenne Muscular Dystrophy by Race and Ethnicity
Barnard, Alison M. | Riehl, Samuel L. | Willcocks, Rebecca J. | Walter, Glenn A. | Angell, Amber M. | Vandenborne, Krista The Slipping Slipper Sign: A Poor Man’s Test for Severe Diabetic Peripheral Neuropathy
Lutchmansingh, Khama | Venkatesh, Y. Swamy | Boppana, Leela Krishna Teja | Seemungal, Terence | Rao, Ambika | Sandy, Sherry | Teelucksingh, Surujpal Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy
Dunaway Young, Sally | Montes, Jacqueline | Salazar, Rachel | Glanzman, Allan M. | Pasternak, Amy | Mirek, Elizabeth | Martens, William | Finkel, Richard S. | Darras, Basil T. | De Vivo, Darryl C. CASE REPORT
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review
Taminato, Tomoya | Mori-Yoshimura, Madoka | Miki, Jun | Sasaki, Ryogen | Sato, Noriko | Oya, Yasushi | Nishino, Ichizo | Takahashi, Yuji | Most Read JND Articles in Q1 2020 Listing articles published only in 2019 and 2020 so you can read the most popular recent content Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care – Open Access (Review Article in Vol.7, Iss.1, 2020)
Schorling, David C. | Pechmann, Astrid | Kirschner, Janbernd AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort – Open Access (Research Article in Vol.6, Iss.3, 2019)
Al-Zaidy, Samiah A. | Kolb, Stephen J. | Lowes, Linda | Alfano, Lindsay N. | Shell, Richard | Church, Kathleen R. | Nagendran, Sukumar | Sproule, Douglas M. | et al. Advancements in AAV-mediated Gene Therapy for Pompe Disease – Open Access (Review Article in Vol.7, Iss.1, 2020)
GSalabarria, S.M. | Nair, J. | Clement, N. | Smith, B.K. | Raben, N. | Fuller, D. | Byrne, B.J. | Corti, M. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 – Open Access (Short Communication in Vol.7, Iss.2, 2020)
Glascock, Jacqueline | Sampson, Jacinda | Connolly, Anne M. | Darras, Basil T. | Day, John W. | Finkel, Richard | Howell, R. Rodney | Klinger, Katherine W. | Kuntz, Nancy | et al. Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study – Open Access (Research Article in Vol.6, Iss.4, 2019)
Walter, Maggie C. | Wenninger, Stephan | Thiele, Simone | Stauber, Julia | Hiebeler, Miriam | Greckl, Eva | Stahl, Kristina | Pechmann, Astrid | Lochmüller, Hanns | et al. | The TREAT-NMD Education Committee has added a new endorsement process to complement the range of educational programs that are already provided. TREAT-NMD recognizes the importance of supporting and increasing awareness of other education programmes that are essential for knowledge exchange and learning within the neuromuscular community. All applications will be reviewed by the TREAT-NMD Education Committee which is comprised of world leading experts in the field of neuromuscular disease. Application and endorsement is free of charge. The guidelines and information on how to apply is available on the website here. | Sign Ups & Social Media Help Spread the News of JND! If you know of any colleagues or fellow researchers who are not yet signed up to receive the newsletter, we invite you to share this mailing with them. Click on the sign-up link at the bottom of this email or access here. If you are not yet interacting with JND on social media, why not take the time today to follow us on Twitter and find us on Facebook? Be part of the discussion! |  Indexed in: PubMed/MEDLINE Scopus | Submit your Paper As a member of our research community, we would like to invite you to contribute your own articles to the journal. JND offers contributing authors many benefits, including rigorous peer review and speedy manuscript processing, rapid online publication (pre-press) and an affordable Open Access option (€1250/US$1450). JND is fully compliant with all mandates by major funders, and Open Access articles are automatically uploaded to PubMed Central. More reasons to publish in JND are outlined on the journal's website! Submit your manuscript online via MsTracker
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