Please feel free forward to your colleagues and share the news of our journal | REVIEW ARTICLE Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? – Open Access Savarese, Marco | Välipakka, Salla | Johari, Mridul | Hackman, Peter | Udd, Bjarne CASE REPORT COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful Outcome – Open Access Ramaswamy, Swathi Beladakere | Govindarajan, Raghav RESEARCH ARTICLES Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review Waldrop, Megan A. | Yaou, Rabah Ben | Lucas, Karin K. | Martin, Ann S. | O’Rourke, Erin | FILNEMUS | Ferlini, Alessandra | Muntoni, Francesco | Leturcq, France | et al. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy – Open Access Strandberg, Kristin | Ayoglu, Burcu | Roos, Andreas | Reza, Mojgan | Niks, Erik | Signorelli, Mirko | Fasterius, Erik | Pontén, Fredrik | Lochmüller, Hanns | Domingos, Joana | et al. Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years Kekou, Kyriaki | Svingou, Maria | Sofocleous, Christalena | Mourtzi, Niki | Nitsa, Evangelia | Konstantinidis, George | Youroukos, Sotiris | Skiadas, Konstantinos | et al. Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy Yeo, Crystal Jing Jing | Simeone, Sarah D. | Townsend, Elise L. | Zhang, Ren Zhe | Swoboda, Kathryn J. Retrospective Analysis of Eculizumab in Patients with Acetylcholine Receptor Antibody-Negative Myasthenia Gravis: A Case Series – Open Access Datta, Sorabh | Singh, Shivangi | Govindarajan, Raghav Laboratory Tests for Neuropathies: What to do and to Avoid Horlings, Corinne G.C. | Rath, Jakob | Finsterer, Josef | Wanschitz, Julia V. | Löscher, Wolfgang N. Dysphagia and Dysarthria in Children with Neuromuscular Diseases, a Prevalence Study Kooi-van Es, Mieke | Erasmus, Corrie E. | de Swart, Bert J.M. | Voet, Nicoline B.M. | van der Wees, Philip J. | de Groot, Imelda J.M. | van den Engel-Hoek, Lenie | et al. Myasthenia Gravis Impairment Index: Sensitivity for Change in Generalized Muscle Weakness – Open Access de Meel, Robert H.P. | Barnett, Carolina | Bril, Vera | Tannemaat, Martijn R. | Verschuuren, Jan J.G.M. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families Oktay, Yavuz | Güngör, Serdal | Zeltner, Lena | Wiethoff, Sarah | Schöls, Ludger | Sonmezler, Ece | Yilmaz, Elmasnur | Munro, Benjamin | Bender, Benjamin | Kernstock, Christoph | et al. | JND News Recent press release relating to JND content | In a recent JND article, German researchers argue for an earlier start of treatment to prevent permanent nerve damage, challenging recommendations originally proposed by a group of American experts that suggests a strict follow-up strategy for children expected to have less severe disease.“Recent advances in the treatment of spinal muscular atrophy argue in favor of newborn screening (NBS) for SMA. While a highly sensitive and specific method exists to detect the most important causative mutation of spinal muscular atrophy, a homozygous deletion of the SMN1 gene, prognosis of the clinical course of the disease remains difficult. The most important disease modifier is the copy number of the SMN2 gene,” explained lead investigator Wolfgang Müller-Felber, MD. Open Access Study: Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden? View the full press release here | Most Read JND Articles in May 2020 Listing articles published only in 2019 and 2020 so you can read the most popular recent content 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. 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 Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy – Open Access (Review Article in Vol.7, Iss.3, 2020) Strandberg, Kristin | Ayoglu, Burcu | Roos, Andreas | Reza, Mojgan | Niks, Erik | Signorelli, Mirko | Fasterius, Erik | Pontén, Fredrik | Lochmüller, Hanns | Domingos, Joana | et al. One Year of Newborn Screening for SMA – Results of a German Pilot Project – Open Access (Review Article in Vol.6, Iss.4, 2019) Vill, Katharina | Kölbel, Heike | Schwartz, Oliver | Blaschek, Astrid | Olgemöller, Bernhard | Harms, Erik | Burggraf, Siegfried | Röschinger, Wulf | Durner, Jürgen | 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. 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; View Press Release) 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. | The TREAT-NMD Alliance Executive Committee has a number of patient representatives, one of whom (Yuriko Odo) reached the end of her term of service recently and her position came up for rotation. Yuriko has been a valued member of the committee since 2015 and the Alliance thanks her for her hard work, dedication, perspective, and invaluable contribution to TREAT-NMD. Voting is now underway to select a new patient representative for the committee. The candidate who gets selected will be: • An individual member of TREAT-NMD; • Actively involved in the activities of a neuromuscular disease patient organisation; or • A neuromuscular disease patient. Voting takes place from mid-June and concludes June 26 at 17:00 (BST). If you have any questions regarding this committee or membership, please contact: info@treat-nmd.org. Read more about the TREAT-NMD Executive Committee 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 View detailed Instructions to Authors Aims and Scope | You are receiving this mailing as you are signed up to receive news from JND. 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