Please feel free forward to your colleagues and share the news of our journal | REVIEW ARTICLES
Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care – Open Access
Schorling, David C. | Pechmann, Astrid | Kirschner, Janbernd Advancements in AAV-mediated Gene Therapy for Pompe Disease – Open Access
Salabarria, S.M. | Nair, J. | Clement, N. | Smith, B.K. | Raben, N. | Fuller, D.D. | Byrne, B.J. | Corti, M. RESEARCH ARTICLES
Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort – Open Access
Jones, Cynthia C. | Cook, Suzanne F. | Jarecki, Jill | Belter, Lisa | Reyna, Sandra P. | Staropoli, John | Farwell, Wildon | Hobby, Kenneth Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1
Pechmann, Astrid | Baumann, Matthias | Bernert, Günther | Flotats-Bastardas, Marina | Gruber-Sedlmayr, Ursula | von der Hagen, Maja | Hasselmann, Oswald | et al. Dysautonomia as the Presenting Symptom in Anti-Muscle-Specific Kinase Antibody Myasthenia Gravis – Openly Available
Bekooij, T.J.S. | Gilhuis, H.J. | Dawson, L. | Niks, E.H. Friedreich’s Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance
Mavrogeni, Sophie | Giannakopoulou, Aikaterini | Katsalouli, Marina | Pons, Roser Maria | Papavasiliou, Antigoni | Kolovou, Genovefa | Noutsias, Michel | et al. CASE REPORT
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
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 | 2nd International Conference on Imaging in Neuromuscular Disease Meeting Abstracts Available – Open Access | The 2019 Imaging in Neuromuscular Disease conference was held in Berlin, Germany in November. Coinciding with the event, the abstracts of the meeting were published as a supplement to JND. This issue is freely available to read, download and share. The content covers a wide spectrum of new imaging applications in neuromuscular diseases. To access the PDF of abstracts, go here. | Most Read JND Articles in 2019 Listing articles published only in 2018 and 2019 so you can read the most popular recent content Current Classification and Management of Inflammatory Myopathies – Open Access (Review Article in Vol.5, Iss.2, 2018)
Schmidt, Jens 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. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening – Open Access (Research Article in Vol.5, Iss.2, 2018)
Glascock, Jacqueline | Sampson, Jacinda | Haidet-Phillips, Amanda | Connolly, Anne | Darras, Basil | Day, John | Finkel, Richard | Howell, R. Rodney | et al. Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy – Open Access (Research Article in Vol.6, Iss.2, 2019)
Khan, Navid | Eliopoulos, Helen | Han, Lixin | Kinane, T. Bernard | Lowes, Linda P. | Mendell, Jerry R. | Gordish-Dressman, Heather | Henricson, Erik K. | 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 Advisory Committee for Therapeutics (TACT) has an aim to provide advice on the position of potential therapies along a realistic pathway to clinical trials and registration by evaluating preclinical data, as well as drug development considerations and clinical trial design in order to de-risk the translational study and generate meaningful clinical data. The next TACT review meeting will take place in Bari, Italy. The meeting commences April 25, 2020 and applications are invited for advice for this meeting, from stakeholders across the neuromuscular community involved in therapy development. These could be from industry or academic-led groups. TACT considers applications for all neuromuscular diseases. For more details, visit the TREAT-NMD 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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