Please feel free forward to your colleagues and share the news of our journal | Volume 8, Issue 1 / 2020 Now Online REVIEW ARTICLES
Orphan Peripheral Neuropathies – Open Access
Finsterer, Josef | Löscher, Wolfgang N. | Wanschitz, Julia | Iglseder, Stefan Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy – Open Access
Cappella, Marisa | Pradat, Pierre-François | Querin, Giorgia | Biferi, Maria Grazia Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy – Open Access
Quattrocelli, Mattia | Zelikovich, Aaron S. | Salamone, Isabella M. | Fischer, Julie A. | McNally, Elizabeth M. RESEARCH ARTICLES
The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry – Open Access
Hodgkinson, V. | Lounsberry, J. | M’Dahoma, S. | Russell, A. | Jewett, G. | Benstead, T. | Brais, B. | Campbell, C. | Johnston, W. | Lochmüller, H. | McCormick, A. | Nguyen, C. T. | O’Ferrall, E. | et al. Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance – Open Access
Duong, Tina | Harding, Gale | Mannix, Sally | Abel, Cristina | Phillips, Dawn | Alfano, Lindsay N. | Bönnemann, Carsten G. | Lilien, Charlotte | Lowes, Linda P. | Servais, Laurent | et al. Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience – Open Access
Gangfuss, Andrea | Schmitt, Dirk | Roos, Andreas | Braun, Frederik | Annoussamy, Melanie | Servais, Laurent | Schara-Schmidt, Ulrike Photovoice as a Participatory Research Tool in Amyotrophic Lateral Sclerosis
Gunton, Adrianna | Hansen, Gregory | Schellenberg, Kerri Lynn Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience
Mendonça, Rodrigo H. | Polido, Graziela J. | Matsui Jr. , Ciro | Silva, André M.S. | Solla, Davi J.F. | Reed, Umbertina C. | Zanoteli, Edmar The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy – Open Access
Belter, Lisa | Jarecki, Jill | Reyna, Sandra P. | Cruz, Rosangel | Jones, Cynthia C. | Schroth, Mary | O’Toole, Colleen McCarthy | O’Brien, Shannon | Hall, Susan A. | Johnson, Nicole B. | Paradis, A.D. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India
Pathak, Pankaj | Sharma, Mehar Chand | Jha, Pankaj | Sarkar, Chitra | Faruq, Mohammed | Jha, Prerana | Suri, Vaishali | Bhatia, Rohit | Singh, Sumit | Gulati, Sheffali | Husain, Mohammad Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1
Lessard, Isabelle | Gaboury, Sébastien | Gagnon, Cynthia | Bouchard, Kévin | Chapron, Kévin | Lavoie, Mélissa | Lapointe, Patrick | Duchesne, Elise Andersen-Tawil Syndrome Presenting with Complete Heart Block
Suetterlin, Karen | Männikkö, Roope | Flossmann, Enrico | Sud, Richa | Fialho, Doreen | Vivekanandam, Vino | James, Natalie | Gossios, Thomas D | Hanna, Michael G | et al. CASE REPORTS
Vasculitic Peripheral Neuropathy, Differences Between Systemic and Non-Systemic Etiologies: A Case Series and Biopsy Report
Castiglione, J.I. | Marrodan, M. | Alessandro, L. | Taratuto, A.L. | Brand, P. | Nogués, M. | Barroso, F. Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report
Gooneratne, Inuka Kishara | Nandasiri, Shanika | Maxwell, Susan | Webster, Richard | Cossins, Judith | Beeson, David | Gunaratne, Kamal | Herath, Lalinka | Senanayake, Sunethra | Chang, T. | A special issue of JND is planned entitled "Terence Partridge: A Distinguished Career Dedicated to Muscle Research"
An upcoming JND special issue will celebrate the distinguished career of Prof. Terence Partridge in the field of myogenesis and skeletal muscle diseases. It will aim to highlight the significant contributions Prof. Terry Partridge has made to the field of muscle biology both through his own discoveries over half a century and the exceptional trainees that he has produced over this period. Submissions will be a tribute to his contributions and will help lead the way towards future growth in this field. If you have been affiliated with Prof. Partridge and would like to participate in this special issue, then we invite you to contribute a primary research article to this special edition. Anyone interested in submitting should first get in touch to outline the submission topic so the editors can assess whether the paper will fit the scope of the journal. Submission deadline: 31 March 2021
Contact: Jyoti Jaiswal or Kanneboyina Nagaraju (details available via the link below) | Special issue dedicated to studies where the results do not support the intervention tested and yet generate very useful data for the field Testing if a hypotheses is correct or not is the way science advances, but pressure to publish has resulted in researchers preferentially publishing studies that disprove the null hypothesis: reporting on an effect is much more common than a lack of it. This is particularly evident in translational research, where potential therapies are evaluated in model systems or patients. The neuromuscular field is aware of a publication bias towards therapeutic approaches that appear to have beneficial effects in model systems and patients. Failure to publish studies where therapies are not beneficial, toxic or results are not reproducible, not only impedes science and therapy development, it also leads to unnecessary duplication of efforts and a waste of resources. An upcoming special issue of JND on this topic will be dedicated to those studies where results were not as anticipated or hoped for. Open Access fees for articles related to dystrophinopathies will be covered by World Duchenne Organisation and some of these publications may be eligible for awards. Submission deadline: 1 March 2021
Contact: Annemieke Aartsma-Rus (details available via the link below) | Most Read JND Articles in 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. Molecular Mechanisms of Skeletal Muscle Hypertrophy – Open Access (Review Article in pre-press, 2020)
Schiaffino, Stefano | Reggiani, Carlo | Akimoto, Takayuki | Blaauw, Bert Advancements in AAV-mediated Gene Therapy for Pompe Disease – Open Access (Review Article in Vol.7, Iss.1, 2020)
Salabarria, S.M. | Nair, J. | Clement, N. | Smith, B.K. | Raben, N. | Fuller, D.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, M.C. | Wenninger, Stephan | Thiele, Simone | Julia | Hiebeler, Miriam | Greckl, Eva | Stahl, Kristina | Pechmann, Astrid | Lochmüller, Hanns | Kirschner, Janbernd | Schoser, Benedikt | TREAT-NMD News The TREAT-NMD 2021 European LGMD Masterclass will be delivered virtually on April 29 and 30, 2021. The limb–girdle muscular dystrophy (LGMD) expert masterclass, which was originally scheduled to be held as an in-person event in Barcelona, will now be online using our interactive virtual conferencing software. | The event will be co-hosted by Jordi Díaz-Manera, Professor of Neuromuscular Disorders Newcastle University and as Honorary Consultant Clinical Geneticist with the Newcastle Hospitals NHS Foundation Trust and Michela Guglieri, MD, a Senior Clinical Lecturer and Consultant Neurologist at Newcastle University and Newcastle Hospitals NHS Foundation Trust. Over the course of the two days, there will be a total of 13 webinar lectures will be delivered, with Q&A opportunities and two interactive workshops on: Physiotherapy and other Clinical Care Considerations; and Exemplary Clinical Cases. Applicants wishing to attend should get in touch. The event is open to healthcare providers from across Europe who diagnose or manage the care of patients with LGMD. Places are strictly limited, so don't hesitate in applying! For further details, visit 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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