Please feel free forward to your colleagues and share the news of our journal | REVIEW ARTICLES
Towards Central Nervous System Involvement in Adults with Hereditary Myopathies – Open Access
Reimann, Jens | Kornblum, Cornelia Induction of Skeletal Muscle Progenitors and Stem Cells from human induced Pluripotent Stem Cells – Open Access
Sato, Takahiko RESEARCH ARTICLES
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study
Batra, Abhinandan | Lott, Donovan J. | Willcocks, Rebecca | Forbes, Sean C. | Triplett, William | Dastgir, Jahannaz | Yun, Pomi | Reghan Foley, A. | Bönnemann, Carsten G. | et al. Ganglionopathies Associated with MERRF Syndrome: An Original Report
Michaud, Maud | Stojkovic, Tanya | Maisonobe, Thierry | Behin, Anthony | Rucheton, Benoit | Léonard-Louis, Sarah | Eymard, Bruno | Laforêt, Pascal Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report
Mori-Yoshimura, Madoka | Oya, Yasushi | Komaki, Hirohumi | Segawa, Kazuhiko | Minami, Narihiro | Saito, Yuko | Nishino, Ichizo | Takahashi, Yuji Decision-Making And Selection Bias in Four Observational Studies on Duchenne and Becker Muscular Dystrophy
Naarding, Karin J. | Doorenweerd, Nathalie | Koeks, Zaïda | Hendriksen, Ruben G.F. | Chotkan, Kinita A. | Krom, Yvonne D. | de Groot, Imelda J.M. | Straathof, Chiara S. | Niks, Erik H. | Kan, Hermien E. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
Vázquez, José | Lefeuvre, Claire | Escobar, Rosa Elena | Luna Angulo, Alexandra Berenice | Miranda Duarte, Antonio | Delia Hernandez, Alma | Brisset, Marion | Carlier, Robert-Yves | et al. Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children
Aguerre, V. | De Castro, F. | Mozzoni, J. | Gravina, LP. | Araoz, HV. | Monges, S. Neuroanatomical Models of Muscle Strength and Relationship to Ambulatory Function in Spinal Muscular Atrophy
Rodriguez-Torres, Rafael | Fabiano, Julia | Goodwin, Ashley | Rao, Ashwini K. | Kinirons, Stacy | De Vivo, Darryl | Montes, Jacqueline Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design – Open Access
Houwen-van Opstal, S.L.S. | van den Elzen, Y.M.E.M. | Jansen, M. | Willemsen, M.A.A.P. | Cup, E.H.C. | De Groot, I.J.M. | 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. We now seek papers for a special issue on this topic, dedicated to those studies where results were not as anticipated or hoped for. The World Duchenne Organisation (WDO) has generously offered to cover Open Access fees for publications related to dystrophinopathies in this special issue due to sponsorship of Parent Project Muscular Dystrophy (PPMD) and Duchenne Parent Project Netherlands. WDO will select some of these publications for further awards. Contact: Annemieke Aartsma-Rus (details available via the link below) More details here (PDF link) | Most Read JND Articles in August 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. COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful Outcome – Open Access (Case Report in Vol.7, Iss.3, 2020)
Ramaswamy, Swathi Beladakere | Govindarajan, Raghav A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs – Open Access (Research Article in Vol.6, Iss.4, 2019)
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. | 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. One Year of Newborn Screening for SMA – Results of a German Pilot Project – Open Access (Research 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. | The Spinal Muscular Atrophy (SMA) Outcome Measure Library has been developed as a quick reference tool to help patient registries in the TREAT-NMD Network choose and implement the right outcome measures for their patients. The TREAT-NMD SMA Dataset team has produced this reference tool, which includes all validated outcome measures currently in use for SMA. The aim of this resource is to support independent decision-making on which outcome measure is most suitable for the individual being assessed. Users of the Outcome Measure Library are welcome to provide feedback on its usefulness, any missing information or any additional outcome measures or PROMS, used for SMA, that should be included. Feedback can be provided by completing this online feedback form. The Outcome Measure Library is publicly available on the TREAT-NMD website. | Oct 29–Nov 1, 2020 | Online The 14th World Congress on Controversies in Neurology (CONy), which was due to take place in London earlier this year but had to be postponed due to the current pandemic, has now transitioned to a virtual event. A fully online conference across 4 days will start on October 29, 2020. CONy's virtual platform will see delegates engaging with the industry, expanding knowledge, and broadening the learning opportunities in an online environment. Plus, the organizers are offering free registration for all! Get further information and program details at the event 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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