Please feel free forward to your colleagues and share the news of our journal | REVIEW ARTICLES
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens – Open Access
Widrick, Jeffrey J. | Kawahara, Genri | Alexander, Matthew S. | Beggs, Alan H. | Kunkel, Louis M. Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies – Open Access
Schartner, Vanessa | Laporte, Jocelyn | Böhm, Johann ARTICLE COMMENTARY
“The Times They Are a-Changin’.” In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort – Openly Available
Servais, Laurent RESEARCH ARTICLES
AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort – Open Access
Al-Zaidy, Samiah A. | Kolb, Stephen J. | Lowes, Linda | Alfano, Lindsay N. | Shell, Richard | Church, Kathleen R. | Nagendran, Sukumar | Sproule, Douglas M. | Feltner, Douglas E. | Wells, Courtney | Ogrinc, Francis | Menier, Melissa | L’Italien, James | Arnold, W. David | Kissel, John T. | Kaspar, Brian K. | Mendell, Jerry R. Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats – Open Access
van der Plas, Ellen | Hamilton, Mark J. | Miller, Jacob N. | Koscik, Timothy R. | Long, Jeffrey D. | Cumming, Sarah | Povilaikaite, Julija | Farrugia, Maria Elena | McLean, John | Jampana, Ravi | Magnotta, Vincent A. | Gutmann, Laurie | Monckton, Darren G. | Nopoulos, Peggy C. A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks
Prasad, Madhavi | Glueck, Michael | Ceballos-Saenz, Delia | Zapata-Aldana, Eugenio | Johnson, Nicholas | Campbell, Craig | Nguyen, Cam-Tu Emilie Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway – Open Access
Annexstad, Ellen Johanne | Fagerheim, Toril | Holm, Inger | Rasmussen, Magnhild Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy
van der Heul, A.M.B. | Wijngaarde, C.A. | Wadman, R.I. | Asselman, F. | van den Aardweg, M.T.A. | Bartels, B. | Cuppen, I. | Gerrits, E. | van den Berg, L.H. | van der Pol, W. | van den Engel-Hoek, L. Ocular Weakness in Myasthenia Gravis: Changes in Affected Muscles are a Distinct Clinical Feature
de Meel, Robert H.P. | Raadsheer, Wouter F. | van Zwet, Erik W. | Tannemaat, Martijn R. | Verschuuren, Jan J.G.M. CASE REPORTS
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset
Gillespie, Meredith K. | McMillan, Hugh J. | Kernohan, Kristin D. | Pena, Izabella A. | Meyer-Schuman, Rebecca | Care4Rare Canada Consortium | Antonellis, Anthony | Boycott, Kym M. A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy
Bardakjian, Tanya | Scherer, Steven S. SHORT COMMUNICATION
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
Yiş, Uluç | Hiz, Semra | Güneş, Sezgin | Diniz, Gülden | Baydan, Figen | Töpf, Ana | Sonmezler, Ece | Lochmüller, Hanns | Horvath, Rita | Oktay, Yavuz | In the News Recent press releases relating to recent JND content Researchers Identify Potential Modifier Genes in Patients with Charcot-Marie-Tooth Disease Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans. Monogenic disorders like CMT1A, CMT’s most prevalent subtype, are caused by a single gene defect. However, its clinical presentation and severity can vary widely, leading doctors to wonder what factors might be responsible for these differences. A study published in JND reveals that while all patients with CMT1A share a single gene defect, at least four clinical characteristics were found to be associated with secondary modifying genes. Open Access Study:
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study Read the full press release here | New Analysis Shows Drug Slows Down Respiratory Decline in Patients with Duchenne Muscular Dystrophy in Three Clinical Trials Duchenne muscular dystrophy occurs in boys and is characterized by progressive muscle degeneration and weakness leading to a decline in respiratory function. Strategies to arrest this severe progressive deterioration are needed to extend lives and improve quality of life. Results of three clinical trials using eteplirsen, an exon-skipping antisense oligonucleotide, show promising results. Open Access Study:
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy Read the full press release here | Most Read JND Articles in August 2019 Listing articles published only in 2018 and 2019 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. Current Classification and Management of Inflammatory Myopathies – Open Access (Review Article in Vol.5, Iss.2, 2018)
Schmidt, Jens Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway – Open Access (Research Article in Vol.6, Iss.3, 2019)
Annexstad, Ellen Johanne | Fagerheim, Toril | Holm, Inger | Rasmussen, Magnhild Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis – Open Access (Review Article in Vol.6, Iss.2, 2019)
Kapoor, Mahima | Rossor, Alexander M. | Laura, Matilde | Reilly, Mary M. 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. | The TREAT-NMD Executive Committee has elected the new Vice-Chair to be Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands). On her new role Annemieke stated: “I am honored by the confidence of the executive committee members and am keen to help guide TREAT-NMD towards its goals of providing care and treatment to NMD patients around the world.” It was also announced that the new academic representative is Professor Volker Straub (Newcastle University, UK). |  Annamieke Aartsma-Rus and Volker Straub | | Dec 9–11, 2019 | Leiden, the Netherlands The TREAT-NMD Alliance will hold its next international conference in Leiden, the Netherlands in December 2019. The aim of this event is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients. The conference will be an engaging platform for clinical specialists, academics, patients and carers, advocacy organisations, and Industry professionals alike. Registration is now open. Further details available via the conference website. | 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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