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Volume 7, Issue 3 / 2020 Now Available Online

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?Open Access
Savarese, Marco | Välipakka, Salla | Johari, Mridul | Hackman, Peter | Udd, Bjarne

COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful OutcomeOpen Access
Ramaswamy, Swathi Beladakere | Govindarajan, Raghav

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 dystrophyOpen 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 SeriesOpen 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 WeaknessOpen 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.

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JND News

Recent press release relating to JND content

Treat Early or Wait? Experts Ponder Best Way to Manage Milder Forms of Spinal Muscular Atrophy

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

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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 CohortOpen 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 CareOpen 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 dystrophyOpen 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 ProjectOpen 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 StudyOpen 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 SMN2Open 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.

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TREAT-NMD Executive Committee

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.

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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!

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