Latest edition of the Journal of Neuromuscular Diseases now online – Jun 2020
Published: 08 June 2020
A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:
Journal of Neuromuscular Diseases: Volume 7, issue 3
(click to view it at the journal website)
*Hanns is joint editor-in-chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.
Articles in this issue:
- Is gene size an issue for the diagnosis of skeletal muscle disorders?
- Clinical phenotypes of DMD exon 51 skip equivalent deletions: A systematic review
- Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy
- Evaluation of genotypes and epidemiology of spinal muscular atrophy in Greece: A nationwide study spanning 24 years
- Prospective cohort study of nusinersen treatment in adults with spinal muscular atrophy
- Retrospective analysis of exulizumab in partients with acetylcholine receptor antibody-negative myasthenia gravis: A case series
- Laboratory tests for neuropathies: What to do and to avoid
- Dysphagia and dysarthria in children with neuromuscular diseases, a prevalance study
- Myasthenia gravis impairment index: Sensitivity for change in generalized muscle weakness
- Confirmation of TAC01 as a Leigh syndrome disease gene in two additional families
- Carey-Fineman-Ziter syndrome: A MYMK-related myopathy mimicking brainstem dysgensis
- Blood flow to the spleen is altered in a mouse model of spinal muscular atrophy
- Feeding and swallowing problems in infants with spinal muscular atrophy type 1: An observational study
- Assessing physical activity using accelerometers in youth with Duchenne muscular dystrophy
- Rehabilitation following fracture in dystrophinopathy, a case series
- Chronic progressive external ophthalmoplegia due to a rare de novo m.12334G>A MT-TL2 mitochondrial DNA variant
- COVID-19 in refractory myasthenia gravis – A case report of successful outcome
- Myotubular trust – 2020 call for projects (open to international applications)
Read next...
Celebrating Lab Members’ Recent Research Awards
We are thrilled to celebrate Kelly Ho for receiving first place for her poster presentation at this year’s American Society for Pharmacology and Experimental Therapeutics...
Meet The Lochmüller Lab’s Newest Members!
Our research team is growing! We are excited to introduce three new members who have recently joined the Lochmüller lab and several students who will...
New Clinical Study Examines Safety and Efficacy of IV Onasemnogene Abeparvovec in Broad SMA Cohort
Pediatric neurologist Dr Hugh McMillan publishes clinical study examining the safety and efficacy of IV onasemnogene abeparvovec in the broadest cohort of SMA patients to...
Solve-RD flagship publication in Nature Medicine: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Patients and families with rare disorders often remain without a genetic diagnosis despite modern advances in diagnostic testing. Due to the rarity and global distribution...
New Lab Publication Identifies Novel ATP2A2 Variant as Genetic Cause of Dominant Rhabdomyolysis
Rhabdomyolysis is an acute failure of cellular homeostasis characterized by acute skeletal muscle damage triggered by trauma, infection, drugs, or strenuous exercise. Recurrent rhabdomyolysis is...
New Publication: Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish
Riboflavin transporter deficiency (RTD) is a rare genetic disorder in children, characterised by progressive sensorimotor and cranial neuronopathy caused by mutations in riboflavin transporter protein-encoding...