Latest edition of the Journal of Neuromuscular Diseases now online – Apr 2020
Published: 14 April 2020
A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:
Journal of Neuromuscular Diseases: Volume 7, issue 2
*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:
- Pseudoexons of the DMD gene
- Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2
- Relationship between eating and digestive symptoms and respiratory function in advanced Duchenne muscular dystrophy patients
- Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening – Opportunity or burden?
- Upregulation of hallmark muscle genes protects Gne M743T/M743T mutated knock-in mice from kidney and muscle phenotype
- Clinical and genetic features in a series of eight unrelated patients with neuropathy due to Glycyl-tRNA Synthetase (GARS) variants
- RESTORE: A prospective multinational registry of patients with genetically confirmed spinal muscular atrophy – Rationale and study design
- Improved criteria for the classification of titin variants in inherited skeletal myopathies
- Characterizing enrollment in observational studies of Duchenne muscular dystrophy by race and ethnicity
- The slipping slipper sign: A poor man’s test for severe diabetic peripheral neuropathy
- Scoliosis surgery significantly impacts motor abilities in higher-functioning individuals with spinal muscular atrophy
- Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review
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...