May 2022 Issue of the Journal of Neuromuscular Diseases Available Online
Published: 10 May 2022
The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its third issue of 2022!
In Volume 9, Issue 3 of the JND almost half of all the articles are open access, with this latest issue containing a range of reviews and research papers.
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...