January 2022 Issue of the Journal of Neuromuscular Diseases Available Online
Published: 19 January 2022
The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its first issue of 2022!
In Volume 9, Issue 1 of the JND almost half of all the articles are open access, with this latest issue containing a range of reviews and research papers.
Of note for the Lochmüller Lab is the publication Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation from Dr. Shahyan Siddiqui, on which Dr. Hanns Lochmüller and postdoc Dr. Kiran Polavarapu are co-authors.
Read next...
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...
uOttawa Eric Poulin Centre for Neuromuscular Disease Celebrates 25 Years of Neuromuscular Research
New co-directors Dr Mireille Khacho and Dr Hanns Lochmüller begin their tenure On November 25th the University of Ottawa Eric Poulin Centre for Neuromuscular Disease...
