January 2022 Issue of the Journal of Neuromuscular Diseases Available Online

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.

JND_V9-i1

Read next...

researcher of the year 2025

Dr. Hanns Lochmüller Awarded “Clinical Researcher of the Year” by University of Ottawa Faculty of Medicine

We are thrilled to announce that Dr. Hanns Lochmüller has been awarded the Clinical Researcher of the Year Award by the University of Ottawa Faculty...
Holland study

New Publication: Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice

Congenital Myasthenic Syndromes (CMS) are a group of rare inherited neuromuscular disorders caused by genetic defects at the neuromuscular junction (NMJ). Patients with CMS experience...
award winners

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...
New publication - RTD (2)

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...
McMillan smart study (1)

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...
Text reading: Solve-RD publication: Solve-RD flagship publication: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Photos of Dr Kiran Polavarapu, Dr Rachel Thompson, Dr Hanns Lochmüller.

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...