News
Sponsor the Lochmüller Lab in the annual Cycle for CHEO ride!
On May 5th, Lochmüller Lab team members and friends are participating in the annual CN Cycle for...
New publication: quality of life of patients with SMA: a systematic review
Quality of life (QoL) is an important measure to help understand the clinical implications of a disease...
Event: NDF’s 6th Annual Symposium on GNE Myopathy
The Neuromuscular Disease Foundation’s 6th annual symposium and patient day on GNE Myopathy will take place in...
New Publication: Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
While we know some drug treatments can help patients with disruption of the neuromuscular junction (NMJ) we...
New publication: CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
A group of investigators from the Sant Joan de Deu hospital in Barcelona (Carrera, Natera and Nascimento)...
New Publication: MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses
Determining the mechanism behind a disease causing gene is often very difficult, and yet it remains a...
Conference Announcement
The speakers and dates for the 5th Ottawa International Conference on Neuromuscular Disease & Biology have been announced....
New publication: 237th ENMC international workshop: GNE myopathy – current and future research
In the 237th workshop convened by the European Neuromuscular Center (ENMC), clinical experts, researchers and patient representatives...
New publication: Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
We were really pleased to collaborate with the Dominov and Brown labs at the University of Massachusetts Medical...
New publication: disease burden of myotonic dystrophy type 1
Nikoletta Nikolenko and Erik Landfeldt have published a new study on the impact of myotonic dystrophy type...
New publication: Congenital myasthenic syndrome caused by novel COL13A1 mutations
We recently contributed to this important research detailing the discovery of novel COL13A1 mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs)...
New publication: health-related quality of life in myotonic dystrophy type 1 – a systematic review
Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type...
New publication on shared decision-making puts the patient perspective front and centre
How do we ensure patients are involved in neuromuscular research right from its earliest stages? Shared decision-making...
New publication: GNE genotype explains 20% of phenotypic variability in GNE myopathy
A lack of genotype-phenotype correlations in many neuromuscular disorders can make it difficult for doctors to manage...
New publication: Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
Our new publication by Thompson et al on the treatments available for the congenital myasthenic syndromes (CMS) and...
New Publication: A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy
Our most recent paper reporting on a phase 3 international multi-center study (13 sites across 7 countries)...