News
New Publication: Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
We were pleased to collaborate with colleagues in the UK, India, Germany, and Spain on this brief...
Conference Announcement: MITO2019 in Toronto 8-9th Nov
MITO2019 is the annual meeting for mitoNET and the MitoCanada Foundation and serves as the main education...
A new arrival accompanied by a new publication
The Lochmüller lab is pleased to welcome Dr. Emily O’Connor to the group in Ottawa. Emily marked...
New Publication: Analysis of the functional capacity outcome measures for myotonic dystrophy
Being able to accurately and reliably asses functional capacity in people with myotonic dystrophy type 1 (DM1)...
Foundation grant success for the Lochmüller Lab!
We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD)...
New publication: De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
Patients with long-term, complex conditions like neuromuscular diseases may receive diagnosis, care and treatment in several different...
New publication: Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
How can we use phenotypic descriptions to aid genetic diagnosis starting with hundreds of rare variants from...
Hanns Lochmüller is awarded prestigious Tier 1 Canada Research Chair in neuromuscular genomics and health
We are thrilled to announce that Hanns has been awarded a Canada Research Chair (CRC) in Neuromuscular...
PhD Viva Success
We are delighted to announce the success of one of Hanns’s UK students. Emily O’Connor, jointly supervised...
New publication: “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease
The 2018 ENMC workshop on shared decision-making has resulted in a second valuable publication on the importance...
Double PhD Viva Success
We are thrilled to announce the success of two of Hanns’s UK students. Grace McMacken and Rachel...
New publication: The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
We were pleased to be part of this collaborative effort spearheaded by Pedro M. Rodrıguez Cruz and...
Lochmüller Lab in the annual Cycle for CHEO
On May 5th, Lochmüller lab & Friends completed the annual Cycle for CHEO ride in Ottawa. They...
Support 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)...