News

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...

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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)...

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Foundation grant success for the Lochmüller Lab!

We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD)...

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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...

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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...

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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...

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PhD Viva Success

We are delighted to announce the success of one of Hanns’s UK students. Emily O’Connor, jointly supervised...

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Double PhD Viva Success

We are thrilled to announce the success of two of Hanns’s UK students. Grace McMacken and Rachel...

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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...

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Lochmüller Lab in the annual Cycle for CHEO

On May 5th, Lochmüller lab & Friends completed the annual Cycle for CHEO ride in Ottawa. They...

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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...

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Girl with SMA takes selfie with her brother

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...

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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...

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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...

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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)...

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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...

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Conference Announcement

The speakers and dates for the 5th Ottawa International Conference on Neuromuscular Disease & Biology have been announced....

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Participants at the 237th ENMC workshop on GNE myopathy

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...

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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...

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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...

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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)...

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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...

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Shared decision-making

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...

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