News

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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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...

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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...

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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)...

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The Lochmüller Lab wins CIHR project award!

We are delighted to announce that our project on congenital myasthenic syndromes (CMS) has been funded in...

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New Publication: SMArtCARE – A platform to collect real-life outcome data of patients with spinal muscular atrophy

Our new collaborative publication on the development of a platform to collect real-life longitudinal data on patients with spinal...

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RD-Connect GPAP logo

RD-Connect webinars on data submission and analysis

The Lochmüller Lab submits genomic data to the RD-Connect Genome-Phenome Analysis Platform (GPAP) for diagnosis and gene...

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New Publication: Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C

Our recent publication on Neuromuscular Junction Changes in Charcot-Marie-Tooth Disease Type 4C (CMT4C) is now available online...

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New publication: A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Our new publication on developing a nomenclature for the congenital myasthenic syndromes is now available online at...

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New publication on the latest expansion of the human phenotype ontology

We are delighted to have played a role in this new paper on the continued development and...

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New publication: GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence, and clinical description

Introduction: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is...

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Front cover of the Journal of Neuromuscular Diseases

Latest edition of the Journal of Neuromuscular Diseases now online

The latest edition of the Journal of Neuromuscular Diseases (JND) is available online at the IOS Press...

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Become a member of the RD-Connect Community

RD-Connect, the European rare disease infrastructure project initiated by Hanns Lochmüller in 2012, has launched a new...

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