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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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