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Matias Wagner

Physician

matias@wagner-mchn.de

Entenbachstraße 51
Munich
Germany
81541


I’m a physician with special interest in neurology and neuromuscular disorders currently located in Munich, Germany. I have just finished my Medical Education at the Ludwig-Maximilian Universty in Munich and am writing my doctoral thesis I began in Newcastle.

I spent a year at Newcastle in the lab of Professor Hanns Lochmüller where I wanted to identif the underlying genetic cause of oculopharyngodistal myopathy an inherited muscle condition with patients from across the globe. I used linkage analysis and recombinant haplotype reconstruction to map the disease locus and whole exome sequencing to further investigate these patients.  Additionally, I proofed the pathogenicity of a novel splice-site mutation in the GAA gene causing Pompe disease and attended clinics as a medical student.

Publication

Wagner, Matias et al. “Presymptomatic late-onset Pompe disease identied by the dried blood spot test”. Neuromuscular Disorders 23.1 (2013), pp. 89-92. 

This is my first publication (and is therefore my most important paper!) and was written during my stay in Newcastle.  

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