Author Wagner, Matias

1 to 6 of 6 Items
  • 2017 | Journal Article | 
    ​ ​Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum​
    Krenn, M.; Salzer, E.; Simonitsch-Klupp, I.; Rath, J.; Wagner, M.; Haack, T. B. & Strom, T. M. et al.​ (2017) 
    Journal of Neurology, 265(2) pp. 394​-401​.​ DOI: https://doi.org/10.1007/s00415-017-8710-x 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility​
    Ascari, G.; Peelman, F.; Farinelli, P.; Rosseel, T.; Lambrechts, N.; Wunderlich, K. A. & Wagner, M. et al.​ (2020) 
    Human Mutation, 41(5) pp. 998​-1011​.​ DOI: https://doi.org/10.1002/humu.23993 
    ​Details  DOI 
  • 2021 | Journal Article
    ​ ​Clinically relevant copy-number variants in exome sequencing data of patients with dystonia​
    Zech, M.; Boesch, S.; Škorvánek, M.; Necpál, J.; Švantnerová, J.; Wagner, M. & Dincer, Y. et al.​ (2021) 
    Parkinsonism & Related Disorders, 84 pp. 129​-134​.​ DOI: https://doi.org/10.1016/j.parkreldis.2021.02.013 
    ​Details  DOI 
  • 2021 | Journal Article
    ​ ​Blood DNA methylation provides an accurate biomarker of KMT2B -related dystonia and predicts onset​
    Mirza-Schreiber, N.; Zech, M.; Wilson, R.; Brunet, T.; Wagner, M.; Jech, R. & Boesch, S. et al.​ (2021) 
    Brain,.​ DOI: https://doi.org/10.1093/brain/awab360 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper
    ​ ​Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes​
    Yap, Z. Y.; Park, Y. H.; Wortmann, S. B.; Gunning, A. C.; Ezer, S.; Lee, S. & Duraine, L. et al.​ (2021) 
    Genome Medicine, 13(1) art. 55​.​ DOI: https://doi.org/10.1186/s13073-021-00873-3 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Clinico-genetic findings in 509 frontotemporal dementia patients​
    Wagner, M.; Lorenz, G.; Volk, A. E.; Brunet, T.; Edbauer, D.; Berutti, R. & Zhao, C. et al.​ (2021) 
    Molecular Psychiatry, 26(10) pp. 5824​-5832​.​ DOI: https://doi.org/10.1038/s41380-021-01271-2 
    ​Details  DOI  PMID  PMC 

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Göttingen All

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