Author Wagner, Matias
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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
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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
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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
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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
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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
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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
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