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Journal Article
Expert Reviews in Molecular Medicine, ISSN 1462-3994, 04/2016, Volume 18, pp. e7 - e16; e84304; e26820
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2019, Volume 90, Issue 5, pp. 576 - 585
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 6677 - 10
Journal Article
Journal Article
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2018, Volume 89, Issue 5, pp. 506 - 512
BackgroundMutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently,... 
SURGERY | ALPHA-DYSTROGLYCAN | FUKUTIN GENE-MUTATIONS | GENOTYPE | MRI | PSYCHIATRY | CARDIOMYOPATHY | PHENOTYPE | GLYCOSYLATION | CLINICAL NEUROLOGY | Proteins | Walking | Congenital diseases | Disease | Biopsy | Cardiomyopathy | Family medical history | Mutation | Cognitive development | Age | Muscular dystrophy | Siblings
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 2139 - 10
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 01/2020, Volume 7, Issue 1, pp. 126 - 131
Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of... 
CANCER-RISK | OXIDATIVE STRESS | CTG REPEAT | NEUROSCIENCES | CLINICAL NEUROLOGY | AGE | Studies | Oxidative stress | Congenital diseases | Fetuses | Cell division | Kinases | Deoxyribonucleic acid--DNA | Age | Blood | Generalized linear models
Journal Article