R
Reijo Norio
Researcher at University of Helsinki
Publications - 53
Citations - 4103
Reijo Norio is an academic researcher from University of Helsinki. The author has contributed to research in topics: Cohen syndrome & VPS13B. The author has an hindex of 33, co-authored 53 publications receiving 3981 citations.
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Journal ArticleDOI
Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
Len A. Pennacchio,Anna-Elina Lehesjoki,Nancy E. Stone,Virginia L. Willour,Kimmo Virtaneva,Jinmin Miao,Elena D'Amato,Lucía Ramírez,Malek Faham,Marjaleena Koskiniemi,Janet A. Warrington,Reijo Norio,Albert de la Chapelle,David R. Cox,Richard M. Myers +14 more
TL;DR: Results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.
Journal ArticleDOI
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
Juha Kolehmainen,Graeme C.M. Black,Graeme C.M. Black,Anne Saarinen,Kate Chandler,Jill Clayton-Smith,Ann-Liz Träskelin,Rahat Perveen,Satu Kivitie-Kallio,Reijo Norio,Mette Warburg,Jean-Pierre Fryns,Albert de la Chapelle,Anna-Elina Lehesjoki +13 more
TL;DR: Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell, and refined the critical region on chromosome 8q22 by haplotype analysis, reports the characterization of a novel gene,COH1, that is mutated in patients with Cohen syndrome.
Journal Article
Hereditary diseases in Finland; rare flora in rare soul.
Journal ArticleDOI
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
Kimmo Virtaneva,Elena D'Amato,Jinmin Miao,Marjaleena Koskiniemi,Reijo Norio,Giuliano Avanzini,Silvana Franceschetti,Roberto Michelucci,Carlo Alberto Tassinari,Salah Omer,Len A. Pennacchio,Richard M. Myers,Jose L. Dieguez-Lucena,Ralf Krahe,Albert de la Chapelle,Anna-Elina Lehesjoki +15 more
TL;DR: A novel type of disease-causing mutation is reported, an unstable 15- to 18-mer minisatellite repeat expansion in the putative promoter region of the CST6 gene, which accounts for the majority of EPM1 patients worldwide.
Journal ArticleDOI
Finnish Disease Heritage I: characteristics, causes, background.
TL;DR: This review of the Finnish Disease Heritage includes the following topics: FDH characteristics, causes and background, primary theory, revis(it)ed theory, consanguineous marriages in Finland, internal migration of the 1500s, family series for further FDH studies, geography and population structure as a basis for FDH.