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Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1).
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. Pennacchio LA, et al. Among authors: koskiniemi m. Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731. Science. 1996. PMID: 8596935
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, de la Chapelle A. Lehesjoki AE, et al. Among authors: koskiniemi m. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3696-9. doi: 10.1073/pnas.88.9.3696. Proc Natl Acad Sci U S A. 1991. PMID: 1673790 Free PMC article.
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE. Virtaneva K, et al. Among authors: koskiniemi m. Nat Genet. 1997 Apr;15(4):393-6. doi: 10.1038/ng0497-393. Nat Genet. 1997. PMID: 9090386
Progressive myoclonus epilepsy of Unverricht-Lundborg type.
Lehesjoki AE, Koskiniemi M. Lehesjoki AE, et al. Among authors: koskiniemi m. Epilepsia. 1999;40 Suppl 3:23-8. doi: 10.1111/j.1528-1157.1999.tb00895.x. Epilepsia. 1999. PMID: 10446747 Free article. Review.
131 results