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Genetic mapping of a second myotonic dystrophy locus.
Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Ranum LP, et al. Nat Genet. 1998 Jun;19(2):196-8. doi: 10.1038/570. Nat Genet. 1998. PMID: 9620781
Spinocerebellar ataxia type 5.
Dick KA, Ikeda Y, Day JW, Ranum LP. Dick KA, et al. Handb Clin Neurol. 2012;103:451-9. doi: 10.1016/B978-0-444-51892-7.00028-0. Handb Clin Neurol. 2012. PMID: 21827906 Review.
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebellar ataxia (Ranum et al., 1994). The mutation was mapped to the centromeric region of chromosome 11, and the disorder designated …
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocer …
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management.
Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R. Udd B, et al. Neuromuscul Disord. 2006 Jun;16(6):403-13. doi: 10.1016/j.nmd.2006.03.010. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684600 No abstract available.
Insulin receptor splicing alteration in myotonic dystrophy type 2.
Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, Day JW. Savkur RS, et al. Am J Hum Genet. 2004 Jun;74(6):1309-13. doi: 10.1086/421528. Epub 2004 Apr 26. Am J Hum Genet. 2004. PMID: 15114529 Free PMC article.
Sudden cardiac death in myotonic dystrophy type 2.
Schoser BG, Ricker K, Schneider-Gold C, Hengstenberg C, Dürre J, Bültmann B, Kress W, Day JW, Ranum LP. Schoser BG, et al. Neurology. 2004 Dec 28;63(12):2402-4. doi: 10.1212/01.wnl.0000147335.10783.e4. Neurology. 2004. PMID: 15623712 Review.
Dominant non-coding repeat expansions in human disease.
Dick KA, Margolis JM, Day JW, Ranum LPW. Dick KA, et al. Genome Dyn. 2006;1:67-83. doi: 10.1159/000092501. Genome Dyn. 2006. PMID: 18724054 Review.
Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
Mosemiller AK, Dalton JC, Day JW, Ranum LP. Mosemiller AK, et al. Cytogenet Genome Res. 2003;100(1-4):175-83. doi: 10.1159/000072852. Cytogenet Genome Res. 2003. PMID: 14526178 Review.
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Day JW, et al. Neurology. 2003 Feb 25;60(4):657-64. doi: 10.1212/01.wnl.0000054481.84978.f9. Neurology. 2003. PMID: 12601109
Spinocerebellar ataxia type 8: clinical features in a large family.
Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Day JW, et al. Neurology. 2000 Sep 12;55(5):649-57. doi: 10.1212/wnl.55.5.649. Neurology. 2000. PMID: 10980728
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Orr HT, et al. Nat Genet. 1993 Jul;4(3):221-6. doi: 10.1038/ng0793-221. Nat Genet. 1993. PMID: 8358429
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