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Diagnostic odyssey of patients with myotonic dystrophy.
Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd. Hilbert JE, et al. Among authors: day jw. J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27. J Neurol. 2013. PMID: 23807151 Free PMC article.
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2).
Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP. Day JW, et al. Neuromuscul Disord. 1999 Jan;9(1):19-27. doi: 10.1016/s0960-8966(98)00094-7. Neuromuscul Disord. 1999. PMID: 10063831
We have recently mapped the disease locus (DM2) in this family to a 10 cM region of chromosome 3q [Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW. Nat Genet 1998;19:196-198]. The genetically distinct form of myotonic dystrophy in the MN1 kindred shares some of …
We have recently mapped the disease locus (DM2) in this family to a 10 cM region of chromosome 3q [Ranum LPW, Rasmussen PF, Benzow KA, Koob …
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
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. Among authors: day jw. Neurology. 2004 Dec 28;63(12):2402-4. doi: 10.1212/01.wnl.0000147335.10783.e4. Neurology. 2004. PMID: 15623712 Review.
Clinical features of facioscapulohumeral muscular dystrophy 2.
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R. de Greef JC, et al. Among authors: day jw. Neurology. 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175. Neurology. 2010. PMID: 20975055 Free PMC article.
215 results