Ranum LP - Search Results

1

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Chung MY, et al. Among authors: ranum lp. Nat Genet. 1993 Nov;5(3):254-8. doi: 10.1038/ng1193-254. Nat Genet. 1993. PMID: 8275090

2

Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.

Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ŁJ, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS. Nutter CA, et al. Among authors: ranum lpw. Brain. 2023 Oct 3;146(10):4217-4232. doi: 10.1093/brain/awad148. Brain. 2023. PMID: 37143315 Free PMC article.

3

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

Ranum LP, Duvick LA, Rich SS, Schut LJ, Litt M, Orr HT. Ranum LP, et al. Am J Hum Genet. 1991 Jul;49(1):31-41. Am J Hum Genet. 1991. PMID: 1676561 Free PMC article.

4

Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred.

Ranum LP, Rich SS, Nance MA, Duvick LA, Aita JF, Orr HT, Anton-Johnson S, Schut LJ. Ranum LP, et al. Neurology. 1992 Feb;42(2):344-7. doi: 10.1212/wnl.42.2.344. Neurology. 1992. PMID: 1736163

5

Dinucleotide repeat polymorphism at the D6S109 locus.

Ranum LP, Chung MY, Duvick LA, Zoghbi HY, Orr HT. Ranum LP, et al. Nucleic Acids Res. 1991 Mar 11;19(5):1171. doi: 10.1093/nar/19.5.1171-a. Nucleic Acids Res. 1991. PMID: 2020562 Free PMC article. No abstract available.

6

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.

Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT. Ranum LP, et al. Am J Hum Genet. 1995 Sep;57(3):603-8. Am J Hum Genet. 1995. PMID: 7668288 Free PMC article.

7

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Ranum LP, et al. Nat Genet. 1994 Nov;8(3):280-4. doi: 10.1038/ng1194-280. Nat Genet. 1994. PMID: 7874171

8

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L, et al. Ranum LP, et al. Am J Hum Genet. 1994 Aug;55(2):244-52. Am J Hum Genet. 1994. PMID: 8037204 Free PMC article.

9

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.

Banfi S, Chung MY, Kwiatkowski TJ Jr, Ranum LP, McCall AE, Chinault AC, Orr HT, Zoghbi HY. Banfi S, et al. Among authors: ranum lp. Genomics. 1993 Dec;18(3):627-35. doi: 10.1016/s0888-7543(05)80365-9. Genomics. 1993. PMID: 8307572

10

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. Among authors: ranum lp. Nat Genet. 1993 Jul;4(3):221-6. doi: 10.1038/ng0793-221. Nat Genet. 1993. PMID: 8358429

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