Schut LJ - Search Results

1

CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.

Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, Hasholt LF, Nielsen JE, Subramony SH, Ranum LP. Perez BA, et al. Among authors: schut lj. EMBO Mol Med. 2021 Nov 8;13(11):e14095. doi: 10.15252/emmm.202114095. Epub 2021 Oct 11. EMBO Mol Med. 2021. PMID: 34632710 Free PMC article.

2

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. Among authors: schut lj. Am J Hum Genet. 1995 Sep;57(3):603-8. Am J Hum Genet. 1995. PMID: 7668288 Free PMC article.

3

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.

Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP. Moseley ML, et al. Among authors: schut lj. Hum Mol Genet. 2000 Sep 1;9(14):2125-30. doi: 10.1093/hmg/9.14.2125. Hum Mol Genet. 2000. PMID: 10958651

4

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. Among authors: schut lj. Am J Hum Genet. 1994 Aug;55(2):244-52. Am J Hum Genet. 1994. PMID: 8037204 Free PMC article.

5

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.

Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, Blindauer KA, Labuda M, Pandolfo M, Koob MD, Ranum LP. Moseley ML, et al. Among authors: schut lj. Neurology. 1998 Dec;51(6):1666-71. doi: 10.1212/wnl.51.6.1666. Neurology. 1998. PMID: 9855520

6

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8).

Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. Koob MD, et al. Among authors: schut lj. Nat Genet. 1999 Apr;21(4):379-84. doi: 10.1038/7710. Nat Genet. 1999. PMID: 10192387

7

Spectrin mutations cause spinocerebellar ataxia type 5.

Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Ikeda Y, et al. Among authors: schut lj. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429157

8

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. Among authors: schut lj. Nat Genet. 1994 Nov;8(3):280-4. doi: 10.1038/ng1194-280. Nat Genet. 1994. PMID: 7874171

9

Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients.

Maurer DJ, Benzow KA, Schut LJ, Ranum LP, Livingston DM. Maurer DJ, et al. Among authors: schut lj. Hum Mutat. 1998;Suppl 1:S74-7. doi: 10.1002/humu.1380110126. Hum Mutat. 1998. PMID: 9452047 No abstract available.

10

Spinocerebellar ataxia type 8: clinical features in a large family.

Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Day JW, et al. Among authors: schut lj. Neurology. 2000 Sep 12;55(5):649-57. doi: 10.1212/wnl.55.5.649. Neurology. 2000. PMID: 10980728

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

54 results

Search Page