Subramony SH - 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: subramony sh. 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

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: subramony sh. Am J Hum Genet. 1994 Aug;55(2):244-52. Am J Hum Genet. 1994. PMID: 8037204 Free PMC article.

3

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Zhuchenko O, et al. Among authors: subramony sh. Nat Genet. 1997 Jan;15(1):62-9. doi: 10.1038/ng0197-62. Nat Genet. 1997. PMID: 8988170

4

What is Kearns-Sayre syndrome after all?

Ashizawa T, Subramony SH. Ashizawa T, et al. Among authors: subramony sh. Arch Neurol. 2001 Jul;58(7):1053-4. doi: 10.1001/archneur.58.7.1053. Arch Neurol. 2001. PMID: 11448292 No abstract available.

5

Dominantly inherited ataxias.

Gomez CM, Subramony SH. Gomez CM, et al. Among authors: subramony sh. Semin Pediatr Neurol. 2003 Sep;10(3):210-22. doi: 10.1016/s1071-9091(03)00030-5. Semin Pediatr Neurol. 2003. PMID: 14653409 Review.

6

Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.

Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM. Subramony SH, et al. Ann Neurol. 2003 Dec;54(6):725-31. doi: 10.1002/ana.10756. Ann Neurol. 2003. PMID: 14681882

7

Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.

Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. Maschke M, et al. Among authors: subramony sh. Mov Disord. 2005 Nov;20(11):1405-12. doi: 10.1002/mds.20533. Mov Disord. 2005. PMID: 16037936

8

Antioxidant use in Friedreich ataxia.

Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR. Myers L, et al. Among authors: subramony sh. J Neurol Sci. 2008 Apr 15;267(1-2):174-6. doi: 10.1016/j.jns.2007.10.008. Epub 2007 Nov 7. J Neurol Sci. 2008. PMID: 17988688 Free PMC article. Clinical Trial.

9

Health related quality of life measures in Friedreich Ataxia.

Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. Epstein E, et al. Among authors: subramony sh. J Neurol Sci. 2008 Sep 15;272(1-2):123-8. doi: 10.1016/j.jns.2008.05.009. Epub 2008 Jun 20. J Neurol Sci. 2008. PMID: 18571673

10

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.

Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. Friedman LS, et al. Among authors: subramony sh. Mov Disord. 2010 Mar 15;25(4):426-32. doi: 10.1002/mds.22912. Mov Disord. 2010. PMID: 20063431 Free PMC article.

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