Perlman SL - Search Results

1

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. Galea CA, et al. Among authors: perlman sl. Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595. Ann Neurol. 2016. PMID: 26704351

2

Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.

Geschwind DH, Perlman S, Grody WW, Telatar M, Montermini L, Pandolfo M, Gatti RA. Geschwind DH, et al. Neurology. 1997 Oct;49(4):1004-9. doi: 10.1212/wnl.49.4.1004. Neurology. 1997. PMID: 9339680

3

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Gomez CM, et al. Among authors: perlman sl. Ann Neurol. 1997 Dec;42(6):933-50. doi: 10.1002/ana.410420616. Ann Neurol. 1997. PMID: 9403487

4

SCA8 repeat expansions in ataxia: a controversial association.

Sobrido MJ, Cholfin JA, Perlman S, Pulst SM, Geschwind DH. Sobrido MJ, et al. Neurology. 2001 Oct 9;57(7):1310-2. doi: 10.1212/wnl.57.7.1310. Neurology. 2001. PMID: 11591855

5

The SCA12 mutation as a rare cause of spinocerebellar ataxia.

Cholfin JA, Sobrido MJ, Perlman S, Pulst SM, Geschwind DH. Cholfin JA, et al. Arch Neurol. 2001 Nov;58(11):1833-5. doi: 10.1001/archneur.58.11.1833. Arch Neurol. 2001. PMID: 11708992

6

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.

Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Bhidayasiri R, et al. Among authors: perlman sl. Arch Neurol. 2005 Dec;62(12):1865-9. doi: 10.1001/archneur.62.12.1865. Arch Neurol. 2005. PMID: 16344344

7

Measuring Friedreich ataxia: complementary features of examination and performance measures.

Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ. Lynch DR, et al. Neurology. 2006 Jun 13;66(11):1711-6. doi: 10.1212/01.wnl.0000218155.46739.90. Neurology. 2006. PMID: 16769945 Clinical Trial.

8

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Fogel BL, Perlman S. Fogel BL, et al. Neurology. 2006 Dec 12;67(11):2083-4. doi: 10.1212/01.wnl.0000247661.19601.28. Neurology. 2006. PMID: 17159128 No abstract available.

9

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Fogel BL, Perlman S. Fogel BL, et al. Lancet Neurol. 2007 Mar;6(3):245-57. doi: 10.1016/S1474-4422(07)70054-6. Lancet Neurol. 2007. PMID: 17303531 Review.

10

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: perlman sl. 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.

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