Perlman SL - Search Results

1

The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, Öz G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD. Selvadurai LP, et al. Among authors: perlman sl. Cerebellum. 2023 Oct;22(5):790-809. doi: 10.1007/s12311-022-01424-1. Epub 2022 Aug 12. Cerebellum. 2023. PMID: 35962273 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. Am J Hum Genet. 1995 Sep;57(3):603-8. Am J Hum Genet. 1995. PMID: 7668288 Free PMC article.

3

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. Geschwind DH, et al. Am J Hum Genet. 1997 Apr;60(4):842-50. Am J Hum Genet. 1997. PMID: 9106530 Free PMC article.

4

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.

Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM. Geschwind DH, et al. Neurology. 1997 Nov;49(5):1247-51. doi: 10.1212/wnl.49.5.1247. Neurology. 1997. PMID: 9371902

5

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

6

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ. Gouw LG, et al. Hum Mol Genet. 1998 Mar;7(3):525-32. doi: 10.1093/hmg/7.3.525. Hum Mol Genet. 1998. PMID: 9467013

7

Oculomotor phenotypes in autosomal dominant ataxias.

Buttner N, Geschwind D, Jen JC, Perlman S, Pulst SM, Baloh RW. Buttner N, et al. Arch Neurol. 1998 Oct;55(10):1353-7. doi: 10.1001/archneur.55.10.1353. Arch Neurol. 1998. PMID: 9779665

8

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

9

Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia.

Figueroa KP, Chan P, Schöls L, Tanner C, Riess O, Perlman SL, Geschwind DH, Pulst SM. Figueroa KP, et al. Among authors: perlman sl. Arch Neurol. 2001 Oct;58(10):1649-53. doi: 10.1001/archneur.58.10.1649. Arch Neurol. 2001. PMID: 11594924

10

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

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