Perlman S - Search Results

1

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G. Fogel BL, et al. Among authors: perlman s. Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23. Hum Mol Genet. 2014. PMID: 24760770 Free PMC article.

2

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. Among authors: perlman s. Am J Hum Genet. 1997 Apr;60(4):842-50. Am J Hum Genet. 1997. PMID: 9106530 Free PMC article.

3

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. Among authors: perlman s. Neurology. 1997 Oct;49(4):1004-9. doi: 10.1212/wnl.49.4.1004. Neurology. 1997. PMID: 9339680

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. Among authors: perlman s. Neurology. 1997 Nov;49(5):1247-51. doi: 10.1212/wnl.49.5.1247. Neurology. 1997. PMID: 9371902

5

Oculomotor phenotypes in autosomal dominant ataxias.

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

6

SCA8 repeat expansions in ataxia: a controversial association.

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

7

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

8

The SCA12 mutation as a rare cause of spinocerebellar ataxia.

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

9

Ataxia-telangiectasia: diagnosis and treatment.

Perlman S, Becker-Catania S, Gatti RA. Perlman S, et al. Semin Pediatr Neurol. 2003 Sep;10(3):173-82. doi: 10.1016/s1071-9091(03)00026-3. Semin Pediatr Neurol. 2003. PMID: 14653405 Review.

10

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. Arch Neurol. 2005 Dec;62(12):1865-9. doi: 10.1001/archneur.62.12.1865. Arch Neurol. 2005. PMID: 16344344

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