Perlman SL - Search Results

1

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.

Jasoliya MJ, McMackin MZ, Henderson CK, Perlman SL, Cortopassi GA. Jasoliya MJ, et al. Among authors: perlman sl. Hum Mol Genet. 2017 Jul 15;26(14):2627-2633. doi: 10.1093/hmg/ddx141. Hum Mol Genet. 2017. PMID: 28444186 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. Am J Hum Genet. 1997 Apr;60(4):842-50. Am J Hum Genet. 1997. PMID: 9106530 Free PMC article.

3

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. Deutsch EC, et al. Among authors: perlman sl. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8. Mol Genet Metab. 2010. PMID: 20675166 Free PMC article.

4

A gene expression phenotype in lymphocytes from Friedreich ataxia patients.

Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. Coppola G, et al. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526. Ann Neurol. 2011. PMID: 22162061 Free PMC article.

5

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. 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.

6

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.

Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, Perlman SL, Pook MA, Cortopassi GA. Sahdeo S, et al. Among authors: perlman sl. Hum Mol Genet. 2014 Dec 20;23(25):6848-62. doi: 10.1093/hmg/ddu408. Epub 2014 Aug 11. Hum Mol Genet. 2014. PMID: 25113747 Free PMC article.

7

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

8

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients.

Nachun D, Gao F, Isaacs C, Strawser C, Yang Z, Dokuru D, Van Berlo V, Sears R, Farmer J, Perlman S, Lynch DR, Coppola G. Nachun D, et al. Hum Mol Genet. 2018 Sep 1;27(17):2965-2977. doi: 10.1093/hmg/ddy198. Hum Mol Genet. 2018. PMID: 29790959 Free PMC article.

9

Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.

McMackin MZ, Durbin-Johnson B, Napierala M, Napierala JS, Ruiz L, Napoli E, Perlman S, Giulivi C, Cortopassi GA. McMackin MZ, et al. PLoS One. 2019 Oct 30;14(10):e0223209. doi: 10.1371/journal.pone.0223209. eCollection 2019. PLoS One. 2019. PMID: 31665133 Free PMC article.

10

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

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