Perlman SL - Search Results

1

α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.

Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. Dutta S, et al. Among authors: perlman sl. Acta Neuropathol. 2021 Sep;142(3):495-511. doi: 10.1007/s00401-021-02324-0. Epub 2021 May 15. Acta Neuropathol. 2021. PMID: 33991233 Free PMC article.

2

An approach to the patient with late-onset cerebellar ataxia.

Fogel BL, Perlman S. Fogel BL, et al. Nat Clin Pract Neurol. 2006 Nov;2(11):629-35; quiz 1 p following 635. doi: 10.1038/ncpneuro0319. Nat Clin Pract Neurol. 2006. PMID: 17057750

3

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.

4

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.

5

A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.

Fogel BL, Young P, Thompson AR, Perlman S. Fogel BL, et al. Neurogenetics. 2008 Jul;9(3):215-8. doi: 10.1007/s10048-008-0132-6. Epub 2008 May 15. Neurogenetics. 2008. PMID: 18481121

6

Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.

Fogel BL, Lee JY, Perlman S. Fogel BL, et al. Cerebellum. 2009 Dec;8(4):448-53. doi: 10.1007/s12311-009-0130-8. Cerebellum. 2009. PMID: 19727998 Free PMC article.

7

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. Fogel BL, et al. Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27. Mov Disord. 2012. PMID: 22287014 Free PMC article.

8

Mutations in PDYN are not responsible for multiple system atrophy.

Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. Fogel BL, et al. Among authors: perlman sl. J Neurol. 2013 Mar;260(3):927-8. doi: 10.1007/s00415-012-6830-x. Epub 2013 Jan 25. J Neurol. 2013. PMID: 23355175 Free PMC article. No abstract available.

9

Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial.

Low PA, Robertson D, Gilman S, Kaufmann H, Singer W, Biaggioni I, Freeman R, Perlman S, Hauser RA, Cheshire W, Lessig S, Vernino S, Mandrekar J, Dupont WD, Chelimsky T, Galpern WR. Low PA, et al. Lancet Neurol. 2014 Mar;13(3):268-75. doi: 10.1016/S1474-4422(13)70301-6. Epub 2014 Feb 5. Lancet Neurol. 2014. PMID: 24507091 Free PMC article. Clinical Trial.

10

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Fogel BL, et al. JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. JAMA Neurol. 2014. PMID: 25133958 Free PMC article.

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