Fogel BL - Search Results

1

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.

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

Candidate screening of the TRPC3 gene in cerebellar ataxia.

Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. Becker EB, et al. Among authors: fogel bl. Cerebellum. 2011 Jun;10(2):296-9. doi: 10.1007/s12311-011-0253-6. Cerebellum. 2011. PMID: 21321808 Free PMC article.

8

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.

9

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.

Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. Fogel BL, et al. Hum Mol Genet. 2012 Oct 1;21(19):4171-86. doi: 10.1093/hmg/dds240. Epub 2012 Jun 23. Hum Mol Genet. 2012. PMID: 22730494 Free PMC article.

10

Childhood cerebellar ataxia.

Fogel BL. Fogel BL. J Child Neurol. 2012 Sep;27(9):1138-45. doi: 10.1177/0883073812448231. Epub 2012 Jul 4. J Child Neurol. 2012. PMID: 22764177 Free PMC article. Review.

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