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Items: 42

1.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

PMID:
29955172
2.

Collaborative science unites researchers and a novel spastic ataxia gene.

Fogel BL.

Ann Neurol. 2018 Jun;83(6):1072-1074. doi: 10.1002/ana.25262. No abstract available.

PMID:
29908061
3.

Expanding the global prevalence of spinocerebellar ataxia type 42.

Ngo K, Aker M, Petty LE, Chen J, Cavalcanti F, Nelson AB, Hassin-Baer S, Geschwind MD, Perlman S, Italiano D, Laganà A, Cavallaro S, Coppola G, Below JE, Fogel BL.

Neurol Genet. 2018 Apr 5;4(3):e232. doi: 10.1212/NXG.0000000000000232. eCollection 2018 Jun. No abstract available. Erratum in: Neurol Genet. 2018 May 18;4(3):e238.

4.

Autosomal-recessive cerebellar ataxias.

Fogel BL.

Handb Clin Neurol. 2018;147:187-209. doi: 10.1016/B978-0-444-63233-3.00013-0.

PMID:
29325611
5.

Genetic and genomic testing for neurologic disease in clinical practice.

Fogel BL.

Handb Clin Neurol. 2018;147:11-22. doi: 10.1016/B978-0-444-63233-3.00002-6. Review.

PMID:
29325607
6.

Prevalence of spinocerebellar ataxia 36 in a US population.

Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL.

Neurol Genet. 2017 Jul 18;3(4):e174. doi: 10.1212/NXG.0000000000000174. eCollection 2017 Aug.

7.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM.

Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Review.

8.

The need to develop a patient-centered precision medicine model for adults with chronic disability.

Wolf SM, Thyagarajan B, Fogel BL.

Expert Rev Mol Diagn. 2017 May;17(5):415-418. doi: 10.1080/14737159.2017.1309976. Epub 2017 Apr 3. No abstract available.

9.

ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism.

Berto S, Usui N, Konopka G, Fogel BL.

Hum Mol Genet. 2016 Jun 15;25(12):2451-2464. Epub 2016 Jun 3.

10.

Whole exome sequencing in patients with white matter abnormalities.

Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JL, McNeill N, Fogel BL; Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ.

Ann Neurol. 2016 Jun;79(6):1031-7. doi: 10.1002/ana.24650. Epub 2016 May 9.

11.

Clinical exome sequencing in neurologic disease.

Fogel BL, Satya-Murti S, Cohen BH.

Neurol Clin Pract. 2016 Apr;6(2):164-176. Review. Erratum in: Neurol Clin Pract. 2016 Aug;6(4):368.

12.

Emerging therapies in Friedreich's ataxia.

Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA.

Neurodegener Dis Manag. 2016;6(1):49-65. doi: 10.2217/nmt.15.73. Review.

13.

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF.

Ann N Y Acad Sci. 2016 Feb;1366(1):49-60. doi: 10.1111/nyas.12850. Epub 2015 Aug 6. Review.

14.

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.

Becherel OJ, Sun J, Yeo AJ, Nayler S, Fogel BL, Gao F, Coppola G, Criscuolo C, De Michele G, Wolvetang E, Lavin MF.

Hum Mol Genet. 2015 Oct 15;24(20):5759-74. doi: 10.1093/hmg/ddv296. Epub 2015 Jul 30.

15.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G.

Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

16.

Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?

Fogel BL, Hanson SM, Becker EB.

Mov Disord. 2015 Feb;30(2):284-6. doi: 10.1002/mds.26096. Epub 2014 Dec 5. No abstract available.

17.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

18.

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.

JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. Erratum in: JAMA Neurol. 2015 Jan;72(1):128.

19.

The neurogenetics of atypical parkinsonian disorders.

Fogel BL, Clark MC, Geschwind DH.

Semin Neurol. 2014 Apr;34(2):217-24. doi: 10.1055/s-0034-1381738. Epub 2014 Jun 25. Review.

20.

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.

Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.

21.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.

Int Rev Neurobiol. 2013;113:251-67. doi: 10.1016/B978-0-12-418700-9.00008-3. Review.

22.

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Shakkottai VG, Fogel BL.

Neurol Clin. 2013 Nov;31(4):987-1007. doi: 10.1016/j.ncl.2013.04.006. Epub 2013 Jul 30. Review.

23.

Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.

Fogel BL, Vickrey BG, Walton-Wetzel J, Lieber E, Browner CH.

Genet Test Mol Biomarkers. 2013 Aug;17(8):588-94. doi: 10.1089/gtmb.2013.0005. Epub 2013 Jun 1.

24.

Mutations in PDYN are not responsible for multiple system atrophy.

Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G.

J Neurol. 2013 Mar;260(3):927-8. doi: 10.1007/s00415-012-6830-x. Epub 2013 Jan 25. No abstract available.

25.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G.

Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

26.

C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.

Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G.

Mov Disord. 2012 Dec;27(14):1832-3. doi: 10.1002/mds.25245. Epub 2012 Oct 18. No abstract available.

27.

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.

28.
29.

Childhood cerebellar ataxia.

Fogel BL.

J Child Neurol. 2012 Sep;27(9):1138-45. doi: 10.1177/0883073812448231. Epub 2012 Jul 4. Review.

30.

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.

Hum Mol Genet. 2012 Oct 1;21(19):4171-86. doi: 10.1093/hmg/dds240. Epub 2012 Jun 23.

31.

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.

Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.

32.

New-onset psychosis in a patient with spinocerebellar ataxia type 10.

Wexler E, Fogel BL.

Am J Psychiatry. 2011 Dec;168(12):1339-40. doi: 10.1176/appi.ajp.2011.11050737. No abstract available.

PMID:
22193677
33.

Interpretation of genetic testing: variants of unknown significance.

Fogel BL.

Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):347-52. doi: 10.1212/01.CON.0000396975.87637.86.

34.

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.

Cerebellum. 2011 Jun;10(2):296-9. doi: 10.1007/s12311-011-0253-6.

35.

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

Fogel BL, Lee JY, Perlman S.

Cerebellum. 2009 Dec;8(4):448-53. doi: 10.1007/s12311-009-0130-8.

36.

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

Fogel BL, Young P, Thompson AR, Perlman S.

Neurogenetics. 2008 Jul;9(3):215-8. doi: 10.1007/s10048-008-0132-6. Epub 2008 May 15.

PMID:
18481121
37.

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Fogel BL, Perlman S.

Lancet Neurol. 2007 Mar;6(3):245-57. Review.

PMID:
17303531
38.

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Fogel BL, Perlman S.

Neurology. 2006 Dec 12;67(11):2083-4. No abstract available.

PMID:
17159128
39.

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

Fogel BL, Perlman S.

Nat Clin Pract Neurol. 2006 Nov;2(11):629-35; quiz 1 p following 635.

PMID:
17057750
40.

Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element.

Fogel BL, McNally LM, McNally MT.

Nucleic Acids Res. 2002 Feb 1;30(3):810-7.

41.

A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus.

Fogel BL, McNally MT.

J Biol Chem. 2000 Oct 13;275(41):32371-8. Erratum in: J Biol Chem 2001 Jan 19;276(3):2310.

42.

Trace contamination following reuse of anion-exchange DNA purification resins.

Fogel BL, McNally MT.

Biotechniques. 2000 Feb;28(2):299-302. No abstract available.

PMID:
10683741

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