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Items: 50

1.

Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).

Lam M, Trampush JW, Yu J, Knowles E, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Hellard SL, Keller MC, Andreassen OA, Glahn DC, Malhotra AK, Lencz T.

Twin Res Hum Genet. 2018 Jul 13:1-4. doi: 10.1017/thg.2018.46. [Epub ahead of print]

PMID:
30001766
2.

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H, Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S, Montgomery GW, Muñoz-Manchado AB, Quinlan EB, Schumann G, Skene NG, Webb BT, White T, Arking DE, Avramopoulos D, Bilder RM, Bitsios P, Burdick KE, Cannon TD, Chiba-Falek O, Christoforou A, Cirulli ET, Congdon E, Corvin A, Davies G, Deary IJ, DeRosse P, Dickinson D, Djurovic S, Donohoe G, Conley ED, Eriksson JG, Espeseth T, Freimer NA, Giakoumaki S, Giegling I, Gill M, Glahn DC, Hariri AR, Hatzimanolis A, Keller MC, Knowles E, Koltai D, Konte B, Lahti J, Le Hellard S, Lencz T, Liewald DC, London E, Lundervold AJ, Malhotra AK, Melle I, Morris D, Need AC, Ollier W, Palotie A, Payton A, Pendleton N, Poldrack RA, Räikkönen K, Reinvang I, Roussos P, Rujescu D, Sabb FW, Scult MA, Smeland OB, Smyrnis N, Starr JM, Steen VM, Stefanis NC, Straub RE, Sundet K, Tiemeier H, Voineskos AN, Weinberger DR, Widen E, Yu J, Abecasis G, Andreassen OA, Breen G, Christiansen L, Debrabant B, Dick DM, Heinz A, Hjerling-Leffler J, Ikram MA, Kendler KS, Martin NG, Medland SE, Pedersen NL, Plomin R, Polderman TJC, Ripke S, van der Sluis S, Sullivan PF, Vrieze SI, Wright MJ, Posthuma D.

Nat Genet. 2018 Jul;50(7):912-919. doi: 10.1038/s41588-018-0152-6. Epub 2018 Jun 25.

PMID:
29942086
3.

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C, Hofer E, Ikram MA, Karlsson R, Knowles E, Lahti J, Leber M, Li S, Mather KA, Melle I, Morris D, Oldmeadow C, Palviainen T, Payton A, Pazoki R, Petrovic K, Reynolds CA, Sargurupremraj M, Scholz M, Smith JA, Smith AV, Terzikhan N, Thalamuthu A, Trompet S, van der Lee SJ, Ware EB, Windham BG, Wright MJ, Yang J, Yu J, Ames D, Amin N, Amouyel P, Andreassen OA, Armstrong NJ, Assareh AA, Attia JR, Attix D, Avramopoulos D, Bennett DA, Böhmer AC, Boyle PA, Brodaty H, Campbell H, Cannon TD, Cirulli ET, Congdon E, Conley ED, Corley J, Cox SR, Dale AM, Dehghan A, Dick D, Dickinson D, Eriksson JG, Evangelou E, Faul JD, Ford I, Freimer NA, Gao H, Giegling I, Gillespie NA, Gordon SD, Gottesman RF, Griswold ME, Gudnason V, Harris TB, Hartmann AM, Hatzimanolis A, Heiss G, Holliday EG, Joshi PK, Kähönen M, Kardia SLR, Karlsson I, Kleineidam L, Knopman DS, Kochan NA, Konte B, Kwok JB, Le Hellard S, Lee T, Lehtimäki T, Li SC, Liu T, Koini M, London E, Longstreth WT Jr, Lopez OL, Loukola A, Luck T, Lundervold AJ, Lundquist A, Lyytikäinen LP, Martin NG, Montgomery GW, Murray AD, Need AC, Noordam R, Nyberg L, Ollier W, Papenberg G, Pattie A, Polasek O, Poldrack RA, Psaty BM, Reppermund S, Riedel-Heller SG, Rose RJ, Rotter JI, Roussos P, Rovio SP, Saba Y, Sabb FW, Sachdev PS, Satizabal CL, Schmid M, Scott RJ, Scult MA, Simino J, Slagboom PE, Smyrnis N, Soumaré A, Stefanis NC, Stott DJ, Straub RE, Sundet K, Taylor AM, Taylor KD, Tzoulaki I, Tzourio C, Uitterlinden A, Vitart V, Voineskos AN, Kaprio J, Wagner M, Wagner H, Weinhold L, Wen KH, Widen E, Yang Q, Zhao W, Adams HHH, Arking DE, Bilder RM, Bitsios P, Boerwinkle E, Chiba-Falek O, Corvin A, De Jager PL, Debette S, Donohoe G, Elliott P, Fitzpatrick AL, Gill M, Glahn DC, Hägg S, Hansell NK, Hariri AR, Ikram MK, Jukema JW, Vuoksimaa E, Keller MC, Kremen WS, Launer L, Lindenberger U, Palotie A, Pedersen NL, Pendleton N, Porteous DJ, Räikkönen K, Raitakari OT, Ramirez A, Reinvang I, Rudan I, Dan Rujescu, Schmidt R, Schmidt H, Schofield PW, Schofield PR, Starr JM, Steen VM, Trollor JN, Turner ST, Van Duijn CM, Villringer A, Weinberger DR, Weir DR, Wilson JF, Malhotra A, McIntosh AM, Gale CR, Seshadri S, Mosley TH Jr, Bressler J, Lencz T, Deary IJ.

Nat Commun. 2018 May 29;9(1):2098. doi: 10.1038/s41467-018-04362-x.

4.

Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene.

Afek A, Tagliafierro L, Glenn OC, Lukatsky DB, Gordan R, Chiba-Falek O.

Neurogenetics. 2018 Aug;19(3):135-144. doi: 10.1007/s10048-018-0546-8. Epub 2018 May 5.

5.

Probing the role of PPARγ in the regulation of late-onset Alzheimer's disease-associated genes.

Barrera J, Subramanian S, Chiba-Falek O.

PLoS One. 2018 May 3;13(5):e0196943. doi: 10.1371/journal.pone.0196943. eCollection 2018.

6.

The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.

Chiba-Falek O, Gottschalk WK, Lutz MW.

Alzheimers Dement. 2018 May;14(5):692-698. doi: 10.1016/j.jalz.2018.01.015. Epub 2018 Mar 7.

PMID:
29524426
7.

Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T.

Cell Rep. 2017 Nov 28;21(9):2597-2613. doi: 10.1016/j.celrep.2017.11.028.

8.

GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

Trampush JW, Yang MLZ, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T.

Mol Psychiatry. 2017 Nov;22(11):1651-1652. doi: 10.1038/mp.2017.197. Epub 2017 Sep 12.

9.

Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168.

Glenn OC, Tagliafierro L, Beach TG, Woltjer RL, Chiba-Falek O.

Front Genet. 2017 Sep 20;8:133. doi: 10.3389/fgene.2017.00133. eCollection 2017.

10.

Towards precision medicine in Alzheimer's disease: deciphering genetic data to establish informative biomarkers.

Chiba-Falek O, Lutz MW.

Expert Rev Precis Med Drug Dev. 2017;2(1):47-55. doi: 10.1080/23808993.2017.1286227. Epub 2017 Feb 1.

11.

Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies.

Tagliafierro L, Glenn OC, Zamora ME, Beach TG, Woltjer RL, Lutz MW, Chiba-Falek O.

Alzheimers Dement. 2017 Nov;13(11):1237-1250. doi: 10.1016/j.jalz.2017.03.001. Epub 2017 Apr 18.

PMID:
28431219
12.

Structural variants in SNCA gene and the implication to synucleinopathies.

Chiba-Falek O.

Curr Opin Genet Dev. 2017 Jun;44:110-116. doi: 10.1016/j.gde.2017.01.014. Epub 2017 Mar 2. Review.

13.

GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T.

Mol Psychiatry. 2017 Mar;22(3):336-345. doi: 10.1038/mp.2016.244. Epub 2017 Jan 17. Erratum in: Mol Psychiatry. 2017 Nov;22(11):1651-1652.

14.

The effects of PPARγ on the regulation of the TOMM40-APOE-C1 genes cluster.

Subramanian S, Gottschalk WK, Kim SY, Roses AD, Chiba-Falek O.

Biochim Biophys Acta. 2017 Mar;1863(3):810-816. doi: 10.1016/j.bbadis.2017.01.004. Epub 2017 Jan 6.

15.

Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues.

Tagliafierro L, Bonawitz K, Glenn OC, Chiba-Falek O.

Front Mol Neurosci. 2016 Aug 18;9:72. doi: 10.3389/fnmol.2016.00072. eCollection 2016.

16.

The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.

Saul R, Lutz MW, Burns DK, Roses AD, Chiba-Falek O.

Hum Mutat. 2016 Sep;37(9):877-83. doi: 10.1002/humu.23023. Epub 2016 Jun 27.

17.

The Role of Upregulated APOE in Alzheimer's Disease Etiology.

Gottschalk WK, Mihovilovic M, Roses AD, Chiba-Falek O.

J Alzheimers Dis Parkinsonism. 2016 Mar;6(1). pii: 209. Epub 2016 Feb 9. No abstract available.

18.

Up-regulation of SNCA gene expression: implications to synucleinopathies.

Tagliafierro L, Chiba-Falek O.

Neurogenetics. 2016 Jul;17(3):145-57. doi: 10.1007/s10048-016-0478-0. Epub 2016 Mar 7. Review.

19.

Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.

Roses AD, Akkari PA, Chiba-Falek O, Lutz MW, Gottschalk WK, Saunders AM, Saul B, Sundseth S, Burns D.

Expert Opin Drug Metab Toxicol. 2016;12(2):135-47. doi: 10.1517/17425255.2016.1133586. Epub 2016 Feb 2. Review.

PMID:
26727306
20.

A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression.

Lutz MW, Saul R, Linnertz C, Glenn OC, Roses AD, Chiba-Falek O.

Alzheimers Dement. 2015 Oct;11(10):1133-43. doi: 10.1016/j.jalz.2015.05.011. Epub 2015 Jun 13.

21.

The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.

Gottschalk WK, Lutz MW, He YT, Saunders AM, Burns DK, Roses AD, Chiba-Falek O.

J Parkinsons Dis Alzheimers Dis. 2014 Nov;1(1). pii: 12.

22.

African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles.

Roses AD, Lutz MW, Saunders AM, Goldgaber D, Saul R, Sundseth SS, Akkari PA, Roses SM, Gottschalk WK, Whitfield KE, Vostrov AA, Hauser MA, Allingham RR, Burns DK, Chiba-Falek O, Welsh-Bohmer KA.

Alzheimers Dement. 2014 Nov;10(6):592-601.e2. doi: 10.1016/j.jalz.2014.06.009. Epub 2014 Sep 26.

23.

The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.

Linnertz C, Lutz MW, Ervin JF, Allen J, Miller NR, Welsh-Bohmer KA, Roses AD, Chiba-Falek O.

Hum Mol Genet. 2014 Sep 15;23(18):4814-21. doi: 10.1093/hmg/ddu196. Epub 2014 Apr 28.

24.

The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes.

Linnertz C, Anderson L, Gottschalk W, Crenshaw D, Lutz MW, Allen J, Saith S, Mihovilovic M, Burke JR, Welsh-Bohmer KA, Roses AD, Chiba-Falek O.

Alzheimers Dement. 2014 Sep;10(5):541-51. doi: 10.1016/j.jalz.2013.08.280. Epub 2014 Jan 15.

25.

A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments.

Smith PJ, Need AC, Cirulli ET, Chiba-Falek O, Attix DK.

J Clin Exp Neuropsychol. 2013;35(3):319-28. doi: 10.1080/13803395.2013.771618. Epub 2013 Feb 27.

PMID:
23444947
26.

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

Davies G, Harris SE, Reynolds CA, Payton A, Knight HM, Liewald DC, Lopez LM, Luciano M, Gow AJ, Corley J, Henderson R, Murray C, Pattie A, Fox HC, Redmond P, Lutz MW, Chiba-Falek O, Linnertz C, Saith S, Haggarty P, McNeill G, Ke X, Ollier W, Horan M, Roses AD, Ponting CP, Porteous DJ, Tenesa A, Pickles A, Starr JM, Whalley LJ, Pedersen NL, Pendleton N, Visscher PM, Deary IJ.

Mol Psychiatry. 2014 Jan;19(1):76-87. doi: 10.1038/mp.2012.159. Epub 2012 Dec 4.

PMID:
23207651
27.

Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection.

Chiba-Falek O, Linnertz C, Guyton J, Gardner SD, Roses AD, McCarthy JJ, Patel K.

Hum Genet. 2012 Dec;131(12):1911-20. doi: 10.1007/s00439-012-1220-0. Epub 2012 Aug 17.

PMID:
22898894
28.

A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging.

Hayden KM, McEvoy JM, Linnertz C, Attix D, Kuchibhatla M, Saunders AM, Lutz MW, Welsh-Bohmer KA, Roses AD, Chiba-Falek O.

Alzheimers Dement. 2012 Sep;8(5):381-8. doi: 10.1016/j.jalz.2011.10.005. Epub 2012 Aug 3.

29.

Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease.

Browndyke JN, Giovanello K, Petrella J, Hayden K, Chiba-Falek O, Tucker KA, Burke JR, Welsh-Bohmer KA.

Alzheimers Dement. 2013 May;9(3):284-94. doi: 10.1016/j.jalz.2011.12.006. Epub 2012 Jul 28.

30.

Characterization of the poly-T variant in the TOMM40 gene in diverse populations.

Linnertz C, Saunders AM, Lutz MW, Crenshaw DM, Grossman I, Burns DK, Whitfield KE, Hauser MA, McCarthy JJ, Ulmer M, Allingham R, Welsh-Bohmer KA, Roses AD, Chiba-Falek O.

PLoS One. 2012;7(2):e30994. doi: 10.1371/journal.pone.0030994. Epub 2012 Feb 16.

31.

Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests.

Cirulli ET, Attix DK, Smith PJ, Chiba-Falek O, Pennuto TO, Linney KN, Goldstein DB.

Clin Neuropsychol. 2011 Jul;25(5):778-98. doi: 10.1080/13854046.2011.578587. Epub 2011 Jul 4.

PMID:
21722049
32.

The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression.

McCarthy JJ, Saith S, Linnertz C, Burke JR, Hulette CM, Welsh-Bohmer KA, Chiba-Falek O.

Neurobiol Aging. 2012 Jul;33(7):1485.e1-8. doi: 10.1016/j.neurobiolaging.2010.10.004. Epub 2010 Dec 23.

33.

The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.

McCarthy JJ, Linnertz C, Saucier L, Burke JR, Hulette CM, Welsh-Bohmer KA, Chiba-Falek O.

Neurogenetics. 2011 Feb;12(1):59-64. doi: 10.1007/s10048-010-0263-4. Epub 2010 Nov 3.

34.

Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study.

Chiba-Falek O, Nichols M, Suchindran S, Guyton J, Ginsburg GS, Barrett-Connor E, McCarthy JJ.

BMC Med Genet. 2010 Jan 19;11:9. doi: 10.1186/1471-2350-11-9.

35.

Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

Heinzen EL, Need AC, Hayden KM, Chiba-Falek O, Roses AD, Strittmatter WJ, Burke JR, Hulette CM, Welsh-Bohmer KA, Goldstein DB.

J Alzheimers Dis. 2010;19(1):69-77. doi: 10.3233/JAD-2010-1212.

36.

Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues.

Linnertz C, Saucier L, Ge D, Cronin KD, Burke JR, Browndyke JN, Hulette CM, Welsh-Bohmer KA, Chiba-Falek O.

PLoS One. 2009 Oct 16;4(10):e7480. doi: 10.1371/journal.pone.0007480.

37.

Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain.

Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, Orrison BM, Bernard DJ, El-Agnaf OM, Schlossmacher MG, Nussbaum RL, Chiba-Falek O.

Hum Mol Genet. 2009 Sep 1;18(17):3274-85. doi: 10.1093/hmg/ddp265. Epub 2009 Jun 4.

38.

Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.

Chiba-Falek O, Lopez GJ, Nussbaum RL.

Mov Disord. 2006 Oct;21(10):1703-8.

PMID:
16795004
39.

Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene.

Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL.

Am J Hum Genet. 2005 Mar;76(3):478-92. Epub 2005 Jan 25.

40.

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.

Nissim-Rafinia M, Aviram M, Randell SH, Shushi L, Ozeri E, Chiba-Falek O, Eidelman O, Pollard HB, Yankaskas JR, Kerem B.

EMBO Rep. 2004 Nov;5(11):1071-7.

41.

Regulation of alpha-synuclein expression: implications for Parkinson's disease.

Chiba-Falek O, Nussbaum RL.

Cold Spring Harb Symp Quant Biol. 2003;68:409-15. Review. No abstract available.

PMID:
15338643
42.

Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.

Chiba-Falek O, Touchman JW, Nussbaum RL.

Hum Genet. 2003 Oct;113(5):426-31. Epub 2003 Aug 16.

PMID:
12923682
44.

Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.

Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL.

Genome Res. 2001 Jan;11(1):78-86.

45.

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.

Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B.

Hum Mol Genet. 2000 Jul 22;9(12):1771-8.

PMID:
10915765
46.

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.

Chiba-Falek O, Parad RB, Kerem E, Kerem B.

Am J Respir Crit Care Med. 1999 Jun;159(6):1998-2002.

PMID:
10351951
47.

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.

Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B.

Genomics. 1998 Nov 1;53(3):276-83.

PMID:
9799593
48.

Screening of CFTR mutations in an isolated population: identification of carriers and patients.

Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B.

Eur J Hum Genet. 1998 Mar-Apr;6(2):181-4.

49.

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.

Kerem E, Rave-Harel N, Augarten A, Madgar I, Nissim-Rafinia M, Yahav Y, Goshen R, Bentur L, Rivlin J, Aviram M, Genem A, Chiba-Falek O, Kraemer MR, Simon A, Branski D, Kerem B.

Am J Respir Crit Care Med. 1997 Jun;155(6):1914-20.

PMID:
9196095
50.

Cystic fibrosis in Jews: frequency and mutation distribution.

Kerem B, Chiba-Falek O, Kerem E.

Genet Test. 1997;1(1):35-9. Review.

PMID:
10464623

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