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profileLaurie Ozelius, Ph.D., Sc.D.

TitleAssociate Professor of Neurology
InstitutionMassachusetts General Hospital
DepartmentNeurology
Address16th Street
Blding 114
Rm32000
Charlestown MA 02129
Phone617/724-2346
Fax617/726-5736
vCardDownload vCard (login for email)

Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
P01NS087997     (BREAKEFIELD, XANDRA OWENS)Jul 1, 2015 - Jun 30, 2020
NIH/NINDS
Molecular etiology of early onset dystonia
Role: Co-Principal Investigator

R01NS081282     (EHRLICH, MICHELLE E)Jun 15, 2013 - Mar 31, 2018
NIH/NINDS
Dopamine D1 Receptor in mouse models of primary dystonia
Role: Co-Principal Investigator

R21NS075881     (OZELIUS, LAURIE J.)Feb 15, 2012 - Jan 31, 2014
NIH/NINDS
Gene discovery in primary dystonia using whole exome sequencing
Role: Principal Investigator

R21RR026123     (OZELIUS, LAURIE J.)Mar 1, 2010 - Feb 29, 2012
NIH/NCRR
Creation of mouse models for DYT6 dystonia
Role: Principal Investigator

P01NS044233     (LOW, PHILLIP A)Jul 1, 2002 - Jul 31, 2015
NIH/NINDS
Pathogenesis and Diagnosis of Multiple System Atrophy (P01)
Role: Co-Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017 Jul 01; 74(7):806-812. PMID: 28558098.
    View in: PubMed
  2. Moran EE, Wang C, Katz M, Ozelius L, Schwartz A, Pavlovic J, Ortega RA, Lipton RB, Zimmerman ME, Saunders-Pullman R. Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers. Neurobiol Aging. 2017 Oct; 58:239.e1-239.e7. PMID: 28728889.
    View in: PubMed
  3. Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord. 2017 Aug; 41:118-120. PMID: 28655586.
    View in: PubMed
  4. Aguilo F, Zakirova Z, Nolan K, Wagner R, Sharma R, Hogan M, Wei C, Sun Y, Walsh MJ, Kelley K, Zhang W, Ozelius LJ, Gonzalez-Alegre P, Zwaka TP, Ehrlich ME. THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation. Stem Cell Reports. 2017 Jul 11; 9(1):92-107. PMID: 28579396.
    View in: PubMed
  5. Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K. Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. Neurol Genet. 2017 Apr; 3(2):e139. PMID: 28293679.
    View in: PubMed
  6. Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Phenotype- and genotype-specific structural alterations in spasmodic dysphonia. Mov Disord. 2017 Apr; 32(4):560-568. PMID: 28186656.
    View in: PubMed
  7. Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2a Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016 Dec 21; 92(6):1238-1251. PMID: 27939583.
    View in: PubMed
  8. Swan M, Doan N, Ortega RA, Barrett M, Nichols W, Ozelius L, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R. Neuropsychiatric characteristics of GBA-associated Parkinson disease. J Neurol Sci. 2016 Nov 15; 370:63-69. PMID: 27772789.
    View in: PubMed
  9. Battistella G, Fuertinger S, Fleysher L, Ozelius LJ, Simonyan K. Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia. Eur J Neurol. 2016 Oct; 23(10):1517-27. PMID: 27346568.
    View in: PubMed
  10. de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N. Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. Otolaryngol Head Neck Surg. 2016 Oct; 155(4):624-8. PMID: 27188707.
    View in: PubMed
  11. Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A. ATP1A3 Mutation in Adult Rapid-Onset Ataxia. PLoS One. 2016; 11(3):e0151429. PMID: 26990090; PMCID: PMC4798776.
  12. Sundermann EE, Wang C, Katz M, Zimmerman ME, Derby CA, Hall CB, Ozelius LJ, Lipton RB. Cholesteryl ester transfer protein genotype modifies the effect of apolipoprotein e4 on memory decline in older adults. Neurobiol Aging. 2016 May; 41:200.e7-200.e12. PMID: 27033407.
    View in: PubMed
  13. Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. GNAL mutation in isolated laryngeal dystonia. Mov Disord. 2016 May; 31(5):750-5. PMID: 27093447; PMCID: PMC4933312 [Available on 05/01/17].
  14. Liu YB, Tewari A, Salameh J, Arystarkhova E, Hampton TG, Brashear A, Ozelius LJ, Khodakhah K, Sweadner KJ. A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin ß1 subunit, Lamb1. Elife. 2015 Dec 24; 4. PMID: 26705335; PMCID: PMC4749547.
  15. Termsarasab P, Ramdhani RA, Battistella G, Rubien-Thomas E, Choy M, Farwell IM, Velickovic M, Blitzer A, Frucht SJ, Reilly RB, Hutchinson M, Ozelius LJ, Simonyan K. Neural correlates of abnormal sensory discrimination in laryngeal dystonia. Neuroimage Clin. 2016; 10:18-26. PMID: 26693398; PMCID: PMC4660380.
  16. Ruiz M, Perez-Garcia G, Ortiz-Virumbrales M, Méneret A, Morant A, Kottwitz J, Fuchs T, Bonet J, Gonzalez-Alegre P, Hof PR, Ozelius LJ, Ehrlich ME. Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. Hum Mol Genet. 2015 Dec 20; 24(25):7159-70. PMID: 26376866; PMCID: PMC4757965 [Available on 12/20/16].
  17. Saunders-Pullman R, Alcalay RN, Mirelman A, Wang C, Luciano MS, Ortega RA, Glickman A, Raymond D, Mejia-Santana H, Doan N, Johannes B, Yasinovsky K, Ozelius L, Clark L, Orr-Utreger A, Marder K, Giladi N, Bressman SB. REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers. Mov Disord. 2015 Nov; 30(13):1834-9. PMID: 26366513; PMCID: PMC4715645 [Available on 11/01/16].
  18. Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe'er I, Ostrer H, Oddoux C. Expanded genetic screening panel for the Ashkenazi Jewish population. Genet Med. 2016 May; 18(5):522-8. PMID: 26334176; PMCID: PMC4814352 [Available on 05/01/17].
  19. Marder K, Wang Y, Alcalay RN, Mejia-Santana H, Tang MX, Lee A, Raymond D, Mirelman A, Saunders-Pullman R, Clark L, Ozelius L, Orr-Urtreger A, Giladi N, Bressman S. Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium. Neurology. 2015 Jul 07; 85(1):89-95. PMID: 26062626; PMCID: PMC4501942.
  20. Mirelman A, Alcalay RN, Saunders-Pullman R, Yasinovsky K, Thaler A, Gurevich T, Mejia-Santana H, Raymond D, Gana-Weisz M, Bar-Shira A, Ozelius L, Clark L, Orr-Urtreger A, Bressman S, Marder K, Giladi N. Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene. Mov Disord. 2015 Jun; 30(7):981-6. PMID: 25809001; PMCID: PMC4478229.
  21. de Carvalho Aguiar P, Borges V, Ferraz HB, Ozelius LJ. Novel compound heterozygous mutations in PRKRA cause pure dystonia. Mov Disord. 2015 May; 30(6):877-8. PMID: 25737287; PMCID: PMC4439278.
  22. Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, Kikuchi A, Aoki M, Ishiura H, Yasuda T, Date H, Ahsan B, Iwata A, Goto J, Ichikawa Y, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S. Variants associated with Gaucher disease in multiple system atrophy. Ann Clin Transl Neurol. 2015 Apr; 2(4):417-26. PMID: 25909086; PMCID: PMC4402086.
  23. Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 2015 Mar; 56(3):422-30. PMID: 25656163; PMCID: PMC4363281.
  24. Alcalay RN, Mejia-Santana H, Mirelman A, Saunders-Pullman R, Raymond D, Palmese C, Caccappolo E, Ozelius L, Orr-Urtreger A, Clark L, Giladi N, Bressman S, Marder K. Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease. Parkinsonism Relat Disord. 2015 Feb; 21(2):106-10. PMID: 25434972; PMCID: PMC4306614.
  25. Saunders-Pullman R, Mirelman A, Wang C, Alcalay RN, San Luciano M, Ortega R, Raymond D, Mejia-Santana H, Ozelius L, Clark L, Orr-Utreger A, Marder K, Giladi N, Bressman SB. Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker? Ann Clin Transl Neurol. 2014 Sep; 1(9):670-8. PMID: 25493281; PMCID: PMC4241794.
  26. Ortiz-Virumbrales M, Ruiz M, Hone E, Dolios G, Wang R, Morant A, Kottwitz J, Ozelius LJ, Gandy S, Ehrlich ME. Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions. Acta Neuropathol Commun. 2014 Sep 18; 2:139. PMID: 25231164; PMCID: PMC4177242.
  27. Carmi S, Hui KY, Kochav E, Liu X, Xue J, Grady F, Guha S, Upadhyay K, Ben-Avraham D, Mukherjee S, Bowen BM, Thomas T, Vijai J, Cruts M, Froyen G, Lambrechts D, Plaisance S, Van Broeckhoven C, Van Damme P, Van Marck H, Barzilai N, Darvasi A, Offit K, Bressman S, Ozelius LJ, Peter I, Cho JH, Ostrer H, Atzmon G, Clark LN, Lencz T, Pe'er I. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun. 2014 Sep 09; 5:4835. PMID: 25203624; PMCID: PMC4164776.
  28. Gupte M, Alcalay RN, Mejia-Santana H, Raymond D, Saunders-Pullman R, Roos E, Orbe-Reily M, Tang MX, Mirelman A, Ozelius L, Orr-Urtreger A, Clark L, Giladi N, Bressman S, Marder K. Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives. J Genet Couns. 2015 Apr; 24(2):238-46. PMID: 25127731; PMCID: PMC4331260.
  29. Barrett MJ, Shanker VL, Severt WL, Raymond D, Gross SJ, Schreiber-Agus N, Kornreich R, Ozelius LJ, Bressman SB, Saunders-Pullman R. Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Rep. 2014; 16:31-8. PMID: 24850235; PMCID: PMC4221612.
  30. Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe'er I, Bressman SB, Orr-Urtreger A. Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. Hum Mol Genet. 2014 Sep 01; 23(17):4693-702. PMID: 24842889; PMCID: PMC4119402.
  31. Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelius LJ, Brashear A, Ghetti B. Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. Acta Neuropathol. 2014 Jul; 128(1):81-98. PMID: 24803225; PMCID: PMC4059967.
  32. Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurol. 2014 May; 13(5):503-14. PMID: 24739246; PMCID: PMC4238309.
  33. Saunders-Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R, Deik A, Ozelius LJ, Bressman SB. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord. 2014 May; 29(6):812-8. PMID: 24500857; PMCID: PMC4013240.
  34. Cook JF, Hill DF, Snively BM, Boggs N, Suerken CK, Haq I, Stacy M, McCall WV, Ozelius LJ, Sweadner KJ, Brashear A. Cognitive impairment in rapid-onset dystonia-parkinsonism. Mov Disord. 2014 Mar; 29(3):344-50. PMID: 24436111; PMCID: PMC3960305.
  35. Brashear A, Ozelius LJ, Sweadner KJ. ATP1A3 mutations: what is the phenotype? Neurology. 2014 Feb 11; 82(6):468-9. PMID: 24431297.
    View in: PubMed
  36. Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. Pediatr Neurol. 2014 Apr; 50(4):377-9. PMID: 24491413.
    View in: PubMed
  37. Fuchs T, Ozelius LJ. Genetics in dystonia: an update. Curr Neurol Neurosci Rep. 2013 Dec; 13(12):410. PMID: 24136457; PMCID: PMC3877920.
  38. Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, Roos E, Orbe-Reilly M, Gurevich T, Bar Shira A, Gana Weisz M, Yasinovsky K, Zalis M, Thaler A, Deik A, Barrett MJ, Cabassa J, Groves M, Hunt AL, Lubarr N, San Luciano M, Miravite J, Palmese C, Sachdev R, Sarva H, Severt L, Shanker V, Swan MC, Soto-Valencia J, Johannes B, Ortega R, Fahn S, Cote L, Waters C, Mazzoni P, Ford B, Louis E, Levy O, Rosado L, Ruiz D, Dorovski T, Pauciulo M, Nichols W, Orr-Urtreger A, Ozelius L, Clark L, Giladi N, Bressman S, Marder KS. Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. Mov Disord. 2013 Dec; 28(14):1966-71. PMID: 24243757; PMCID: PMC3859844.
  39. Hutchinson M, Kimmich O, Molloy A, Whelan R, Molloy F, Lynch T, Healy DG, Walsh C, Edwards MJ, Ozelius L, Reilly RB, O'Riordan S. The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia. Mov Disord. 2013 Nov; 28(13):1766-74. PMID: 24108447.
    View in: PubMed
  40. Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol. 2013 Apr; 73(4):537-45. PMID: 23595291.
    View in: PubMed
  41. Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology. 2013 Apr 23; 80(17):1606-10. PMID: 23535491; PMCID: PMC3662322.
  42. Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S, Eidelberg D. Metabolic changes in DYT11 myoclonus-dystonia. Neurology. 2013 Jan 22; 80(4):385-91. PMID: 23284065; PMCID: PMC3589244.
  43. Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Hervé D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013 Jan; 45(1):88-92. PMID: 23222958; PMCID: PMC3530620.
  44. Barrett MJ, Hagenah J, Dhawan V, Peng S, Stanley K, Raymond D, Deik A, Gross SJ, Schreiber-Agus N, Mirelman A, Marder K, Ozelius LJ, Eidelberg D, Bressman SB, Saunders-Pullman R. Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord. 2013 Feb; 19(2):186-91. PMID: 23062841; PMCID: PMC3567285.
  45. Armata IA, Diplas AI, Ozelius LJ, Shashidharan P. Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion. J Nucleic Acids. 2012; 2012:985260. PMID: 22988486; PMCID: PMC3439987.
  46. Brashear A, Cook JF, Hill DF, Amponsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV. Psychiatric disorders in rapid-onset dystonia-parkinsonism. Neurology. 2012 Sep 11; 79(11):1168-73. PMID: 22933743; PMCID: PMC3525305.
  47. Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, Snively B, Light LS, Sweadner KJ, Ozelius LJ, Morrison L. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012 Nov; 54(11):1065-7. PMID: 22924536; PMCID: PMC3465467.
  48. Ozelius LJ. Clinical spectrum of disease associated with ATP1A3 mutations. Lancet Neurol. 2012 Sep; 11(9):741-3. PMID: 22857851.
    View in: PubMed
  49. Barbano RL, Hill DF, Snively BM, Light LS, Boggs N, McCall WV, Stacy M, Ozelius L, Sweadner KJ, Brashear A. New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. Parkinsonism Relat Disord. 2012 Jul; 18(6):737-41. PMID: 22534615; PMCID: PMC3753404.
  50. Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet. 2012; 8(3):e1002559. PMID: 22412388; PMCID: PMC3297573.
  51. Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura K, Nakamura T, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, Ozelius LJ, Bressman SB. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology. 2012 Feb 28; 78(9):649-57. PMID: 22345219; PMCID: PMC3286230.
  52. Fuchs T, Ozelius LJ. Genetics of dystonia. Semin Neurol. 2011 Nov; 31(5):441-8. PMID: 22266882.
    View in: PubMed
  53. San Luciano M, Ozelius L, Lipton RB, Raymond D, Bressman SB, Saunders-Pullman R. Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease. Neurosci Lett. 2012 Jan 11; 506(2):312-6. PMID: 22155094; PMCID: PMC3249002.
  54. Panov F, Tagliati M, Ozelius LJ, Fuchs T, Gologorsky Y, Cheung T, Avshalumov M, Bressman SB, Saunders-Pullman R, Weisz D, Alterman RL. Pallidal deep brain stimulation for DYT6 dystonia. J Neurol Neurosurg Psychiatry. 2012 Feb; 83(2):182-7. PMID: 21949105.
    View in: PubMed
  55. Sengel C, Gavarini S, Sharma N, Ozelius LJ, Bragg DC. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. J Neurochem. 2011 Sep; 118(6):1087-100. PMID: 21752024; PMCID: PMC3166381.
  56. Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM, Wang L. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol. 2012 Feb; 259(2):342-7. PMID: 21800139.
    View in: PubMed
  57. Saunders-Pullman R, Stanley K, Wang C, San Luciano M, Shanker V, Hunt A, Severt L, Raymond D, Ozelius LJ, Lipton RB, Bressman SB. Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology. 2011 Jul 26; 77(4):319-24. PMID: 21753159; PMCID: PMC3140803.
  58. Sharma N, Armata IA, Multhaupt-Buell TJ, Ozelius LJ, Xin W, Sims KB. Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. Mov Disord. 2011 Sep; 26(11):2140-1. PMID: 21674621; PMCID: PMC3175261.
  59. Shanker V, Groves M, Heiman G, Palmese C, Saunders-Pullman R, Ozelius L, Raymond D, Bressman S. Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease. Mov Disord. 2011 Aug 15; 26(10):1875-80. PMID: 21611978; PMCID: PMC3972755.
  60. Peter I, Mitchell AA, Ozelius L, Erazo M, Hu J, Doheny D, Abreu MT, Present DH, Ullman T, Benkov K, Korelitz BI, Mayer L, Desnick RJ. Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. BMC Med Genet. 2011 May 06; 12:63. PMID: 21548950; PMCID: PMC3212904.
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  63. Saunders-Pullman R, Cabassa J, San Luciano M, Stanley K, Raymond D, Ozelius LJ, Bressman SB. LRRK2 G2019S mutations may be increased in Puerto Ricans. Mov Disord. 2011 Aug 01; 26(9):1772-3. PMID: 21449009; PMCID: PMC3140626.
  64. Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R. Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Mov Disord. 2011 Apr; 26(5):885-8. PMID: 21312285; PMCID: PMC3082617.
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  66. De Carvalho Aguiar P, Fuchs T, Borges V, Lamar KM, Silva SM, Ferraz HB, Ozelius L. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord. 2010 Dec 15; 25(16):2854-7. PMID: 20925076.
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  67. Saunders-Pullman R, Barrett MJ, Stanley KM, Luciano MS, Shanker V, Severt L, Hunt A, Raymond D, Ozelius LJ, Bressman SB. LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease. Mov Disord. 2010 Nov 15; 25(15):2536-41. PMID: 20818610; PMCID: PMC2978749.
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  69. Sharma N, Franco RA, Kuster JK, Mitchell AA, Fuchs T, Saunders-Pullman R, Raymond D, Brin MF, Blitzer A, Bressman SB, Ozelius LJ. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord. 2010 Oct 15; 25(13):2183-7. PMID: 20669276; PMCID: PMC3095887.
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  76. Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis. 2010 May; 38(2):192-200. PMID: 20053375.
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  93. Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB. Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 05; 144B(3):361-4. PMID: 17066475; PMCID: PMC3694482.
  94. Ozelius LJ, Foroud T, May S, Senthil G, Sandroni P, Low PA, Reich S, Colcher A, Stern MB, Ondo WG, Jankovic J, Huang N, Tanner CM, Novak P, Gilman S, Marshall FJ, Wooten GF, Chelimsky TC, Shults CW. G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy. Mov Disord. 2007 Mar 15; 22(4):546-9. PMID: 17230458.
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  215. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989 May; 2(5):1427-34. PMID: 2576373.
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  216. Seizinger BR, Farmer GE, Haines JL, Ozelius LJ, Anderson K, Korf BR, Parry DM, Pericak-Vance MA, Mulvihill JJ, Menon A, et al. Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). Am J Hum Genet. 1989 Jan; 44(1):30-2. PMID: 2491778; PMCID: PMC1715468.
  217. Irwin CC, Wexler NS, Young AB, Ozelius LJ, Penney JB, Shoulson I, Snodgrass SR, Ramos-Arroyo MA, Sanchez-Ramos J, Penchaszadeh GK, et al. The role of mitochondrial DNA in Huntington's disease. J Mol Neurosci. 1989; 1(2):129-36. PMID: 2534902.
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  218. Sims KB, de la Chapelle A, Norio R, Sankila EM, Hsu YP, Rinehart WB, Corey TJ, Ozelius L, Powell JF, Bruns G, et al. Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron. 1989 Jan; 2(1):1069-76. PMID: 2483108.
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  219. Ozelius L, Hsu YP, Bruns G, Powell JF, Chen S, Weyler W, Utterback M, Zucker D, Haines J, Trofatter JA, et al. Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism. Genomics. 1988 Jul; 3(1):53-8. PMID: 2906043.
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  220. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, Haines J, Yuen JW, Collins D, Majoor-Krakauer D, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988 Mar 17; 332(6161):268-9. PMID: 2894613.
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  221. Haines JL, Ozelius L, St George-Hyslop P, Wexler NS, Gusella JF, Conneally PM. Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes. Genet Epidemiol. 1988; 5(6):375-80. PMID: 2905314.
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  222. Kramer PL, Ozelius L, Brin MF, Fahn S, Kidd KK, Gusella J, Breakefield XO. Molecular genetics of an autosomal dominant form of torsion dystonia. Adv Neurol. 1988; 50:57-66. PMID: 2899954.
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  223. Seizinger BR, Rouleau GA, Lane AH, Farmer G, Ozelius LJ, Haines JL, Parry DM, Korf BR, Pericak-Vance MA, Faryniarz AG, et al. Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. Genomics. 1987 Dec; 1(4):346-8. PMID: 2896628.
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  224. Seizinger BR, Rouleau G, Lane AH, Ozelius LJ, Faryniarz AG, Iannazzi J, Hobbs W, Roy JC, Falcone B, Huson S, et al. DNA linkage analysis in Von Recklinghausen neurofibromatosis. J Med Genet. 1987 Sep; 24(9):529-30. PMID: 3118032; PMCID: PMC1050259.
  225. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Faryniarz AG, Chao MV, Huson S, Korf BR, Parry DM, Pericak-Vance MA, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell. 1987 Jun 05; 49(5):589-94. PMID: 2884037.
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  226. Seizinger BR, Rouleau G, Ozelius LJ, Lane AH, St George-Hyslop P, Huson S, Gusella JF, Martuza RL. Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science. 1987 Apr 17; 236(4799):317-9. PMID: 3105060.
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  227. Kramer PL, Ozelius L, Gusella JF, Fahn S, Kidd KK, Breakefield XO. Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis. Genet Epidemiol. 1987; 4(5):377-86. PMID: 3692135.
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  228. Breakefield XO, Ozelius L, Bothwell MA, Chao MV, Axelrod F, Kramer PL, Kidd KK, Lanahan AA, Johnson DE, Ross AH, et al. DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. Mol Biol Med. 1986 Dec; 3(6):483-94. PMID: 2886891.
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  229. Ozelius L, Mandel JL, Gusella JF, Breakefield XO. A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113. Nucleic Acids Res. 1986 Aug 26; 14(16):6782. PMID: 3018684; PMCID: PMC311693.
  230. Breakefield XO, Bressman SB, Kramer PL, Ozelius L, Moskowitz C, Tanzi R, Brin MF, Hobbs W, Kaufman D, Tobin A, et al. Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms. J Neurogenet. 1986 May; 3(3):159-75. PMID: 3016220.
    View in: PubMed
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