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Laurie Ozelius, Ph.D., Sc.D.

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Research
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.
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  1. P01NS087997 (BREAKEFIELD, XANDRA OWENS) Jul 1, 2015 - Jun 30, 2020
    NIH/NINDS
    Molecular etiology of early onset dystonia
    Role: Co-Principal Investigator
  2. 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
  3. R21NS075881 (OZELIUS, LAURIE J.) Feb 15, 2012 - Jan 31, 2014
    NIH/NINDS
    Gene discovery in primary dystonia using whole exome sequencing
    Role: Principal Investigator
  4. R21RR026123 (OZELIUS, LAURIE J.) Mar 1, 2010 - Feb 29, 2012
    NIH/NCRR
    Creation of mouse models for DYT6 dystonia
    Role: Principal Investigator
  5. P01NS044233 (LOW, PHILLIP A) Jul 1, 2002 - Jul 31, 2015
    NIH/NINDS
    Pathogenesis and Diagnosis of Multiple System Atrophy (P01)
    Role: Co-Principal Investigator

Bibliographic
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. Sarva H, Trosch R, Kiss ZHT, Furtado S, Luciano MS, Glickman A, Raymond D, Ozelius LJ, Bressman SB, Saunders-Pullman R. Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. Mov Disord. 2018 Dec 10. PMID: 30536916.
    View in: PubMed
  2. Masuho I, Chavali S, Muntean BS, Skamangas NK, Simonyan K, Patil DN, Kramer GM, Ozelius L, Babu MM, Martemyanov KA. Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling. Cell Rep. 2018 Jul 17; 24(3):557-568.e5. PMID: 30021154.
    View in: PubMed
  3. Lencz T, Yu J, Palmer C, Carmi S, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüs ZH, Joseph V, Klein R, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Atzmon G, Pe'er I. High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation. Hum Genet. 2018 Apr; 137(4):343-355. PMID: 29705978.
    View in: PubMed
  4. Mirelman A, Saunders-Pullman R, Alcalay RN, Shustak S, Thaler A, Gurevich T, Raymond D, Mejia-Santana H, Orbe Reilly M, Ozelius L, Clark L, Gana-Weisz M, Bar-Shira A, Orr-Utreger A, Bressman SB, Marder K, Giladi N. Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers. Mov Disord. 2018 Jul; 33(6):966-973. PMID: 29603409.
    View in: PubMed
  5. Saunders-Pullman R, Mirelman A, Alcalay RN, Wang C, Ortega RA, Raymond D, Mejia-Santana H, Orbe-Reilly M, Johannes BA, Thaler A, Ozelius L, Orr-Urtreger A, Marder KS, Giladi N, Bressman SB. Progression in the LRRK2-Asssociated Parkinson Disease Population. JAMA Neurol. 2018 Mar 01; 75(3):312-319. PMID: 29309488.
    View in: PubMed
  6. Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 Feb 22; 172(5):897-909.e21. PMID: 29474918.
    View in: PubMed
  7. Zakirova Z, Fanutza T, Bonet J, Readhead B, Zhang W, Yi Z, Beauvais G, Zwaka TP, Ozelius LJ, Blitzer RD, Gonzalez-Alegre P, Ehrlich ME. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. PLoS Genet. 2018 01; 14(1):e1007169. PMID: 29364887.
    View in: PubMed
  8. Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Sci Transl Med. 2018 Jan 10; 10(423). PMID: 29321258.
    View in: PubMed
  9. Putzel GG, Battistella G, Rumbach AF, Ozelius LJ, Sabuncu MR, Simonyan K. Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity. Cereb Cortex. 2018 01 01; 28(1):158-166. PMID: 29117296.
    View in: PubMed
  10. Bragg DC, Mangkalaphiban K, Vaine CA, Kulkarni NJ, Shin D, Yadav R, Dhakal J, Ton ML, Cheng A, Russo CT, Ang M, Acuña P, Go C, Franceour TN, Multhaupt-Buell T, Ito N, Müller U, Hendriks WT, Breakefield XO, Sharma N, Ozelius LJ. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proc Natl Acad Sci U S A. 2017 12 19; 114(51):E11020-E11028. PMID: 29229810.
    View in: PubMed
  11. Blitzer A, Brin MF, Simonyan K, Ozelius LJ, Frucht SJ. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. Laryngoscope. 2018 01; 128 Suppl 1:S1-S9. PMID: 29219190.
    View in: PubMed
  12. 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
  13. 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 10; 58:239.e1-239.e7. PMID: 28728889.
    View in: PubMed
  14. 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
  15. 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 07 11; 9(1):92-107. PMID: 28579396.
    View in: PubMed
  16. 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
  17. 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 04; 32(4):560-568. PMID: 28186656.
    View in: PubMed
  18. 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
  19. 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
  20. 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 10; 23(10):1517-27. PMID: 27346568.
    View in: PubMed
  21. 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 10; 155(4):624-8. PMID: 27188707.
    View in: PubMed
  22. 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.
    View in: PubMed, PubMed Central
  23. 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
  24. 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 05; 31(5):750-5. PMID: 27093447; PMCID: PMC4933312 [Available on 05/01/17].
    View in: PubMed, PubMed Central
  25. 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.
    View in: PubMed, PubMed Central
  26. 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.
    View in: PubMed, PubMed Central
  27. 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].
    View in: PubMed, PubMed Central
  28. 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].
    View in: PubMed, PubMed Central
  29. 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 05; 18(5):522-8. PMID: 26334176.
    View in: PubMed
  30. 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.
    View in: PubMed, PubMed Central
  31. 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.
    View in: PubMed, PubMed Central
  32. 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.
    View in: PubMed, PubMed Central
  33. 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.
    View in: PubMed, PubMed Central
  34. 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.
    View in: PubMed, PubMed Central
  35. 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.
    View in: PubMed, PubMed Central
  36. 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.
    View in: PubMed, PubMed Central
  37. 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.
    View in: PubMed, PubMed Central
  38. 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.
    View in: PubMed, PubMed Central
  39. 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.
    View in: PubMed, PubMed Central
  40. 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.
    View in: PubMed
  41. 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.
    View in: PubMed, PubMed Central
  42. 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.
    View in: PubMed, PubMed Central
  43. 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.
    View in: PubMed, PubMed Central
  44. 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.
    View in: PubMed, PubMed Central
  45. 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.
    View in: PubMed, PubMed Central
  46. Brashear A, Ozelius LJ, Sweadner KJ. ATP1A3 mutations: what is the phenotype? Neurology. 2014 Feb 11; 82(6):468-9. PMID: 24431297.
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  47. 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.
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  48. Fuchs T, Ozelius LJ. Genetics in dystonia: an update. Curr Neurol Neurosci Rep. 2013 Dec; 13(12):410. PMID: 24136457; PMCID: PMC3877920.
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  49. 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.
    View in: PubMed, PubMed Central
  50. 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.
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  51. 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.
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  52. 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.
    View in: PubMed, PubMed Central
  53. 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.
    View in: PubMed, PubMed Central
  54. 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.
    View in: PubMed, PubMed Central
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  202. Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO. Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec; 43(12):2596-602. PMID: 8255463.
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  203. Henske EP, Ozelius L, Gusella JF, Haines JL, Kwiatkowski DJ. A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91. PMID: 8244374.
    View in: PubMed
  204. Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun; 4(2):160-4. PMID: 8102296.
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  205. Yan W, Boustany RM, Konradi C, Ozelius L, Lerner T, Trofatter JA, Julier C, Breakefield XO, Gusella JF, Haines JL. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet. 1993 Jan; 52(1):89-95. PMID: 8434611; PMCID: PMC1682098.
    View in: PubMed, PubMed Central
  206. Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO, et al. Exclusion of familial dysautonomia from more than 60% of the genome. J Med Genet. 1993 Jan; 30(1):47-52. PMID: 8093738; PMCID: PMC1016234.
    View in: PubMed, PubMed Central
  207. Mikati MA, Maguire H, Barlow CF, Ozelius L, Breakefield XO, Klauck SM, Korf B, O'Tuama SL, Dangond F. A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. Neurology. 1992 Dec; 42(12):2251-7. PMID: 1361034.
    View in: PubMed
  208. Ozelius LJ, Kwiatkowski DJ, Schuback DE, Breakefield XO, Wexler NS, Gusella JF, Haines JL. A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20. PMID: 1427899.
    View in: PubMed
  209. Henske EP, Ozelius L, Anderson MA, Kwiatkowski DJ. A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34. Genomics. 1992 Jul; 13(3):841-4. PMID: 1639411.
    View in: PubMed
  210. Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141. PMID: 1284469.
    View in: PubMed
  211. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, et al. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet. 1992 Mar; 50(3):619-28. PMID: 1347197; PMCID: PMC1684274.
    View in: PubMed, PubMed Central
  212. Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J. Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb; 12(2):229-40. PMID: 1339384.
    View in: PubMed
  213. Konradi C, Ozelius L, Breakefield XO. Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene. Genomics. 1992 Jan; 12(1):176-7. PMID: 1733859.
    View in: PubMed
  214. Schuback DE, Ozelius L, Breakefield XO. BanI RFLP at AK1 locus (9q34). Nucleic Acids Res. 1991 Oct 25; 19(20):5798. PMID: 1682884; PMCID: PMC329008.
    View in: PubMed, PubMed Central
  215. Konradi C, Ozelius L, Yan W, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism (D16S285) on human chromosome 16. Nucleic Acids Res. 1991 Oct 11; 19(19):5449. PMID: 1923837; PMCID: PMC328929.
    View in: PubMed, PubMed Central
  216. Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO. Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet. 1991 Aug; 49(2):366-71. PMID: 1867195; PMCID: PMC1683303.
    View in: PubMed, PubMed Central
  217. Schuback D, Kramer P, Ozelius L, Holmgren G, Forsgren L, Kyllerman M, Wahlström J, Craft CM, Nygaard T, Brin M, et al. Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. Hum Genet. 1991 Jul; 87(3):311-6. PMID: 1677923.
    View in: PubMed
  218. Tzall S, Martiniuk F, Ozelius L, Gusella J, Hirschhorn R. Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res. 1991 Apr 11; 19(7):1727. PMID: 1674146; PMCID: PMC333968.
    View in: PubMed, PubMed Central
  219. Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet. 1991 Jan; 48(1):121-8. PMID: 1985454; PMCID: PMC1682762.
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  220. Haines JL, Ozelius LJ, McFarlane H, Menon A, Tzall S, Martiniuk F, Hirschhorn R, Gusella JF. A genetic linkage map of chromosome 17. Genomics. 1990 Sep; 8(1):1-6. PMID: 2081586.
    View in: PubMed
  221. Kramer PL, de Leon D, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Burke RE, Kwiatkowski DJ, Shale H, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol. 1990 Feb; 27(2):114-20. PMID: 2317008.
    View in: PubMed
  222. Schuback DE, Ozelius L, Hu G, Craft CM, Raese J, Breakefield XO, Hsu YP. RFLP for human DBH (dopamine beta-hydroxylase). Nucleic Acids Res. 1990 Jan 25; 18(2):387. PMID: 1970168; PMCID: PMC330306.
    View in: PubMed, PubMed Central
  223. Ozelius L, Gusella JF, Breakefield XO. MspI RFLP for human MAOA gene. Nucleic Acids Res. 1989 Dec 25; 17(24):10516. PMID: 2481273; PMCID: PMC335341.
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  224. Sims KB, Ozelius L, Corey T, Rinehart WB, Liberfarb R, Haines J, Chen WJ, Norio R, Sankila E, de la Chapelle A, et al. Norrie disease gene is distinct from the monoamine oxidase genes. Am J Hum Genet. 1989 Sep; 45(3):424-34. PMID: 2773935; PMCID: PMC1683412.
    View in: PubMed, PubMed Central
  225. Kwiatkowski DJ, Ozelius L, Schuback D, Gusella J, Breakefield XO. The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. Nucleic Acids Res. 1989 Jun 12; 17(11):4425. PMID: 2567988; PMCID: PMC317994.
    View in: PubMed, PubMed Central
  226. 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.
    View in: PubMed
  227. 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.
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  228. 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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  229. 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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  230. 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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  231. 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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  232. 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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  233. 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.
    View in: PubMed
  234. 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.
    View in: PubMed
  235. 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.
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  236. 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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  237. 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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  238. 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.
    View in: PubMed
  239. 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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  240. 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.
    View in: PubMed, PubMed Central
  241. 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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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.