Harvard Catalyst Profiles

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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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  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. 2019 Feb; 34(2):301-303. PMID: 30536916.
    Citations:    Fields:    
  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.
    Citations:    Fields:    
  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.
    Citations:    Fields:    
  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.
    Citations:    Fields:    
  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.
    Citations: 1     Fields:    
  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 02 22; 172(5):897-909.e21. PMID: 29474918.
    Citations: 2     Fields:    Translation:HumansCells
  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.
    Citations:    Fields:    Translation:HumansAnimalsCells
  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 01 10; 10(423). PMID: 29321258.
    Citations: 4     Fields:    
  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.
    Citations:    Fields:    Translation:Humans
  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.
    Citations: 1     Fields:    Translation:HumansCells
  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.
    Citations:    Fields:    Translation:Humans
  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 07 01; 74(7):806-812. PMID: 28558098.
    Citations:    Fields:    Translation:Humans
  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.
    Citations:    Fields:    Translation:Humans
  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.
    Citations:    Fields:    Translation:Humans
  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.
    Citations: 1     Fields:    Translation:AnimalsCells
  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.
    Citations: 1     
  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.
    Citations: 2     Fields:    Translation:Humans
  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.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  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.
    Citations: 3     Fields:    
  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.
    Citations: 6     Fields:    Translation:Humans
  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.
    Citations: 1     Fields:    Translation:Humans
  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.
    Citations: 8     Fields:    Translation:Humans
  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.
    Citations:    Fields:    Translation:Humans
  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.
    Citations: 2     Fields:    Translation:Humans
  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.
    Citations: 6     Fields:    Translation:Animals
  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.
    Citations: 7     Fields:    Translation:Humans
  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.
    Citations: 6     Fields:    Translation:Animals
  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.
    Citations: 6     Fields:    Translation:Humans
  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.
    Citations: 1     Fields:    Translation:Humans
  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.
    Citations: 19     Fields:    Translation:Humans
  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.
    Citations: 11     Fields:    Translation:Humans
  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.
    Citations: 2     Fields:    Translation:Humans
  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.
    Citations: 14     
  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.
    Citations: 12     Fields:    Translation:HumansCells
  35. Tan AH, Ozelius LJ, Brashear A, Lang AE, Ahmad-Annuar A, Tan CT, Lim SY. Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation. Mov Disord Clin Pract. 2015 Mar; 2(1):74-75. PMID: 30713883.
    Citations:    
  36. 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.
    Citations: 8     Fields:    Translation:Humans
  37. 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.
    Citations: 8     
  38. 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.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  39. 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.
    Citations: 34     Fields:    Translation:Humans
  40. 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.
    Citations: 4     Fields:    Translation:Humans
  41. 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.
    Citations: 2     
  42. 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.
    Citations: 12     Fields:    Translation:Humans
  43. 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.
    Citations: 13     Fields:    Translation:Humans
  44. 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.
    Citations: 50     Fields:    Translation:HumansAnimals
  45. 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.
    Citations: 8     Fields:    Translation:Humans
  46. 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.
    Citations: 12     Fields:    Translation:HumansCTClinical Trials
  47. Brashear A, Ozelius LJ, Sweadner KJ. ATP1A3 mutations: what is the phenotype? Neurology. 2014 Feb 11; 82(6):468-9. PMID: 24431297.
    Citations: 3     Fields:    Translation:Humans
  48. 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.
    Citations: 2     Fields:    Translation:Humans
  49. Fuchs T, Ozelius LJ. Genetics in dystonia: an update. Curr Neurol Neurosci Rep. 2013 Dec; 13(12):410. PMID: 24136457; PMCID: PMC3877920.
    Citations:    Fields:    Translation:Humans
  50. 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.
    Citations: 33     Fields:    Translation:Humans
  51. 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.
    Citations: 11     Fields:    Translation:Humans
  52. 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.
    Citations: 29     Fields:    Translation:HumansCells
  53. 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.
    Citations: 25     Fields:    Translation:Humans
  54. 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.
    Citations: 16     Fields:    Translation:Humans
  55. 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.
    Citations: 67     Fields:    Translation:HumansCells
  56. 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.
    Citations: 4     Fields:    Translation:Humans
  57. 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.
    Citations:    
  58. 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.
    Citations: 16     Fields:    Translation:Humans
  59. 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.
    Citations: 21     Fields:    Translation:Humans
  60. Ozelius LJ. Clinical spectrum of disease associated with ATP1A3 mutations. Lancet Neurol. 2012 Sep; 11(9):741-3. PMID: 22857851.
    Citations: 13     Fields:    Translation:Humans
  61. 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.
    Citations: 8     Fields:    Translation:Humans
  62. 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.
    Citations: 59     Fields:    Translation:HumansCells
  63. 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.
    Citations: 23     Fields:    Translation:Humans
  64. Fuchs T, Ozelius LJ. Genetics of dystonia. Semin Neurol. 2011 Nov; 31(5):441-8. PMID: 22266882.
    Citations: 6     Fields:    Translation:Humans
  65. 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.
    Citations: 2     Fields:    Translation:HumansCells
  66. 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.
    Citations: 11     Fields:    Translation:Humans
  67. 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.
    Citations: 12     Fields:    Translation:HumansCells
  68. 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.
    Citations: 5     Fields:    Translation:HumansCells
  69. 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.
    Citations: 17     Fields:    Translation:Humans
  70. 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.
    Citations: 2     Fields:    Translation:Humans
  71. 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.
    Citations: 12     Fields:    Translation:Humans
  72. 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.
    Citations: 28     Fields:    Translation:Humans
  73. Ozelius LJ, Lubarr N, Bressman SB. Milestones in dystonia. Mov Disord. 2011 May; 26(6):1106-26. PMID: 21626555.
    Citations: 15     Fields:    Translation:Humans
  74. Saunders-Pullman R, Stanley K, San Luciano M, Barrett MJ, Shanker V, Raymond D, Ozelius LJ, Bressman SB. Gender differences in the risk of familial parkinsonism: beyond LRRK2? Neurosci Lett. 2011 Jun 01; 496(2):125-8. PMID: 21511009; PMCID: PMC3111955.
    Citations: 13     Fields:    Translation:Humans
  75. 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.
    Citations:    Fields:    Translation:Humans
  76. 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.
    Citations: 5     Fields:    Translation:Humans
  77. Ozelius LJ, Bressman SB. Genetic and clinical features of primary torsion dystonia. Neurobiol Dis. 2011 May; 42(2):127-35. PMID: 21168499; PMCID: PMC3073739.
    Citations: 17     Fields:    Translation:Humans
  78. 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.
    Citations: 10     Fields:    Translation:Humans
  79. 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.
    Citations: 17     Fields:    Translation:Humans
  80. San Luciano M, Lipton RB, Wang C, Katz M, Zimmerman ME, Sanders AE, Ozelius LJ, Bressman SB, Saunders-Pullman R. Clinical expression of LRRK2 G2019S mutations in the elderly. Mov Disord. 2010 Nov 15; 25(15):2571-6. PMID: 20721910; PMCID: PMC2978804.
    Citations: 6     Fields:    Translation:Humans
  81. 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.
    Citations: 6     Fields:    Translation:Humans
  82. Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich ME, Girard JP, Ozelius LJ. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol. 2010 Oct; 68(4):549-53. PMID: 20865765; PMCID: PMC3038652.
    Citations: 25     Fields:    Translation:HumansAnimalsCells
  83. Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S. Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord. 2010 Jul 30; 25(10):1364-72. PMID: 20629126; PMCID: PMC2914177.
    Citations: 24     Fields:    Translation:Humans
  84. Saunders-Pullman R, Stanley K, Brüggemann N, Raymond D, San Luciano M, Wang C, Klein C, Lubarr N, Ozelius L, Bressman SB, Hagenah J. Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study. Parkinsonism Relat Disord. 2010 Jul; 16(6):420-2. PMID: 20417146; PMCID: PMC2916033.
    Citations: 3     Fields:    Translation:Humans
  85. Svetel M, Ozelius LJ, Buckley A, Lohmann K, Brajkovic L, Klein C, Kostic VS. Rapid-onset dystonia-parkinsonism: case report. J Neurol. 2010 Mar; 257(3):472-4. PMID: 19936820.
    Citations: 8     Fields:    Translation:Humans
  86. Ozelius LJ, Bressman SB. THAP1: role in focal dystonia? Neurology. 2010 Jan 19; 74(3):192-3. PMID: 20083795.
    Citations: 2     Fields:    Translation:Humans
  87. Sanders AE, Wang C, Katz M, Derby CA, Barzilai N, Ozelius L, Lipton RB. Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia. JAMA. 2010 Jan 13; 303(2):150-8. PMID: 20068209; PMCID: PMC3047443.
    Citations: 40     Fields:    Translation:Humans
  88. 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.
    Citations: 7     Fields:    Translation:HumansCells
  89. Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1. PMID: 19652145; PMCID: PMC2833268.
    Citations: 15     Fields:    Translation:Humans
  90. Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May; 8(5):441-6. PMID: 19345147; PMCID: PMC3712754.
    Citations: 49     Fields:    Translation:HumansCells
  91. Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Rakovic A, Schmidt A, Jabusch HC, Wilcox R, Kostic VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol. 2009 May; 8(5):447-52. PMID: 19345148.
    Citations: 39     Fields:    Translation:Humans
  92. Luciano MS, Ozelius L, Sims K, Raymond D, Liu L, Saunders-Pullman R. Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord. 2009 Feb 15; 24(3):425-8. PMID: 19133653.
    Citations: 5     Fields:    Translation:Humans
  93. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009 Mar; 41(3):286-8. PMID: 19182804.
    Citations: 95     Fields:    Translation:HumansCells
  94. Kuncel AM, Turner DA, Ozelius LJ, Greene PE, Grill WM, Stacy MA. Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome. Clin Neurol Neurosurg. 2009 Apr; 111(3):303-6. PMID: 19081669; PMCID: PMC3101371.
    Citations: 14     Fields:    Translation:Humans
  95. Zanotti-Fregonara P, Vidailhet M, Kas A, Ozelius LJ, Clot F, Hindié E, Ravasi L, Devaux JY, Roze E. [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci. 2008 Oct 15; 273(1-2):148-51. PMID: 18675996.
    Citations: 14     Fields:    Translation:Humans
  96. Holtzer R, Ozelius L, Xue X, Wang T, Lipton RB, Verghese J. Differential effects of COMT on gait and executive control in aging. Neurobiol Aging. 2010 Mar; 31(3):523-31. PMID: 18547681; PMCID: PMC2821742.
    Citations: 21     Fields:    Translation:Humans
  97. Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. Mov Disord. 2008 Mar 15; 23(4):588-92. PMID: 18175340.
    Citations: 9     Fields:    Translation:Humans
  98. Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? Neurogenetics. 2008 May; 9(2):143-50. PMID: 18322712.
    Citations:    Fields:    Translation:Humans
  99. Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat. 2008 Feb; 29(2):331-2. PMID: 18205193.
    Citations: 18     Fields:    Translation:HumansCells
  100. Lee JY, Gollamudi S, Ozelius LJ, Kim JY, Jeon BS. ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. Mov Disord. 2007 Sep 15; 22(12):1808-9. PMID: 17595045.
    Citations: 5     Fields:    Translation:Humans
  101. Saunders-Pullman R, Raymond D, Senthil G, Kramer P, Ohmann E, Deligtisch A, Shanker V, Greene P, Tabamo R, Huang N, Tagliati M, Kavanagh P, Soto-Valencia J, Aguiar Pde C, Risch N, Ozelius L, Bressman S. Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A. 2007 Sep 15; 143A(18):2098-105. PMID: 17702011.
    Citations: 26     Fields:    Translation:HumansCells
  102. McKeon A, Ozelius LJ, Hardiman O, Greenway MJ, Pittock SJ. Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. Mov Disord. 2007 Jul 15; 22(9):1325-7. PMID: 17516473.
    Citations: 5     Fields:    Translation:Humans
  103. Borges V, Aguiar Pde C, Ferraz HB, Ozelius LJ. Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. Mov Disord. 2007 Jun 15; 22(8):1208-9. PMID: 17394244.
    Citations: 2     Fields:    Translation:HumansCells
  104. Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet. 2007 Jun; 80(6):1188-93. PMID: 17503336; PMCID: PMC1867106.
    Citations: 36     Fields:    Translation:HumansCells
  105. 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.
    Citations: 7     Fields:    Translation:Humans
  106. 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.
    Citations: 6     Fields:    Translation:Humans
  107. Hess CW, Raymond D, Aguiar Pde C, Frucht S, Shriberg J, Heiman GA, Kurlan R, Klein C, Bressman SB, Ozelius LJ, Saunders-Pullman R. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology. 2007 Feb 13; 68(7):522-4. PMID: 17296918.
    Citations: 21     Fields:    Translation:Humans
  108. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar; 130(Pt 3):828-35. PMID: 17282997.
    Citations: 51     Fields:    Translation:Humans
  109. Zhao Z, Deocharan B, Scherer PE, Ozelius LJ, Putterman C. Differential binding of cross-reactive anti-DNA antibodies to mesangial cells: the role of alpha-actinin. J Immunol. 2006 Jun 15; 176(12):7704-14. PMID: 16751418.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  110. Saunders-Pullman R, Lipton RB, Senthil G, Katz M, Costan-Toth C, Derby C, Bressman S, Verghese J, Ozelius LJ. Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia. Neurosci Lett. 2006 Jul 10; 402(1-2):92-6. PMID: 16632201.
    Citations: 9     Fields:    Translation:Humans
  111. Kock N, Naismith TV, Boston HE, Ozelius LJ, Corey DP, Breakefield XO, Hanson PI. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet. 2006 Apr 15; 15(8):1355-64. PMID: 16537570.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  112. Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology. 2006 Mar 14; 66(5):759-61. PMID: 16534121.
    Citations: 10     Fields:    Translation:HumansCells
  113. Ozelius LJ, Senthil G, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman SB. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2006 Jan 26; 354(4):424-5. PMID: 16436782.
    Citations: 167     Fields:    Translation:Humans
  114. Gilman S, May SJ, Shults CW, Tanner CM, Kukull W, Lee VM, Masliah E, Low P, Sandroni P, Trojanowski JQ, Ozelius L, Foroud T. The North American Multiple System Atrophy Study Group. J Neural Transm (Vienna). 2005 Dec; 112(12):1687-94. PMID: 16284910.
    Citations: 16     Fields:    Translation:HumansAnimals
  115. Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C. Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. J Neurol Neurosurg Psychiatry. 2005 Jun; 76(6):860-2. PMID: 15897512; PMCID: PMC1739687.
    Citations: 4     Fields:    Translation:HumansCells
  116. Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology. 2005 Mar 08; 64(5):908-11. PMID: 15753436.
    Citations: 17     Fields:    Translation:Humans
  117. Zaremba J, Mierzewska H, Lysiak Z, Kramer P, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. Mov Disord. 2004 Dec; 19(12):1506-10. PMID: 15390049.
    Citations: 6     Fields:    Translation:HumansCells
  118. O'Riordan S, Ozelius LJ, de Carvalho Aguiar P, Hutchinson M, King M, Lynch T. Inherited myoclonus-dystonia and epilepsy: further evidence of an association? Mov Disord. 2004 Dec; 19(12):1456-9. PMID: 15389977.
    Citations: 1     Fields:    Translation:Humans
  119. Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S, deLeon D, Ford B, Brin M, Chouinard S, Ozelius L, Klein C, Bressman SB. Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab. 2004 Nov; 83(3):207-12. PMID: 15542391.
    Citations: 8     Fields:    Translation:Humans
  120. Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord. 2004 Oct; 19(10):1146-57. PMID: 15390068.
    Citations: 45     Fields:    Translation:Humans
  121. de Carvalho Aguiar P, Fazzari M, Jankovic J, Ozelius LJ. Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. Mov Disord. 2004 Oct; 19(10):1237-8. PMID: 15368614.
    Citations: 3     Fields:    Translation:Humans
  122. Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB. Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology. 2004 Aug 24; 63(4):631-7. PMID: 15326234.
    Citations: 23     Fields:    Translation:Humans
  123. Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry. 2004 Aug; 75(8):1181-5. PMID: 15258227; PMCID: PMC1739169.
    Citations: 6     Fields:    Translation:Humans
  124. de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22; 43(2):169-75. PMID: 15260953.
    Citations: 122     Fields:    Translation:HumansCells
  125. Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Mov Disord. 2004 Jul; 19(7):845-847. PMID: 15254951.
    Citations: 1     Fields:    Translation:HumansCells
  126. Hewett JW, Kamm C, Boston H, Beauchamp R, Naismith T, Ozelius L, Hanson PI, Breakefield XO, Ramesh V. TorsinB--perinuclear location and association with torsinA. J Neurochem. 2004 Jun; 89(5):1186-94. PMID: 15147511.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  127. Hedrich K, Meyer EM, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl AJ, Tijssen MA, Klein C. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology. 2004 Apr 13; 62(7):1229-31. PMID: 15079037.
    Citations: 7     Fields:    Translation:Humans
  128. Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology. 2004 Feb 10; 62(3):389-94. PMID: 14872018.
    Citations: 36     Fields:    Translation:HumansCells
  129. Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology. 2004 Feb 10; 62(3):395-400. PMID: 14872019.
    Citations: 19     Fields:    Translation:Humans
  130. Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol. 2004 Jan; 55(1):145; author reply 145-6. PMID: 14705128.
    Citations: 8     Fields:    Translation:Humans
  131. Ozelius LJ. Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12. Adv Neurol. 2004; 94:109-12. PMID: 14509662.
    Citations: 3     Fields:    Translation:HumansCells
  132. Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Frequency of parkin mutations in late-onset Parkinson's disease. Ann Neurol. 2003 Sep; 54(3):415-6; author reply 416-7. PMID: 12953277.
    Citations: 7     Fields:    Translation:Humans
  133. Foncke EM, Klein C, Koelman JH, Kramer PL, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman JD, Ozelius LJ, Tijssen MA. Hereditary myoclonus-dystonia associated with epilepsy. Neurology. 2003 Jun 24; 60(12):1988-90. PMID: 12821748.
    Citations: 3     Fields:    Translation:HumansCells