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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.
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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 Mar 30. PMID: 29603409.
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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.
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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.
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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.
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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.
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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 Jan 01; 28(1):158-166. PMID: 29117296.
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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 Dec 19; 114(51):E11020-E11028. PMID: 29229810.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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].
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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.
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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.
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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].
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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].
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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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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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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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.
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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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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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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Ozelius LJ. Clinical spectrum of disease associated with ATP1A3 mutations. Lancet Neurol. 2012 Sep; 11(9):741-3. PMID: 22857851.
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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.
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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.
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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.
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Fuchs T, Ozelius LJ. Genetics of dystonia. Semin Neurol. 2011 Nov; 31(5):441-8. PMID: 22266882.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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Ozelius LJ, Lubarr N, Bressman SB. Milestones in dystonia. Mov Disord. 2011 May; 26(6):1106-26. PMID: 21626555.
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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.
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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.
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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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Ozelius LJ, Bressman SB. Genetic and clinical features of primary torsion dystonia. Neurobiol Dis. 2011 May; 42(2):127-35. PMID: 21168499; PMCID: PMC3073739.
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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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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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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.
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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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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.
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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.
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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.
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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.
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Ozelius LJ, Bressman SB. THAP1: role in focal dystonia? Neurology. 2010 Jan 19; 74(3):192-3. PMID: 20083795.
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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.
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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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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Hewett J, Ziefer P, Bergeron D, Naismith T, Boston H, Slater D, Wilbur J, Schuback D, Kamm C, Smith N, Camp S, Ozelius LJ, Ramesh V, Hanson PI, Breakefield XO. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J Neurosci Res. 2003 Apr 15; 72(2):158-68. PMID: 12671990.
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Rostasy K, Augood SJ, Hewett JW, Leung JC, Sasaki H, Ozelius LJ, Ramesh V, Standaert DG, Breakefield XO, Hedreen JC. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003 Feb; 12(1):11-24. PMID: 12609485.
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Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Hagenah J, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology. 2002 Dec 10; 59(11):1783-6. PMID: 12473771.
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Bressman SB, Raymond D, Wendt K, Saunders-Pullman R, De Leon D, Fahn S, Ozelius L, Risch N. Diagnostic criteria for dystonia in DYT1 families. Neurology. 2002 Dec 10; 59(11):1780-2. PMID: 12473770.
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Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet. 2002 Dec; 71(6):1303-11. PMID: 12444570; PMCID: PMC378568.
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Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol. 2002 Nov; 52(5):675-9. PMID: 12402271.
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Doheny D, Danisi F, Smith C, Morrison C, Velickovic M, De Leon D, Bressman SB, Leung J, Ozelius L, Klein C, Breakefield XO, Brin MF, Silverman JM. Clinical findings of a myoclonus-dystonia family with two distinct mutations. Neurology. 2002 Oct 22; 59(8):1244-6. PMID: 12391355.
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Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM. Phenotypic features of myoclonus-dystonia in three kindreds. Neurology. 2002 Oct 22; 59(8):1187-96. PMID: 12391346.
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Ikeuchi T, Nomura Y, Segawa M, Ozelius LJ, Shimohata T, Tsuji S. Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. Neurogenetics. 2002 Oct; 4(2):105-6. PMID: 12481989.
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de Carvalho Aguiar PM, Ozelius LJ. Classification and genetics of dystonia. Lancet Neurol. 2002 Sep; 1(5):316-25. PMID: 12849429.
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Klein C, Ozelius LJ. Dystonia: clinical features, genetics, and treatment. Curr Opin Neurol. 2002 Aug; 15(4):491-7. PMID: 12151848.
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Kock N, Culjkovic B, Maniak S, Schilling K, Müller B, Zühlke C, Ozelius L, Klein C, Pramstaller PP, Kramer PL. Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q. Am J Hum Genet. 2002 Jul; 71(1):205-8; author reply 208. PMID: 12068378; PMCID: PMC384982.
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Ziefer P, Leung J, Razzano T, Shalish C, LeDoux MS, Lorden JF, Ozelius L, Breakefield XO, Standaert DG, Augood SJ. Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat. Brain Res Mol Brain Res. 2002 May 30; 101(1-2):132-5. PMID: 12007841.
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Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol. 2002 May; 51(5):621-5. PMID: 12112109.
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Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss WD. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett. 2002 Apr 19; 323(1):50-4. PMID: 11911988.
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Kann M, Hedrich K, Vieregge P, Jacobs H, Müller B, Kock N, Schwinger E, Klein C, Marder K, Harris J, Meija-Santana H, Bressman S, Ozelius LJ, Lang AE, Pramstaller PP. The parkin gene is not involved in late-onset Parkinson's disease. Neurology. 2002 Mar 12; 58(5):835; author reply 835. PMID: 11889262.
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Opal P, Tintner R, Jankovic J, Leung J, Breakefield XO, Friedman J, Ozelius L. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord. 2002 Mar; 17(2):339-45. PMID: 11921121.
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Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord. 2002 Mar; 17(2):424-6. PMID: 11921141.
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Saunders-Pullman R, Shriberg J, Heiman G, Raymond D, Wendt K, Kramer P, Schilling K, Kurlan R, Klein C, Ozelius LJ, Risch NJ, Bressman SB. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology. 2002 Jan 22; 58(2):242-5. PMID: 11805251.
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Saunders-Pullman R, Ozelius L, Bressman SB. Inherited myoclonus-dystonia. Adv Neurol. 2002; 89:185-91. PMID: 11968443.
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Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet. 2001 Aug 01; 10(16):1649-56. PMID: 11487568.
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Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics. 2001 Jul; 3(3):133-43. PMID: 11523564.
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Sharma N, Hewett J, Ozelius LJ, Ramesh V, McLean PJ, Breakefield XO, Hyman BT. A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol. 2001 Jul; 159(1):339-44. PMID: 11438481; PMCID: PMC1850427.
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Bressman SB, Fahn S, Ozelius LJ, Kramer PL, Risch NJ. The DYT1 mutation and nonfamilial primary torsion dystonia. Arch Neurol. 2001 Apr; 58(4):681-2. PMID: 11296011.
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Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss WD, Pramstaller PP. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol. 2001 Mar; 49(3):367-76. PMID: 11261512.
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Friedman JR, Klein C, Leung J, Woodward H, Ozelius LJ, Breakefield XO, Charness ME. The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology. 2000 Nov 14; 55(9):1417-8. PMID: 11087801.
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Klein C, Schumacher K, Jacobs H, Hagenah J, Kis B, Garrels J, Schwinger E, Ozelius L, Pramstaller P, Vieregge P, Kramer PL. Association studies of Parkinson's disease and parkin polymorphisms. Ann Neurol. 2000 Jul; 48(1):126-7. PMID: 10894229.
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Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol. 2000 Jul; 48(1):65-71. PMID: 10894217.
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Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P. [Genetics of dystonia]. Nervenarzt. 2000 Jun; 71(6):431-41. PMID: 10919137.
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Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby DJ, Ozelius LJ, Ramesh V, Breakefield XO. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet. 2000 May 22; 9(9):1403-13. PMID: 10814722.
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Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000 May 09; 54(9):1746-52. PMID: 10802779.
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Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin MF, Ebersole BJ, Fink S, Forsgren L, Friedman J, Grimes D, Holmgren G, Kyllerman M, Lang AE, de Leon D, Leung J, Prioleau C, Raymond D, Sanner G, Saunders-Pullman R, Vieregge P, Wahlström J, Breakefield XO, Kramer PL, Ozelius LJ, Sealfon SC. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol. 2000 Mar; 47(3):369-73. PMID: 10716258.
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Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics. 1999 Dec 15; 62(3):377-84. PMID: 10644435.
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Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol. 1999 Nov; 46(5):794-8. PMID: 10554001.
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Augood SJ, Martin DM, Ozelius LJ, Breakefield XO, Penney JB, Standaert DG. Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Ann Neurol. 1999 Nov; 46(5):761-9. PMID: 10553994.
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Sieberer MG, Vieregge P, Klein C, Ozelius LJ, Wandinger KP. Concordant late onset of craniocervical dystonia in a pair of monozygotic twins. Mov Disord. 1999 Nov; 14(6):1040-3. PMID: 10584687.
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Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999 Aug; 46(2):176-82. PMID: 10443882.
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Klein C, Vieregge P, Hagenah J, Sieberer M, Doyle E, Jacobs H, Gasser T, Breakefield XO, Risch NJ, Ozelius LJ. Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany. Ann Hum Genet. 1999 Jul; 63(Pt 4):285-91. PMID: 10738540.
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Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci U S A. 1999 Apr 27; 96(9):5173-6. PMID: 10220438; PMCID: PMC21836.
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Chadwick BP, Campbell LJ, Jackson CL, Ozelius L, Slaugenhaupt SA, Stephenson DA, Edwards JH, Wiest J, Povey S. Report and abstracts of the Sixth International Workshop on chromosome 9. Ann Hum Genet. 1999 Mar; 63(Pt 2):101-24. PMID: 10738523.
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Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, Breakefield XO, Brin MF, Ozelius LJ. Genetic analysis of three patients with an 18p- syndrome and dystonia. Neurology. 1999 Feb; 52(3):649-51. PMID: 10025808.
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Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat. 1999; 14(5):412-22. PMID: 10533067.
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Klein C, Breakefield XO, Ozelius LJ. Genetics of primary dystonia. Semin Neurol. 1999; 19(3):271-80. PMID: 12194383.
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Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test. 1999; 3(4):323-8. PMID: 10627938.
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Klein C, Ozelius LJ, Hagenah J, Breakefield XO, Risch NJ, Vieregge P. Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet. 1998 Dec; 63(6):1777-82. PMID: 9837831; PMCID: PMC1377650.
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Rutter JL, Mitchell TI, Butticè G, Meyers J, Gusella JF, Ozelius LJ, Brinckerhoff CE. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res. 1998 Dec 01; 58(23):5321-5. PMID: 9850057.
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Klein C, Vieregge P, Heide W, Kemper B, Hagedorn-Greiwe M, Hagenah J, Vollmer C, Breakefield XO, Kömpf D, Ozelius L. Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics. 1998 Nov 15; 54(1):176-7. PMID: 9806847.
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Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol. 1998 Sep; 44(3):394-8. PMID: 9749609.
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Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman A, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet. 1998 Jul; 7(7):1133-6. PMID: 9618171.
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Augood SJ, Penney JB, Friberg IK, Breakefield XO, Young AB, Ozelius LJ, Standaert DG. Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann Neurol. 1998 May; 43(5):669-73. PMID: 9585364.
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Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat. 1998; 12(6):408-16. PMID: 9829910.
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Bressman SB, de Leon D, Raymond D, Greene PE, Brin MF, Fahn S, Ozelius LJ, Breakefield XO, Kramer PL, Risch NJ. The role of the DYT1 gene in secondary dystonia. Adv Neurol. 1998; 78:107-15. PMID: 9750907.
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Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, Fahn S, Gusella JF, Breakefield XO. The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol. 1998; 78:93-105. PMID: 9750906.
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Brashear A, Butler IJ, Ozelius LJ, Kramer PI, Farlow MR, Breakefield XO, Dobyns WB. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998; 78:335-9. PMID: 9750930.
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Bressman SB, de Leon D, Raymond D, Ozelius LJ, Breakefield XO, Nygaard TG, Almasy L, Risch NJ, Kramer PL. Clinical-genetic spectrum of primary dystonia. Adv Neurol. 1998; 78:79-91. PMID: 9750905.
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Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep; 17(1):40-8. PMID: 9288096.
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Bressman SB, de Leon D, Raymond D, Greene PE, Brin MF, Fahn S, Ozelius LJ, Breakefield XO, Kramer PL, Risch NJ. Secondary dystonia and the DYTI gene. Neurology. 1997 Jun; 48(6):1571-7. PMID: 9191768.
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Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, Rutter M, Risch N, Brin MF, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, McCormick MK, Fahn S, Buckler AJ, Gusella JF, Breakefield XO. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 1997 May; 7(5):483-94. PMID: 9149944.
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McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet. 1997 Jan; 60(1):133-42. PMID: 8981956; PMCID: PMC1712569.
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Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO. Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. Mov Disord. 1996 Mar; 11(2):163-6. PMID: 8684386.
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Gasser T, Wszolek Z, Supala A, Trofatter J, Ozelius L, Uitti RJ, Pfeiffer RF, Gusella J, Calne D, Breakefield XO. Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. Adv Neurol. 1996; 69:87-95. PMID: 8615189.
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Holmgren G, Ozelius L, Forsgren L, Almay BG, Holmberg M, Kramer P, Fahn S, Breakefield XO. Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry. 1995 Aug; 59(2):178-81. PMID: 7629534; PMCID: PMC485995.
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Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet. 1995 Feb; 9(2):152-9. PMID: 7719342.
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Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol. 1994 Nov; 36(5):771-7. PMID: 7979224.
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Ozelius LJ, Breakefield XO. Co-factor insufficiency in dystonia-parkinsonian syndrome. Nat Genet. 1994 Nov; 8(3):207-9. PMID: 7874157.
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Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet. 1994 Sep; 55(3):468-75. PMID: 8079990; PMCID: PMC1918396.
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Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep; 36(3):387-96. PMID: 7915897.
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Wahlström J, Ozelius L, Kramer P, Kyllerman M, Schuback D, Forsgren L, Holmgren G, Drugge U, Sanner G, Fahn S, et al. The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. Clin Genet. 1994 Feb; 45(2):88-92. PMID: 8004804.
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Bressman SB, Heiman GA, Nygaard TG, Ozelius LJ, Hunt AL, Brin MF, Gordon MF, Moskowitz CB, de Leon D, Burke RE, et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology. 1994 Feb; 44(2):283-7. PMID: 8309575.
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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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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.
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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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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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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.
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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.
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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.
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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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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.
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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.
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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.
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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.