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Items: 1 to 50 of 242

1.

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

Lencz T, Yu J, Palmer C, Carmi S, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüş ZH, Joseph V, Klein R, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Atzmon G, Pe'er I.

Hum Genet. 2018 Apr;137(4):343-355. doi: 10.1007/s00439-018-1886-z. Epub 2018 Apr 28.

PMID:
29705978
2.

Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.

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; AJ LRRK2 Consortium.

Mov Disord. 2018 Mar 30. doi: 10.1002/mds.27342. [Epub ahead of print]

PMID:
29603409
3.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

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.

Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011.

PMID:
29474918
4.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 7 [updated 2018 Feb 22].

5.

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.

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.

PLoS Genet. 2018 Jan 24;14(1):e1007169. doi: 10.1371/journal.pgen.1007169. eCollection 2018 Jan.

6.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

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.

Sci Transl Med. 2018 Jan 10;10(423). pii: eaai7795. doi: 10.1126/scitranslmed.aai7795.

7.

Progression in the LRRK2-Asssociated Parkinson Disease Population.

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; LRRK2 Ashkenazi Jewish Consortium.

JAMA Neurol. 2018 Mar 1;75(3):312-319. doi: 10.1001/jamaneurol.2017.4019.

PMID:
29309488
8.

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.

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.

Proc Natl Acad Sci U S A. 2017 Dec 19;114(51):E11020-E11028. doi: 10.1073/pnas.1712526114. Epub 2017 Dec 11.

9.

Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

Blitzer A, Brin MF, Simonyan K, Ozelius LJ, Frucht SJ.

Laryngoscope. 2018 Jan;128 Suppl 1:S1-S9. doi: 10.1002/lary.27003. Epub 2017 Dec 8. Review.

PMID:
29219190
10.

Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.

Putzel GG, Battistella G, Rumbach AF, Ozelius LJ, Sabuncu MR, Simonyan K.

Cereb Cortex. 2018 Jan 1;28(1):158-166. doi: 10.1093/cercor/bhw363.

PMID:
29117296
11.

Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers.

Moran EE, Wang C, Katz M, Ozelius L, Schwartz A, Pavlovic J, Ortega RA, Lipton RB, Zimmerman ME, Saunders-Pullman R.

Neurobiol Aging. 2017 Oct;58:239.e1-239.e7. doi: 10.1016/j.neurobiolaging.2017.06.010. Epub 2017 Jun 24.

PMID:
28728889
12.

Screening study of TUBB4A in isolated dystonia.

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.

Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10.

PMID:
28655586
13.

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.

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.

Stem Cell Reports. 2017 Jul 11;9(1):92-107. doi: 10.1016/j.stemcr.2017.04.032. Epub 2017 Jun 1.

14.

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

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.

JAMA Neurol. 2017 Jul 1;74(7):806-812. doi: 10.1001/jamaneurol.2017.0666.

15.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

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 Jr, 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.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

16.

Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.

Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K.

Mov Disord. 2017 Apr;32(4):560-568. doi: 10.1002/mds.26920. Epub 2017 Feb 10.

17.

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

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.

Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016.11.012. Epub 2016 Dec 8.

18.

DYT1 Early-Onset Isolated Dystonia.

Ozelius L, Lubarr N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Apr 14 [updated 2016 Nov 17].

19.

Neuropsychiatric characteristics of GBA-associated Parkinson disease.

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.

J Neurol Sci. 2016 Nov 15;370:63-69. doi: 10.1016/j.jns.2016.08.059. Epub 2016 Aug 30.

20.

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia.

Battistella G, Fuertinger S, Fleysher L, Ozelius LJ, Simonyan K.

Eur J Neurol. 2016 Oct;23(10):1517-27. doi: 10.1111/ene.13067. Epub 2016 Jun 27.

21.

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N.

Otolaryngol Head Neck Surg. 2016 Oct;155(4):624-8. doi: 10.1177/0194599816648293. Epub 2016 May 17.

22.

GNAL mutation in isolated laryngeal dystonia.

Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K.

Mov Disord. 2016 May;31(5):750-5. doi: 10.1002/mds.26502. Epub 2016 Feb 1.

23.

Cholesteryl ester transfer protein genotype modifies the effect of apolipoprotein ε4 on memory decline in older adults.

Sundermann EE, Wang C, Katz M, Zimmerman ME, Derby CA, Hall CB, Ozelius LJ, Lipton RB.

Neurobiol Aging. 2016 May;41:200.e7-200.e12. doi: 10.1016/j.neurobiolaging.2016.02.006. Epub 2016 Feb 16.

24.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A.

PLoS One. 2016 Mar 18;11(3):e0151429. doi: 10.1371/journal.pone.0151429. eCollection 2016.

25.

A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.

Liu YB, Tewari A, Salameh J, Arystarkhova E, Hampton TG, Brashear A, Ozelius LJ, Khodakhah K, Sweadner KJ.

Elife. 2015 Dec 24;4. pii: e11102. doi: 10.7554/eLife.11102.

26.

Neural correlates of abnormal sensory discrimination in laryngeal dystonia.

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.

Neuroimage Clin. 2015 Oct 30;10:18-26. doi: 10.1016/j.nicl.2015.10.016. eCollection 2016.

27.

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

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.

Hum Mol Genet. 2015 Dec 20;24(25):7159-70. doi: 10.1093/hmg/ddv384. Epub 2015 Sep 16.

28.

REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.

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; AJ LRRK2 Consortium.

Mov Disord. 2015 Nov;30(13):1834-9. doi: 10.1002/mds.26413. Epub 2015 Sep 14.

29.

Expanded genetic screening panel for the Ashkenazi Jewish population.

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.

Genet Med. 2016 May;18(5):522-8. doi: 10.1038/gim.2015.123. Epub 2015 Sep 3.

30.

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.

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; LRRK2 Ashkenazi Jewish Consortium.

Neurology. 2015 Jul 7;85(1):89-95. doi: 10.1212/WNL.0000000000001708. Epub 2015 Jun 10.

31.

Variants associated with Gaucher disease in multiple system atrophy.

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.

Ann Clin Transl Neurol. 2015 Apr;2(4):417-26. doi: 10.1002/acn3.185. Epub 2015 Feb 28.

32.

Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.

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; LRRK2 AJ consortium.

Mov Disord. 2015 Jun;30(7):981-6. doi: 10.1002/mds.26213. Epub 2015 Mar 21.

33.

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

de Carvalho Aguiar P, Borges V, Ferraz HB, Ozelius LJ.

Mov Disord. 2015 May;30(6):877-8. doi: 10.1002/mds.26175. Epub 2015 Mar 4. No abstract available.

34.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

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.

Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.

35.

Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?

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.

Ann Clin Transl Neurol. 2014 Sep;1(9):670-8. doi: 10.1002/acn3.95. Epub 2014 Sep 30.

36.

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease.

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; LRRK2 Ashkenazi Jewish Consortium.

Parkinsonism Relat Disord. 2015 Feb;21(2):106-10. doi: 10.1016/j.parkreldis.2014.09.033. Epub 2014 Nov 20.

37.

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.

Ortiz-Virumbrales M, Ruiz M, Hone E, Dolios G, Wang R, Morant A, Kottwitz J, Ozelius LJ, Gandy S, Ehrlich ME.

Acta Neuropathol Commun. 2014 Sep 18;2:139. doi: 10.1186/s40478-014-0139-1.

38.

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

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.

Nat Commun. 2014 Sep 9;5:4835. doi: 10.1038/ncomms5835.

39.

Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives.

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.

J Genet Couns. 2015 Apr;24(2):238-46. doi: 10.1007/s10897-014-9756-x. Epub 2014 Aug 17.

40.

Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.

Barrett MJ, Shanker VL, Severt WL, Raymond D, Gross SJ, Schreiber-Agus N, Kornreich R, Ozelius LJ, Bressman SB, Saunders-Pullman R.

JIMD Rep. 2014;16:31-8. doi: 10.1007/8904_2014_315. Epub 2014 May 22.

41.

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

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.

Hum Mol Genet. 2014 Sep 1;23(17):4693-702. doi: 10.1093/hmg/ddu158. Epub 2014 May 19.

42.

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

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.

Acta Neuropathol. 2014 Jul;128(1):81-98. doi: 10.1007/s00401-014-1279-x. Epub 2014 May 7.

43.

Distinct neurological disorders with ATP1A3 mutations.

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; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

44.

Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Saunders-Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R, Deik A, Ozelius LJ, Bressman SB.

Mov Disord. 2014 May;29(6):812-8. doi: 10.1002/mds.25818. Epub 2014 Feb 5.

45.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J.

Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

46.

Cognitive impairment in rapid-onset dystonia-parkinsonism.

Cook JF, Hill DF, Snively BM, Boggs N, Suerken CK, Haq I, Stacy M, McCall WV, Ozelius LJ, Sweadner KJ, Brashear A.

Mov Disord. 2014 Mar;29(3):344-50. doi: 10.1002/mds.25790. Epub 2014 Jan 16.

47.

ATP1A3 mutations: what is the phenotype?

Brashear A, Ozelius LJ, Sweadner KJ.

Neurology. 2014 Feb 11;82(6):468-9. doi: 10.1212/WNL.0000000000000113. Epub 2014 Jan 15. No abstract available.

PMID:
24431297
48.

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

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.

Mov Disord. 2013 Dec;28(14):1966-71. doi: 10.1002/mds.25647. Epub 2013 Oct 15.

49.

Genetics in dystonia: an update.

Fuchs T, Ozelius LJ.

Curr Neurol Neurosci Rep. 2013 Dec;13(12):410. doi: 10.1007/s11910-013-0410-z. Review.

50.

The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia.

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.

Mov Disord. 2013 Nov;28(13):1766-74. doi: 10.1002/mds.25676. Epub 2013 Oct 9.

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