Harvard Catalyst Profiles

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

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Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. U01NS107016 (SAUNDERS-PULLMAN, RACHEL) May 1, 2019 - Mar 31, 2024
    NIH
    Dissecting Oligogenic Biomarkers in Ashkenazi Jews with Parkinson Disease
    Role: Co-Principal Investigator
  2. P01NS087997 (BREAKEFIELD, XANDRA OWENS) Jul 1, 2015 - Jun 30, 2021
    NIH
    Molecular etiology of early onset dystonia
    Role: Co-Principal Investigator
  3. R01NS081282 (EHRLICH, MICHELLE E) Jun 15, 2013 - Mar 31, 2019
    NIH
    Dopamine D1 Receptor in mouse models of primary dystonia
    Role: Co-Principal Investigator
  4. R21NS075881 (OZELIUS, LAURIE J.) Feb 15, 2012 - Jan 31, 2014
    NIH
    Gene discovery in primary dystonia using whole exome sequencing
    Role: Principal Investigator
  5. R21RR026123 (OZELIUS, LAURIE J.) Mar 1, 2010 - Feb 29, 2012
    NIH
    Creation of mouse models for DYT6 dystonia
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Lencz T, Yu J, Khan RR, Flaherty E, Carmi S, Lam M, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüs ZH, Vijai J, Klein RJ, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Malhotra AK, Maniatis T, Atzmon G, Pe'er I. Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia. Neuron. 2021 Mar 16. PMID: 33756103.
    Citations:    Fields:    
  2. Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord. 2021 Jan 27. PMID: 33502045.
    Citations: 1     Fields:    
  3. Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Aguil A, Ganza-Bautista NG, Lagarde JBB, Soria J, Jamora RDG, Acuña PJ, Vanderburg C, Sapp E, DiFiglia M, Murcar MG, Campion L, Ozelius LJ, Alessi AK, Singh-Bains MK, Waldvogel HJ, Faull RLM, Macalintal-Canlas R, Muñoz EL, Penney EB, Ang MA, Diesta CCE, Bragg DC, Acuña-Sunshine G. Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism. J Neural Transm (Vienna). 2021 Jan 13. PMID: 33439365.
    Citations:    Fields:    
  4. Petrozziello T, Dios AM, Mueller KA, Vaine CA, Hendriks WT, Glajch KE, Mills AN, Mangkalaphiban K, Penney EB, Ito N, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña G, Sharma N, Ozelius LJ, Bragg DC, Sadri-Vakili G. SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene. PLoS One. 2020; 15(12):e0243655. PMID: 33315879.
    Citations:    Fields:    Translation:HumansCells
  5. Khosravani S, Chen G, Ozelius LJ, Simonyan K. Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation. Neurobiol Dis. 2021 01; 148:105223. PMID: 33316367.
    Citations:    Fields:    
  6. Domingo A, Yadav R, Ozelius LJ. Isolated dystonia: clinical and genetic updates. J Neural Transm (Vienna). 2020 Nov 27. PMID: 33247415.
    Citations: 2     Fields:    
  7. Supnet ML, Acuna P, Carr SJ, Kristoper de Guzman J, Al Qahtani X, Multhaupt-Buell T, Francoeur T, Aldykiewicz GE, Alluri PR, Campion L, Paul L, Ozelius L, Penney EB, Stephen CD, Dy-Hollins M, Sharma N. Isolated Cervical Dystonia: Management and Barriers to Care. Front Neurol. 2020; 11:591418. PMID: 33329340.
    Citations:    
  8. Arystarkhova E, Ozelius LJ, Brashear A, Sweadner KJ. Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations. J Biol Chem. 2020 Nov 22; 296:100019. PMID: 33454454.
    Citations:    Fields:    
  9. Arystarkhova E, Ozelius LJ, Brashear A, Sweadner KJ. Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations. J Biol Chem. 2020 Nov 03. PMID: 33144327.
    Citations:    Fields:    
  10. Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fecíková A, Havránková P, Roth J, Príhodová I, Adamovicová M, Ulmanová O, Bechyne K, Danhofer P, Veselý B, Han V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Ružicka E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. PMID: 33098801.
    Citations: 3     Fields:    Translation:Humans
  11. Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO. TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. Mov Disord. 2021 01; 36(1):206-215. PMID: 32975318.
    Citations:    Fields:    
  12. Pauly MG, Ruiz López M, Westenberger A, Saranza G, Brüggemann N, Weissbach A, Rosales RL, Diesta CC, Jamora RDG, Reyes CJ, Madoev H, Petkovic S, Ozelius LJ, Klein C, Domingo A. Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example. Mov Disord. 2020 11; 35(11):1933-1938. PMID: 32949450.
    Citations: 1     Fields:    
  13. Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE. DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. Neurology. 2021 04 06; 96(14):e1887-e1897. PMID: 32943487.
    Citations:    Fields:    
  14. Petrozziello T, Mills AN, Vaine CA, Penney EB, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña-Sunshine G, Ozelius LJ, Sharma N, Bragg DC, Sadri-Vakili G. Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex. Neurobiol Dis. 2020 10; 144:105032. PMID: 32739252.
    Citations: 1     Fields:    
  15. Tsuboi T, Cif L, Coubes P, Ostrem JL, Romero DA, Miyagi Y, Lozano AM, De Vloo P, Haq I, Meng F, Sharma N, Ozelius LJ, Wagle Shukla A, Cauraugh JH, Foote KD, Okun MS. Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort. Front Hum Neurosci. 2020; 14:242. PMID: 32670041.
    Citations: 1     
  16. Cruz L, György B, Cheah PS, Kleinstiver BP, Eimer WA, Garcia SP, Sharma N, Ozelius LJ, Bragg DC, Joung JK, Norberto de Souza O, Macedo Timmers LFS, Breakefield XO. Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function. Mol Ther Nucleic Acids. 2020 Sep 04; 21:1-12. PMID: 32502938.
    Citations: 1     
  17. Namnah M, Bauer M, Mor-Shaked H, Bressman SB, Raymond D, Ozelius LJ, Arkadir D. Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation. Mov Disord Clin Pract. 2020 Jul; 7(5):569-570. PMID: 32626807.
    Citations:    
  18. Lungu C, Ozelius L, Standaert D, Hallett M, Sieber BA, Swanson-Fisher C, Berman BD, Calakos N, Moore JC, Perlmutter JS, Pirio Richardson SE, Saunders-Pullman R, Scheinfeldt L, Sharma N, Sillitoe R, Simonyan K, Starr PA, Taylor A, Vitek J. Defining research priorities in dystonia. Neurology. 2020 03 24; 94(12):526-537. PMID: 32098856.
    Citations: 3     Fields:    Translation:HumansAnimals
  19. LaHue SC, Albers K, Goldman S, Lo RY, Gu Z, Leimpeter A, Fross R, Comyns K, Marras C, de Kleijn A, Smit R, Katz M, Ozelius LJ, Bressman S, Saunders-Pullman R, Comella C, Klingman J, Nelson LM, Van Den Eeden SK, Tanner CM. Cervical dystonia incidence and diagnostic delay in a multiethnic population. Mov Disord. 2020 03; 35(3):450-456. PMID: 31774238.
    Citations: 1     Fields:    
  20. Arystarkhova E, Haq IU, Luebbert T, Mochel F, Saunders-Pullman R, Bressman SB, Feschenko P, Salazar C, Cook JF, Demarest S, Brashear A, Ozelius LJ, Sweadner KJ. Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. Neurobiol Dis. 2019 12; 132:104577. PMID: 31425744.
    Citations: 6     Fields:    Translation:HumansCells
  21. Bragg DC, Sharma N, Ozelius LJ. X-Linked Dystonia-Parkinsonism: recent advances. Curr Opin Neurol. 2019 08; 32(4):604-609. PMID: 31116117.
    Citations: 4     Fields:    Translation:HumansCells
  22. Haq IU, Snively BM, Sweadner KJ, Suerken CK, Cook JF, Ozelius LJ, Miller C, McCall WV, Whitlow CT, Brashear A. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. Mov Disord. 2019 10; 34(10):1528-1536. PMID: 31361359.
    Citations: 5     Fields:    Translation:Humans
  23. Tan AH, Ong TL, Ramli N, Tan LK, Lim JL, Azhan MA, Ahmad-Annuar A, Ibrahim KA, Abdul-Aziz Z, Ozelius LJ, Brashear A, Lim SY. Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities. J Mov Disord. 2019 May; 12(2):132-134. PMID: 31158946.
    Citations: 1     
  24. Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. Ann Neurol. 2019 06; 85(6):812-822. PMID: 30973967.
    Citations: 11     Fields:    Translation:HumansCells
  25. Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ. Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3. Neurol Genet. 2019 Feb; 5(1):e303. PMID: 30842972.
    Citations: 3     
  26. Sarva H, Trosch R, Kiss ZHT, Furtado S, Luciano MS, Glickman A, Raymond D, Ozelius LJ, Bressman SB, Saunders-Pullman R. Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. Mov Disord. 2019 02; 34(2):301-303. PMID: 30536916.
    Citations: 4     Fields:    Translation:Humans
  27. Masuho I, Chavali S, Muntean BS, Skamangas NK, Simonyan K, Patil DN, Kramer GM, Ozelius L, Babu MM, Martemyanov KA. Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling. Cell Rep. 2018 07 17; 24(3):557-568.e5. PMID: 30021154.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  28. Lencz T, Yu J, Palmer C, Carmi S, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüs ZH, Joseph V, Klein R, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Atzmon G, Pe'er I. High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation. Hum Genet. 2018 Apr; 137(4):343-355. PMID: 29705978.
    Citations: 9     Fields:    Translation:Humans
  29. Mirelman A, Saunders-Pullman R, Alcalay RN, Shustak S, Thaler A, Gurevich T, Raymond D, Mejia-Santana H, Orbe Reilly M, Ozelius L, Clark L, Gana-Weisz M, Bar-Shira A, Orr-Utreger A, Bressman SB, Marder K, Giladi N. Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers. Mov Disord. 2018 Jul; 33(6):966-973. PMID: 29603409.
    Citations: 8     Fields:    Translation:Humans
  30. 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 03 01; 75(3):312-319. PMID: 29309488.
    Citations: 24     Fields:    Translation:Humans
  31. Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 02 22; 172(5):897-909.e21. PMID: 29474918.
    Citations: 34     Fields:    Translation:HumansCells
  32. Zakirova Z, Fanutza T, Bonet J, Readhead B, Zhang W, Yi Z, Beauvais G, Zwaka TP, Ozelius LJ, Blitzer RD, Gonzalez-Alegre P, Ehrlich ME. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. PLoS Genet. 2018 01; 14(1):e1007169. PMID: 29364887.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  33. Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Sci Transl Med. 2018 01 10; 10(423). PMID: 29321258.
    Citations: 61     Fields:    Translation:HumansCells
  34. Putzel GG, Battistella G, Rumbach AF, Ozelius LJ, Sabuncu MR, Simonyan K. Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity. Cereb Cortex. 2018 01 01; 28(1):158-166. PMID: 29117296.
    Citations: 6     Fields:    Translation:Humans
  35. Bragg DC, Mangkalaphiban K, Vaine CA, Kulkarni NJ, Shin D, Yadav R, Dhakal J, Ton ML, Cheng A, Russo CT, Ang M, Acuña P, Go C, Franceour TN, Multhaupt-Buell T, Ito N, Müller U, Hendriks WT, Breakefield XO, Sharma N, Ozelius LJ. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proc Natl Acad Sci U S A. 2017 12 19; 114(51):E11020-E11028. PMID: 29229810.
    Citations: 17     Fields:    Translation:HumansCells
  36. Blitzer A, Brin MF, Simonyan K, Ozelius LJ, Frucht SJ. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. Laryngoscope. 2018 01; 128 Suppl 1:S1-S9. PMID: 29219190.
    Citations: 3     Fields:    Translation:Humans
  37. Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017 07 01; 74(7):806-812. PMID: 28558098.
    Citations: 1     Fields:    Translation:Humans
  38. Moran EE, Wang C, Katz M, Ozelius L, Schwartz A, Pavlovic J, Ortega RA, Lipton RB, Zimmerman ME, Saunders-Pullman R. Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers. Neurobiol Aging. 2017 10; 58:239.e1-239.e7. PMID: 28728889.
    Citations: 2     Fields:    Translation:Humans
  39. Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Screening study of TUBB4A in isolated dystonia. Parkinsonism Relat Disord. 2017 Aug; 41:118-120. PMID: 28655586.
    Citations: 1     Fields:    Translation:Humans
  40. Aguilo F, Zakirova Z, Nolan K, Wagner R, Sharma R, Hogan M, Wei C, Sun Y, Walsh MJ, Kelley K, Zhang W, Ozelius LJ, Gonzalez-Alegre P, Zwaka TP, Ehrlich ME. THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation. Stem Cell Reports. 2017 07 11; 9(1):92-107. PMID: 28579396.
    Citations: 5     Fields:    Translation:AnimalsCells
  41. Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K. Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. Neurol Genet. 2017 Apr; 3(2):e139. PMID: 28293679.
    Citations: 14     
  42. Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Phenotype- and genotype-specific structural alterations in spasmodic dysphonia. Mov Disord. 2017 04; 32(4):560-568. PMID: 28186656.
    Citations: 11     Fields:    Translation:Humans
  43. Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2a Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016 Dec 21; 92(6):1238-1251. PMID: 27939583.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  44. Swan M, Doan N, Ortega RA, Barrett M, Nichols W, Ozelius L, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R. Neuropsychiatric characteristics of GBA-associated Parkinson disease. J Neurol Sci. 2016 Nov 15; 370:63-69. PMID: 27772789.
    Citations: 14     Fields:    Translation:Humans
  45. Battistella G, Fuertinger S, Fleysher L, Ozelius LJ, Simonyan K. Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia. Eur J Neurol. 2016 10; 23(10):1517-27. PMID: 27346568.
    Citations: 22     Fields:    Translation:Humans
  46. de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N. Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. Otolaryngol Head Neck Surg. 2016 10; 155(4):624-8. PMID: 27188707.
    Citations: 2     Fields:    Translation:Humans
  47. Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A. ATP1A3 Mutation in Adult Rapid-Onset Ataxia. PLoS One. 2016; 11(3):e0151429. PMID: 26990090.
    Citations: 14     Fields:    Translation:Humans
  48. Sundermann EE, Wang C, Katz M, Zimmerman ME, Derby CA, Hall CB, Ozelius LJ, Lipton RB. Cholesteryl ester transfer protein genotype modifies the effect of apolipoprotein e4 on memory decline in older adults. Neurobiol Aging. 2016 May; 41:200.e7-200.e12. PMID: 27033407.
    Citations: 1     Fields:    Translation:Humans
  49. 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.
    Citations: 7     Fields:    Translation:Humans
  50. 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.
    Citations: 7     Fields:    Translation:Animals
  51. 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.
    Citations: 15     Fields:    Translation:Humans
  52. 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.
    Citations: 11     Fields:    Translation:Animals
  53. 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.
    Citations: 10     Fields:    Translation:Humans
  54. Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe'er I, Ostrer H, Oddoux C. Expanded genetic screening panel for the Ashkenazi Jewish population. Genet Med. 2016 05; 18(5):522-8. PMID: 26334176.
    Citations: 5     Fields:    Translation:Humans
  55. 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.
    Citations: 40     Fields:    Translation:Humans
  56. 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.
    Citations: 16     Fields:    Translation:Humans
  57. 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.
    Citations: 3     Fields:    Translation:Humans
  58. 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.
    Citations: 33     Fields:    
  59. 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.
    Citations: 32     Fields:    Translation:HumansCells
  60. Tan AH, Ozelius LJ, Brashear A, Lang AE, Ahmad-Annuar A, Tan CT, Lim SY. Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation. Mov Disord Clin Pract. 2015 Mar; 2(1):74-75. PMID: 30713883.
    Citations:    
  61. 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.
    Citations: 14     Fields:    Translation:Humans
  62. 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.
    Citations: 11     Fields:    
  63. 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.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  64. 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.
    Citations: 60     Fields:    Translation:Humans
  65. 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.
    Citations: 9     Fields:    Translation:Humans
  66. Barrett MJ, Shanker VL, Severt WL, Raymond D, Gross SJ, Schreiber-Agus N, Kornreich R, Ozelius LJ, Bressman SB, Saunders-Pullman R. Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Rep. 2014; 16:31-8. PMID: 24850235.
    Citations: 6     
  67. 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.
    Citations: 19     Fields:    Translation:Humans
  68. 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.
    Citations: 19     Fields:    Translation:Humans
  69. 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.
    Citations: 73     Fields:    Translation:HumansAnimals
  70. 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.
    Citations: 11     Fields:    Translation:Humans
  71. 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.
    Citations: 17     Fields:    Translation:HumansCTClinical Trials
  72. Brashear A, Ozelius LJ, Sweadner KJ. ATP1A3 mutations: what is the phenotype? Neurology. 2014 Feb 11; 82(6):468-9. PMID: 24431297.
    Citations: 4     Fields:    Translation:Humans
  73. Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. Pediatr Neurol. 2014 Apr; 50(4):377-9. PMID: 24491413.
    Citations: 4     Fields:    Translation:Humans
  74. Fuchs T, Ozelius LJ. Genetics in dystonia: an update. Curr Neurol Neurosci Rep. 2013 Dec; 13(12):410. PMID: 24136457.
    Citations: 2     Fields:    Translation:Humans
  75. 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.
    Citations: 49     Fields:    Translation:Humans
  76. Hutchinson M, Kimmich O, Molloy A, Whelan R, Molloy F, Lynch T, Healy DG, Walsh C, Edwards MJ, Ozelius L, Reilly RB, O'Riordan S. The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia. Mov Disord. 2013 Nov; 28(13):1766-74. PMID: 24108447.
    Citations: 18     Fields:    Translation:Humans
  77. Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol. 2013 Apr; 73(4):537-45. PMID: 23595291.
    Citations: 36     Fields:    Translation:HumansCells
  78. 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.
    Citations: 51     Fields:    Translation:Humans
  79. 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.
    Citations: 26     Fields:    Translation:Humans
  80. 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.
    Citations: 90     Fields:    Translation:HumansCells
  81. 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.
    Citations: 8     Fields:    Translation:Humans
  82. 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.
    Citations:    
  83. 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.
    Citations: 21     Fields:    Translation:Humans
  84. 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.
    Citations: 29     Fields:    Translation:Humans
  85. Ozelius LJ. Clinical spectrum of disease associated with ATP1A3 mutations. Lancet Neurol. 2012 Sep; 11(9):741-3. PMID: 22857851.
    Citations: 14     Fields:    Translation:Humans
  86. 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.
    Citations: 9     Fields:    Translation:Humans
  87. 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.
    Citations: 70     Fields:    Translation:HumansCells
  88. 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.
    Citations: 33     Fields:    Translation:Humans
  89. Fuchs T, Ozelius LJ. Genetics of dystonia. Semin Neurol. 2011 Nov; 31(5):441-8. PMID: 22266882.
    Citations: 7     Fields:    Translation:Humans