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. Arystarkhova E, Toustrup-Jensen MS, Holm R, Ko JK, Lee KE, Feschenko P, Ozelius LJ, Brashear A, Vilsen B, Sweadner KJ. Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome. J Biol Chem. 2022 Dec 01; 299(1):102758. PMID: 36462665.
    Citations:    Fields:    
  2. Ortega RA, Bressman SB, Raymond D, Ozelius LJ, Katsnelson V, Leaver K, Swan MC, Shanker V, Miravite J, Wang C, Bennett SAL, Saunders-Pullman R. Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism. Mov Disord. 2022 11; 37(11):2217-2225. PMID: 36054306; PMCID: PMC9669136.
    Citations:    Fields:    Translation:Humans
  3. Saunders-Pullman R, Ortega RA, Wang C, Raymond D, Elango S, Leaver K, Urval N, Katsnelson V, Gerber R, Swan M, Shanker V, Alcalay RN, Mirelman A, Brumm MC, Mejia-Santana H, Coffey CS, Marek K, Ozelius LJ, Giladi N, Marder KS, Bressman SB. Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the LRRK2 G2019S Variant. Neurology. 2022 08 23; 99(8):e814-e823. PMID: 35995594; PMCID: PMC9484727.
    Citations:    Fields:    Translation:Humans
  4. Bally JF, Kern DS, Fearon C, Camargos S, Pereira da Silva-Junior F, Barbosa ER, Ozelius LJ, de Carvalho Aguiar P, Lang AE. DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review. Mov Disord Clin Pract. 2022 Jul; 9(5):659-675. PMID: 35844288; PMCID: PMC9274350.
    Citations:    
  5. Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. Acta Neuropathol Commun. 2022 Apr 25; 10(1):62. PMID: 35468867; PMCID: PMC9040229.
    Citations:    Fields:    
  6. Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. Acta Neuropathol Commun. 2022 04 08; 10(1):49. PMID: 35395816; PMCID: PMC8994295.
    Citations: 1     Fields:    Translation:HumansCells
  7. Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. Am J Hum Genet. 2021 11 04; 108(11):2145-2158. PMID: 34672987; PMCID: PMC8595948.
    Citations:    Fields:    Translation:HumansAnimalsCells
  8. Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobricic V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun. 2021 05 28; 12(1):3216. PMID: 34050153.
    Citations: 4     Fields:    Translation:HumansCells
  9. Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, Follett J, Farrer MJ, Trinh J, Gasser T, Goldwurm S, Gustavsson E, Klein C, Lang AE, Langston JW, Latourelle J, Lynch T, Marder K, Marras C, Martin ER, McLean CY, Mejia-Santana H, Molho E, Myers RH, Nuytemans K, Ozelius L, Payami H, Raymond D, Rogaeva E, Rogers MP, Ross OA, Samii A, Saunders-Pullman R, Schüle B, Schulte C, Scott WK, Tanner C, Tolosa E, Tomkins JE, Vilas D, Trojanowski JQ, Uitti R, Vance JM, Visanji NP, Wszolek ZK, Zabetian CP, Mirelman A, Giladi N, Orr Urtreger A, Cannon P, Fiske B, Foroud T. Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease. Ann Neurol. 2021 07; 90(1):76-88. PMID: 33938021.
    Citations: 5     Fields:    Translation:Humans
  10. Simonyan K, Barkmeier-Kraemer J, Blitzer A, Hallett M, Houde JF, Jacobson Kimberley T, Ozelius LJ, Pitman MJ, Richardson RM, Sharma N, Tanner K. Laryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities. Neurology. 2021 05 25; 96(21):989-1001. PMID: 33858994; PMCID: PMC8205448.
    Citations: 2     Fields:    Translation:Humans
  11. Shinoda K, Zong D, Callen E, Wu W, Dumitrache LC, Belinky F, Chari R, Wong N, Ishikawa M, Stanlie A, Multhaupt-Buell T, Sharma N, Ozelius L, Ehrlich M, McKinnon PJ, Nussenzweig A. The dystonia gene THAP1 controls DNA double-strand break repair choice. Mol Cell. 2021 06 17; 81(12):2611-2624.e10. PMID: 33857404; PMCID: PMC8985095.
    Citations: 4     Fields:    Translation:AnimalsCells
  12. Ortega RA, Wang C, Raymond D, Bryant N, Scherzer CR, Thaler A, Alcalay RN, West AB, Mirelman A, Kuras Y, Marder KS, Giladi N, Ozelius LJ, Bressman SB, Saunders-Pullman R. Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression. JAMA Netw Open. 2021 04 01; 4(4):e215845. PMID: 33881531.
    Citations: 9     Fields:    Translation:Humans
  13. 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 05 05; 109(9):1465-1478.e4. PMID: 33756103; PMCID: PMC8177045.
    Citations: 4     Fields:    Translation:Humans
  14. Hoshino K, Sweadner KJ, Kawarai T, Saute JA, Freitas J, Damásio J, Donis KC, Kimura K, Fukuda H, Hayashi M, Higuchi T, Ikeda Y, Ozelius LJ, Kaji R. Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations. Neurol Genet. 2021 Apr; 7(2):e562. PMID: 33977143; PMCID: PMC8105889.
    Citations:    
  15. 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 05; 36(5):1086-1103. PMID: 33502045.
    Citations: 9     Fields:    Translation:Humans
  16. 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 04; 128(4):575-587. PMID: 33439365.
    Citations: 3     Fields:    Translation:Humans
  17. 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: 3     Fields:    Translation:HumansCells
  18. 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:    Translation:Humans
  19. Domingo A, Yadav R, Ozelius LJ. Isolated dystonia: clinical and genetic updates. J Neural Transm (Vienna). 2021 04; 128(4):405-416. PMID: 33247415.
    Citations: 6     Fields:    Translation:Humans
  20. 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: 1     
  21. 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. 2021 Jan-Jun; 296:100019. PMID: 33144327.
    Citations: 5     Fields:    Translation:HumansCells
  22. 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:    
  23. 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: 24     Fields:    Translation:Humans
  24. 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; PMCID: PMC7891430.
    Citations: 4     Fields:    Translation:HumansCells
  25. 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: 10     Fields:    Translation:Humans
  26. 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: 2     Fields:    Translation:Humans
  27. 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: 7     Fields:    Translation:HumansCells
  28. 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; PMCID: PMC7330126.
    Citations: 3     
  29. 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: 3     
  30. 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:    
  31. 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; PMCID: PMC7274927.
    Citations: 8     Fields:    Translation:HumansAnimals
  32. 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: 4     Fields:    Translation:Humans
  33. 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: 14     Fields:    Translation:HumansCells
  34. Bragg DC, Sharma N, Ozelius LJ. X-Linked Dystonia-Parkinsonism: recent advances. Curr Opin Neurol. 2019 08; 32(4):604-609. PMID: 31116117; PMCID: PMC7243267.
    Citations: 7     Fields:    Translation:HumansCells
  35. 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; PMCID: PMC6879786.
    Citations: 9     Fields:    Translation:Humans
  36. 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     
  37. 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: 25     Fields:    Translation:HumansCells
  38. 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; PMCID: PMC6384024.
    Citations: 13     
  39. 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; PMCID: PMC6659994.
    Citations: 4     Fields:    Translation:Humans
  40. 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; PMCID: PMC6077248.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  41. 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; PMCID: PMC6954822.
    Citations: 13     Fields:    Translation:Humans
  42. 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; PMCID: PMC6105406.
    Citations: 17     Fields:    Translation:Humans
  43. 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; PMCID: PMC5885854.
    Citations: 42     Fields:    Translation:Humans
  44. 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; PMCID: PMC5831509.
    Citations: 65     Fields:    Translation:HumansCells
  45. 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; PMCID: PMC5798844.
    Citations: 26     Fields:    Translation:HumansAnimalsCells
  46. 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; PMCID: PMC6028002.
    Citations: 116     Fields:    Translation:HumansCells
  47. 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; PMCID: PMC6059246.
    Citations: 14     Fields:    Translation:Humans
  48. 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; PMCID: PMC5754783.
    Citations: 46     Fields:    Translation:HumansCells
  49. 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: 11     Fields:    Translation:Humans
  50. 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; PMCID: PMC5710536.
    Citations: 1     Fields:    Translation:Humans
  51. 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; PMCID: PMC5647652.
    Citations: 2     Fields:    Translation:Humans
  52. 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; PMCID: PMC5769152.
    Citations: 3     Fields:    Translation:Humans
  53. 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: 13     Fields:    Translation:AnimalsCells
  54. 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; PMCID: PMC5335249.
    Citations: 19     
  55. 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; PMCID: PMC5578762.
    Citations: 16     Fields:    Translation:Humans
  56. 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: 28     Fields:    Translation:HumansAnimalsCells
  57. 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; PMCID: PMC5268078.
    Citations: 21     Fields:    Translation:Humans
  58. 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; PMCID: PMC5308055.
    Citations: 32     Fields:    Translation:Humans
  59. de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song