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Ozelius, Laurie
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Laurie Ozelius, Ph.D., Sc.D.
Title
Associate Professor of Neurology
Institution
Massachusetts General Hospital
Department
Neurology
Address
16th Street
Blding 114
Rm32000
Charlestown MA 02129
Phone
617/724-2346
Fax
617/726-5736
vCard
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research activities and funding
|
selected publications
|
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.
Most Recent
|
List All
U01NS107016
(SAUNDERS-PULLMAN, RACHEL)
May 1, 2019 - Mar 31, 2024
NIH
Dissecting Oligogenic Biomarkers in Ashkenazi Jews with Parkinson Disease
Role: Co-Principal Investigator
P01NS087997
(BREAKEFIELD, XANDRA OWENS)
Jul 1, 2015 - Jun 30, 2021
NIH
Molecular etiology of early onset dystonia
Role: Co-Principal Investigator
R01NS081282
(EHRLICH, MICHELLE E)
Jun 15, 2013 - Mar 31, 2019
NIH
Dopamine D1 Receptor in mouse models of primary dystonia
Role: Co-Principal Investigator
R21NS075881
(OZELIUS, LAURIE J.)
Feb 15, 2012 - Jan 31, 2014
NIH
Gene discovery in primary dystonia using whole exome sequencing
Role: Principal Investigator
R21RR026123
(OZELIUS, LAURIE J.)
Mar 1, 2010 - Feb 29, 2012
NIH
Creation of mouse models for DYT6 dystonia
Role: Principal Investigator
P01NS044233
(LOW, PHILLIP A)
Jul 1, 2002 - Jul 31, 2015
NIH/NINDS
Pathogenesis and Diagnosis of Multiple System Atrophy (P01)
Role: Co-Principal Investigator
P50NS037409
(BREAKEFIELD, XANDRA OWENS)
Jan 1, 2000 - Mar 31, 2015
NIH
Molecular etiology of early onset torsion dystonia
Role: Co-Principal Investigator
P01NS037409
(BREAKEFIELD, XANDRA OWENS)
Jan 15, 1999 - May 31, 2009
NIH
Molecular Etiology of Early Onset Torsion Dystonia
Role: Co-Principal Investigator
R01NS038142
(OZELIUS, LAURIE J.)
Apr 30, 1998 - Jan 31, 2002
NIH
TORSIN GENE FAMILY AND DYSTONIA AND MODIFYING GENES
Role: Principal Investigator
P01-01A1
(SETTE, ALESSANDRO D.)
NIH
T Cell Responses Following DENV Natural Infections and Live-Attenuated Dengue Virus Vaccination
Role: Co-Principal Investigator
Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can
login
to make corrections and additions.
Newest
|
Oldest
|
Most Cited
|
Most Discussed
|
Timeline
|
Field Summary
|
Plain Text
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.
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:
Bio
Biochemistry
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
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:
Neu
Neurology
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:
Neu
Neurology
Translation:
Humans
Cells
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:
Gen
Genetics
Translation:
Humans
Animals
Cells
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:
Bio
Biology
Sci
Science
Translation:
Humans
Cells
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Animals
Cells
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:
Med
Medicine (General)
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Phy
Physiology
Translation:
Humans
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:
Med
Medicine (General)
Sci
Science
Translation:
Humans
Cells
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Phy
Physiology
Translation:
Humans
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
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:
Bio
Biochemistry
Translation:
Humans
Cells
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:
Bio
Biochemistry
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
Cells
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
Cells
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
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
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:
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:
Neu
Neurology
Translation:
Humans
Animals
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
Cells
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:
Neu
Neurology
Translation:
Humans
Cells
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:
Neu
Neurology
Translation:
Humans
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
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:
Neu
Neurology
Translation:
Humans
Cells
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
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:
Neu
Neurology
Translation:
Humans
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:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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:
Gen
Genetics
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
Cel
Cell Biology
Translation:
Humans
Cells
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:
Gen
Genetics
Translation:
Humans
Animals
Cells
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:
Med
Medicine (General)
Sci
Science
Translation:
Humans
Cells
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:
Bra
Brain
Translation:
Humans
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:
Sci
Science
Translation:
Humans
Cells
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:
Oto
Otolaryngology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
Ger
Geriatrics
Neu
Neurology
Phy
Physiology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
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:
Cel
Cell Biology
Translation:
Animals
Cells
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
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
Animals
Cells
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:
Neu
Neurology
Translation:
Humans
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:
Neu
Neurology
Translation:
Humans
de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T,
Song