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Items: 1 to 50 of 141

1.

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

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.

Neurobiol Dis. 2019 Aug 16:104577. doi: 10.1016/j.nbd.2019.104577. [Epub ahead of print]

PMID:
31425744
2.

Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.

Sarva H, Trosch R, Kiss ZHT, Furtado S, Luciano MS, Glickman A, Raymond D, Ozelius LJ, Bressman SB, Saunders-Pullman R.

Mov Disord. 2019 Feb;34(2):301-303. doi: 10.1002/mds.27585. Epub 2018 Dec 10. No abstract available.

3.

Evidence for increased completed suicide in first-degree relatives of LRRK2 G2019S mutation Parkinson's disease.

Ortega RA, Groves M, Mirelman A, Alcalay RN, Raymond D, Elango S, Mejia-Santana H, Giladi N, Marder K, Bressman SB, Saunders-Pullman R.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):843-844. doi: 10.1136/jnnp-2018-319364. Epub 2018 Nov 8. No abstract available.

PMID:
30409888
4.

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

Mirelman A, Saunders-Pullman R, Alcalay RN, Shustak S, Thaler A, Gurevich T, Raymond D, Mejia-Santana H, Orbe Reilly M, Ozelius L, Clark L, Gana-Weisz M, Bar-Shira A, Orr-Utreger A, Bressman SB, Marder K, Giladi N; AJ LRRK2 Consortium.

Mov Disord. 2018 Jul;33(6):966-973. doi: 10.1002/mds.27342. Epub 2018 Mar 30.

5.

Progression in the LRRK2-Asssociated Parkinson Disease Population.

Saunders-Pullman R, Mirelman A, Alcalay RN, Wang C, Ortega RA, Raymond D, Mejia-Santana H, Orbe-Reilly M, Johannes BA, Thaler A, Ozelius L, Orr-Urtreger A, Marder KS, Giladi N, Bressman SB; LRRK2 Ashkenazi Jewish Consortium.

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

6.

Disruption of network for visual perception of natural motion in primary dystonia.

Fujita K, Sako W, Vo A, Bressman SB, Eidelberg D.

Hum Brain Mapp. 2018 Mar;39(3):1163-1174. doi: 10.1002/hbm.23907. Epub 2017 Dec 6.

7.

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

Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C.

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

8.

Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson's Disease.

San Luciano M, Wang C, Ortega RA, Yu Q, Boschung S, Soto-Valencia J, Bressman SB, Lipton RB, Pullman S, Saunders-Pullman R.

PLoS One. 2016 Oct 12;11(10):e0162799. doi: 10.1371/journal.pone.0162799. eCollection 2016.

9.

Diagnosis and Management of Dystonia.

Shanker V, Bressman SB.

Continuum (Minneap Minn). 2016 Aug;22(4 Movement Disorders):1227-45. doi: 10.1212/CON.0000000000000352. Review.

PMID:
27495206
10.

Arm swing as a potential new prodromal marker of Parkinson's disease.

Mirelman A, Bernad-Elazari H, Thaler A, Giladi-Yacobi E, Gurevich T, Gana-Weisz M, Saunders-Pullman R, Raymond D, Doan N, Bressman SB, Marder KS, Alcalay RN, Rao AK, Berg D, Brockmann K, Aasly J, Waro BJ, Tolosa E, Vilas D, Pont-Sunyer C, Orr-Urtreger A, Hausdorff JM, Giladi N.

Mov Disord. 2016 Oct;31(10):1527-1534. doi: 10.1002/mds.26720.

11.

DYT1 dystonia increases risk taking in humans.

Arkadir D, Radulescu A, Raymond D, Lubarr N, Bressman SB, Mazzoni P, Niv Y.

Elife. 2016 Jun 1;5. pii: e14155. doi: 10.7554/eLife.14155.

12.

The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.

Sako W, Fujita K, Vo A, Rucker JC, Rizzo JR, Niethammer M, Carbon M, Bressman SB, Uluğ AM, Eidelberg D.

Brain. 2015 Dec;138(Pt 12):3598-609. doi: 10.1093/brain/awv282. Epub 2015 Sep 29.

13.

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Högl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N, Rouleau GA.

Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31.

14.

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

Saunders-Pullman R, Alcalay RN, Mirelman A, Wang C, Luciano MS, Ortega RA, Glickman A, Raymond D, Mejia-Santana H, Doan N, Johannes B, Yasinovsky K, Ozelius L, Clark L, Orr-Utreger A, Marder K, Giladi N, Bressman SB; AJ LRRK2 Consortium.

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

15.

Low-variance RNAs identify Parkinson's disease molecular signature in blood.

Chikina MD, Gerald CP, Li X, Ge Y, Pincas H, Nair VD, Wong AK, Krishnan A, Troyanskaya OG, Raymond D, Saunders-Pullman R, Bressman SB, Yue Z, Sealfon SC.

Mov Disord. 2015 May;30(6):813-21. doi: 10.1002/mds.26205. Epub 2015 Mar 18.

16.

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

Saunders-Pullman R, Mirelman A, Wang C, Alcalay RN, San Luciano M, Ortega R, Raymond D, Mejia-Santana H, Ozelius L, Clark L, Orr-Utreger A, Marder K, Giladi N, Bressman SB.

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

17.

Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.

Vo A, Sako W, Niethammer M, Carbon M, Bressman SB, Uluğ AM, Eidelberg D.

Cereb Cortex. 2015 Sep;25(9):3086-94. doi: 10.1093/cercor/bhu104. Epub 2014 May 23.

18.

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

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

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

19.

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

Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe'er I, Bressman SB, Orr-Urtreger A.

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

20.

Reply: dystonia after severe head injuries.

Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK.

Mov Disord. 2014 Apr;29(4):578-9. doi: 10.1002/mds.25861. Epub 2014 Mar 3. No abstract available.

PMID:
24590449
21.

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

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

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

22.

Cognitive and motor function in long-duration PARKIN-associated Parkinson disease.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella CL, Nance MA, Bressman SB, Scott WK, Tanner CM, Mickel SF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak KE, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Payami H, Molho E, Factor SA, Nutt JG, Serrano C, Arroyo M, Ottman R, Pauciulo MW, Nichols WC, Clark LN, Marder KS.

JAMA Neurol. 2014 Jan;71(1):62-7. doi: 10.1001/jamaneurol.2013.4498.

23.

Primary dystonia: moribund or viable.

Bressman SB, Saunders-Pullman R.

Mov Disord. 2013 Jun 15;28(7):906-13. doi: 10.1002/mds.25528. Review.

24.

Phenomenology and classification of dystonia: a consensus update.

Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK.

Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6. Review.

25.

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

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.

Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27.

26.

Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers.

Deik AF, O'Riordan S, Luciano MS, Shanker VL, Raymond D, Bressman SB, Saunders-Pullman R.

Tremor Other Hyperkinet Mov (N Y). 2012;2. pii: tre-02-90-671-1. doi: 10.7916/D8PR7TPC. Epub 2012 Sep 17.

27.

Mutations in GNAL cause primary torsion dystonia.

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.

Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9.

28.

Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.

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; LRRK2 Ashkenazi Jewish Consortium.

Parkinsonism Relat Disord. 2013 Feb;19(2):186-91. doi: 10.1016/j.parkreldis.2012.09.007. Epub 2012 Oct 10.

29.

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura K, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, Ozelius LJ, Bressman SB.

Neurology. 2012 Feb 28;78(9):649-57. doi: 10.1212/WNL.0b013e3182494d51. Epub 2012 Feb 15. Erratum in: Neurology. 2012 Mar 27;78(13):1029. Nakamura, T [corrected to Nakamura, K].

30.

Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease.

San Luciano M, Ozelius L, Lipton RB, Raymond D, Bressman SB, Saunders-Pullman R.

Neurosci Lett. 2012 Jan 11;506(2):312-6. doi: 10.1016/j.neulet.2011.11.032. Epub 2011 Dec 1.

31.

Functional electrical stimulation for the treatment of lower extremity dystonia.

Barrett MJ, Bressman SB, Levy OA, Fahn S, O'Dell MW.

Parkinsonism Relat Disord. 2012 Jun;18(5):660-1. doi: 10.1016/j.parkreldis.2011.09.017. Epub 2011 Oct 5. No abstract available.

32.

Pallidal deep brain stimulation for DYT6 dystonia.

Panov F, Tagliati M, Ozelius LJ, Fuchs T, Gologorsky Y, Cheung T, Avshalumov M, Bressman SB, Saunders-Pullman R, Weisz D, Alterman RL.

J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):182-7. doi: 10.1136/jnnp-2011-300979. Epub 2011 Sep 23.

PMID:
21949105
33.

Olfactory dysfunction in LRRK2 G2019S mutation carriers.

Saunders-Pullman R, Stanley K, Wang C, San Luciano M, Shanker V, Hunt A, Severt L, Raymond D, Ozelius LJ, Lipton RB, Bressman SB.

Neurology. 2011 Jul 26;77(4):319-24. doi: 10.1212/WNL.0b013e318227041c. Epub 2011 Jul 13.

34.

Diagnosis and referral delay in women with Parkinson's disease.

Saunders-Pullman R, Wang C, Stanley K, Bressman SB.

Gend Med. 2011 Jun;8(3):209-17. doi: 10.1016/j.genm.2011.05.002.

35.

Milestones in dystonia.

Ozelius LJ, Lubarr N, Bressman SB.

Mov Disord. 2011 May;26(6):1106-26. doi: 10.1002/mds.23775. Review.

PMID:
21626555
36.

Gender differences in the risk of familial parkinsonism: beyond LRRK2?

Saunders-Pullman R, Stanley K, San Luciano M, Barrett MJ, Shanker V, Raymond D, Ozelius LJ, Bressman SB.

Neurosci Lett. 2011 Jun 1;496(2):125-8. doi: 10.1016/j.neulet.2011.03.098. Epub 2011 Apr 12.

37.

Rapid-onset dystonia-parkinsonism.

Geyer HL, Bressman SB.

Handb Clin Neurol. 2011;100:559-62. doi: 10.1016/B978-0-444-52014-2.00040-9. Review.

PMID:
21496607
38.

Phenotypic spectrum of musician's dystonia: a task-specific disorder?

Schmidt A, Jabusch HC, Altenmüller E, Enders L, Saunders-Pullman R, Bressman SB, Münchau A, Klein C, Hagenah J.

Mov Disord. 2011 Feb 15;26(3):546-9. doi: 10.1002/mds.23526.

PMID:
21462264
39.

LRRK2 G2019S mutations may be increased in Puerto Ricans.

Saunders-Pullman R, Cabassa J, San Luciano M, Stanley K, Raymond D, Ozelius LJ, Bressman SB.

Mov Disord. 2011 Aug 1;26(9):1772-3. doi: 10.1002/mds.23632. Epub 2011 Mar 29. No abstract available.

40.

Genetic and clinical features of primary torsion dystonia.

Ozelius LJ, Bressman SB.

Neurobiol Dis. 2011 May;42(2):127-35. doi: 10.1016/j.nbd.2010.12.012. Epub 2010 Dec 17. Review.

41.

Pallidal deep brain stimulation for primary dystonia in children.

Haridas A, Tagliati M, Osborn I, Isaias I, Gologorsky Y, Bressman SB, Weisz D, Alterman RL.

Neurosurgery. 2011 Mar;68(3):738-43; discussion 743. doi: 10.1227/NEU.0b013e3182077396.

PMID:
21164379
42.

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Ross BM, Verbitsky M, Kisselev S, Louis ED, Comella C, Colcher A, Jennings D, Nance MA, Bressman SB, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Ottman R, Marder K, Clark LN.

Arch Neurol. 2010 Sep;67(9):1116-22. doi: 10.1001/archneurol.2010.194.

43.

LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease.

Saunders-Pullman R, Barrett MJ, Stanley KM, Luciano MS, Shanker V, Severt L, Hunt A, Raymond D, Ozelius LJ, Bressman SB.

Mov Disord. 2010 Nov 15;25(15):2536-41. doi: 10.1002/mds.23314.

44.

Clinical expression of LRRK2 G2019S mutations in the elderly.

San Luciano M, Lipton RB, Wang C, Katz M, Zimmerman ME, Sanders AE, Ozelius LJ, Bressman SB, Saunders-Pullman R.

Mov Disord. 2010 Nov 15;25(15):2571-6. doi: 10.1002/mds.23330.

45.

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Sharma N, Franco RA Jr, Kuster JK, Mitchell AA, Fuchs T, Saunders-Pullman R, Raymond D, Brin MF, Blitzer A, Bressman SB, Ozelius LJ.

Mov Disord. 2010 Oct 15;25(13):2183-7. doi: 10.1002/mds.23225.

46.

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study.

Saunders-Pullman R, Stanley K, Brüggemann N, Raymond D, San Luciano M, Wang C, Klein C, Lubarr N, Ozelius L, Bressman SB, Hagenah J.

Parkinsonism Relat Disord. 2010 Jul;16(6):420-2. doi: 10.1016/j.parkreldis.2010.03.003. Epub 2010 Apr 22. No abstract available.

47.

Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study.

Carbon M, Argyelan M, Habeck C, Ghilardi MF, Fitzpatrick T, Dhawan V, Pourfar M, Bressman SB, Eidelberg D.

Brain. 2010 Mar;133(Pt 3):690-700. doi: 10.1093/brain/awq017. Epub 2010 Mar 5.

48.

THAP1: role in focal dystonia?

Ozelius LJ, Bressman SB.

Neurology. 2010 Jan 19;74(3):192-3. doi: 10.1212/WNL.0b013e3181cbf069. No abstract available.

PMID:
20083795
49.

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.

Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K.

Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4.

PMID:
20053375
50.

Cerebellothalamocortical connectivity regulates penetrance in dystonia.

Argyelan M, Carbon M, Niethammer M, Ulug AM, Voss HU, Bressman SB, Dhawan V, Eidelberg D.

J Neurosci. 2009 Aug 5;29(31):9740-7. doi: 10.1523/JNEUROSCI.2300-09.2009.

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