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Items: 1 to 50 of 271

1.

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.

Book A, Guella I, Candido T, Brice A, Hattori N, Jeon B, Farrer MJ; SNCA Multiplication Investigators of the GEoPD Consortium.

Front Neurol. 2018 Dec 11;9:1021. doi: 10.3389/fneur.2018.01021. eCollection 2018.

2.

Single Inflammatory Trigger Leads to Neuroinflammation in LRRK2 Rodent Model without Degeneration of Dopaminergic Neurons.

Schildt A, Walker MD, Dinelle K, Miao Q, Schulzer M, O'Kusky J, Farrer MJ, Doudet DJ, Sossi V.

J Parkinsons Dis. 2019;9(1):121-139. doi: 10.3233/JPD-181446.

PMID:
30452424
3.

Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice.

Cataldi S, Follett J, Fox JD, Tatarnikov I, Kadgien C, Gustavsson EK, Khinda J, Milnerwood AJ, Farrer MJ.

NPJ Parkinsons Dis. 2018 Aug 21;4:27. doi: 10.1038/s41531-018-0063-3. eCollection 2018.

4.

A Case of Parkinson's Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin.

Johansen KK, Torp SH, Farrer MJ, Gustavsson EK, Aasly JO.

Case Rep Neurol Med. 2018 Jun 28;2018:6838965. doi: 10.1155/2018/6838965. eCollection 2018.

5.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM.

J Genet Couns. 2018 Jul 23. doi: 10.1007/s10897-018-0281-1. [Epub ahead of print]

PMID:
30033481
6.

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease.

Hou X, Fiesel FC, Truban D, Castanedes Casey M, Lin WL, Soto AI, Tacik P, Rousseau LG, Diehl NN, Heckman MG, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Steele JC, Farrer MJ, Cornejo-Olivas M, Torres L, Mata IF, Graff-Radford NR, Wszolek ZK, Ross OA, Murray ME, Dickson DW, Springer W.

Autophagy. 2018;14(8):1404-1418. doi: 10.1080/15548627.2018.1461294. Epub 2018 Jul 28.

PMID:
29947276
7.

Whole Exome Sequencing of an Exceptional Longevity Cohort.

Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer MJ, Vilariño-Güell C, Strittmatter SM.

J Gerontol A Biol Sci Med Sci. 2018 May 10. doi: 10.1093/gerona/gly098. [Epub ahead of print]

PMID:
29750252
8.

Neurobehavioral characterization of adult-onset Alexander disease: A family study.

Lichtenstein ML, Dwosh E, Roy Chowdhury A, Farrer MJ, McKenzie MB, Guella I, Evans DM, Nygaard HB, Shewchuk JR, Hayden S, Barton JJS, Feldman HH.

Neurol Clin Pract. 2017 Oct;7(5):425-429. doi: 10.1212/CPJ.0000000000000356. No abstract available.

9.

Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project.

Bentley SR, Bortnick S, Guella I, Fowdar JY, Silburn PA, Wood SA, Farrer MJ, Mellick GD.

Parkinsonism Relat Disord. 2018 Apr;49:34-41. doi: 10.1016/j.parkreldis.2017.12.033. Epub 2018 Jan 3.

PMID:
29329938
10.

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Appel-Cresswell S, Guella I, Lehman A, Foti D, Farrer MJ.

J Mov Disord. 2018 Jan;11(1):45-48. doi: 10.14802/jmd.17066. Epub 2018 Jan 11.

11.

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Gao Y, Wilson GR, Stephenson SEM, Bozaoglu K, Farrer MJ, Lockhart PJ.

Mov Disord. 2018 Feb;33(2):196-207. doi: 10.1002/mds.27270. Epub 2018 Jan 9. Review.

PMID:
29315801
12.

Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson's disease.

Kusters CDJ, Paul KC, Guella I, Bronstein JM, Sinsheimer JS, Farrer MJ, Ritz BR.

Parkinsonism Relat Disord. 2018 Feb;47:39-44. doi: 10.1016/j.parkreldis.2017.11.339. Epub 2017 Nov 24.

13.

Establishing diagnostic criteria for Perry syndrome.

Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):482-487. doi: 10.1136/jnnp-2017-316864. Epub 2017 Oct 31.

14.

Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior, in LRRK2 G2019S knock-in mice.

Volta M, Beccano-Kelly DA, Paschall SA, Cataldi S, MacIsaac SE, Kuhlmann N, Kadgien CA, Tatarnikov I, Fox J, Khinda J, Mitchell E, Bergeron S, Melrose H, Farrer MJ, Milnerwood AJ.

Elife. 2017 Sep 20;6. pii: e28377. doi: 10.7554/eLife.28377.

15.

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S.

Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11.

PMID:
28892570
16.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.

Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.

PMID:
28811059
17.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study, Suri M, Elmslie F; Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.

Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.

18.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.

Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.

19.

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease.

Yoshino H, Hirano M, Stoessl AJ, Imamichi Y, Ikeda A, Li Y, Funayama M, Yamada I, Nakamura Y, Sossi V, Farrer MJ, Nishioka K, Hattori N.

Neurobiol Aging. 2017 Sep;57:248.e7-248.e12. doi: 10.1016/j.neurobiolaging.2017.05.022. Epub 2017 Jun 27.

PMID:
28666710
20.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Gustavsson EK, Trinh J, McKenzie M, Bortnick S, Petersen MS, Farrer MJ, Aasly JO.

Mov Disord Clin Pract. 2017 May 23;4(4):499-508. doi: 10.1002/mdc3.12501. eCollection 2017 Jul-Aug.

21.

SCA2 family presenting as typical Parkinson's disease: 34 year follow up.

Kim YE, Jeon B, Farrer MJ, Scott E, Guella I, Park SS, Kim JM, Park HY, Kim A, Son YD, Cho ZH.

Parkinsonism Relat Disord. 2017 Jul;40:69-72. doi: 10.1016/j.parkreldis.2017.04.003. Epub 2017 Apr 12.

PMID:
28462804
22.

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W.

Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. No abstract available.

23.

Gender differences in Parkinson's disease depression.

Perrin AJ, Nosova E, Co K, Book A, Iu O, Silva V, Thompson C, McKeown MJ, Stoessl AJ, Farrer MJ, Appel-Cresswell S.

Parkinsonism Relat Disord. 2017 Mar;36:93-97. doi: 10.1016/j.parkreldis.2016.12.026. Epub 2016 Dec 29.

PMID:
28089265
24.

Leucine-rich repeat kinase 2 (LRRK2) regulates α-synuclein clearance in microglia.

Maekawa T, Sasaoka T, Azuma S, Ichikawa T, Melrose HL, Farrer MJ, Obata F.

BMC Neurosci. 2016 Nov 30;17(1):77.

25.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.

26.

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.

Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G, Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD, Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Krüger R, Farrer MJ, Ross OA, Sharma M; GEOPD Consortium.

Neurobiol Aging. 2017 Jan;49:217.e1-217.e4. doi: 10.1016/j.neurobiolaging.2016.09.022. Epub 2016 Oct 6.

27.

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W.

Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2.

28.

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.

Trinh J, Gustavsson EK, Vilariño-Güell C, Bortnick S, Latourelle J, McKenzie MB, Tu CS, Nosova E, Khinda J, Milnerwood A, Lesage S, Brice A, Tazir M, Aasly JO, Parkkinen L, Haytural H, Foroud T, Myers RH, Sassi SB, Hentati E, Nabli F, Farhat E, Amouri R, Hentati F, Farrer MJ.

Lancet Neurol. 2016 Nov;15(12):1248-1256. doi: 10.1016/S1474-4422(16)30203-4. Epub 2016 Sep 28.

PMID:
27692902
29.

Conjugal parkinsonism is coincidental.

Rajput AH, Ferguson LW, Robinson CA, Guella I, Farrer MJ, Rajput A.

Parkinsonism Relat Disord. 2016 Dec;33:149-150. doi: 10.1016/j.parkreldis.2016.10.004. Epub 2016 Oct 7. No abstract available.

PMID:
27743700
30.

Conjugal parkinsonism - Clinical, pathology and genetic study. No evidence of person-to-person transmission.

Rajput AH, Ferguson LW, Robinson CA, Guella I, Farrer MJ, Rajput A.

Parkinsonism Relat Disord. 2016 Oct;31:87-90. doi: 10.1016/j.parkreldis.2016.07.011. Epub 2016 Jul 26.

PMID:
27481034
31.

DCTN1 p.K56R in progressive supranuclear palsy.

Gustavsson EK, Trinh J, Guella I, Szu-Tu C, Khinda J, Lin CH, Wu RM, Stoessl J, Appel-Cresswell S, McKeown M, Rajput A, Rajput AH, Petersen MS, Jeon BS, Aasly JO, Farrer MJ.

Parkinsonism Relat Disord. 2016 Jul;28:56-61. doi: 10.1016/j.parkreldis.2016.04.025. Epub 2016 Apr 23.

PMID:
27132499
32.

α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.

Guella I, Evans DM, Szu-Tu C, Nosova E, Bortnick SF; SNCA Cognition Study Group, Goldman JG, Dalrymple-Alford JC, Geurtsen GJ, Litvan I, Ross OA, Middleton LT, Parkkinen L, Farrer MJ.

Ann Neurol. 2016 Jun;79(6):991-9. doi: 10.1002/ana.24664. Epub 2016 May 5.

33.

Leucine-rich repeat kinase 2 is a regulator of B cell function, affecting homeostasis, BCR signaling, IgA production, and TI antigen responses.

Kubo M, Nagashima R, Ohta E, Maekawa T, Isobe Y, Kurihara M, Eshima K, Iwabuchi K, Sasaoka T, Azuma S, Melrose HL, Farrer MJ, Obata F.

J Neuroimmunol. 2016 Mar 15;292:1-8. doi: 10.1016/j.jneuroim.2016.01.005. Epub 2016 Jan 8.

PMID:
26943952
34.

Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3β activity.

Lin CH, Lin HI, Chen ML, Lai TT, Cao LP, Farrer MJ, Wu RM, Chien CT.

Hum Mol Genet. 2016 May 15;25(10):1965-1978. Epub 2016 Feb 29.

PMID:
26931464
35.

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.

Carr J, Guella I, Szu-Tu C, Boolay S, Glanzmann B, Farrer MJ, Bardien S.

Mov Disord. 2016 Mar;31(3):423-5. doi: 10.1002/mds.26524. Epub 2016 Feb 10. No abstract available.

PMID:
26860075
36.

Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson's disease.

Volta M, Milnerwood AJ, Farrer MJ.

Lancet Neurol. 2015 Oct;14(10):1054-64. doi: 10.1016/S1474-4422(15)00186-6. Review.

PMID:
26376970
37.

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.

Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium.

Neurology. 2015 Oct 13;85(15):1283-92. doi: 10.1212/WNL.0000000000002016. Epub 2015 Sep 9.

38.

Chronic and acute LRRK2 silencing has no long-term behavioral effects, whereas wild-type and mutant LRRK2 overexpression induce motor and cognitive deficits and altered regulation of dopamine release.

Volta M, Cataldi S, Beccano-Kelly D, Munsie L, Tatarnikov I, Chou P, Bergeron S, Mitchell E, Lim R, Khinda J, Lloret A, Bennett CF, Paradiso C, Morari M, Farrer MJ, Milnerwood AJ.

Parkinsonism Relat Disord. 2015 Oct;21(10):1156-63. doi: 10.1016/j.parkreldis.2015.07.025. Epub 2015 Aug 1.

PMID:
26282470
39.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA.

Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770.

40.

Novel LRRK2 mutations in Parkinsonism.

Trinh J, Guella I, McKenzie M, Gustavsson EK, Szu-Tu C, Petersen MS, Rajput A, Rajput AH, McKeown M, Jeon BS, Aasly JO, Bardien S, Farrer MJ.

Parkinsonism Relat Disord. 2015 Sep;21(9):1119-21. doi: 10.1016/j.parkreldis.2015.07.011. Epub 2015 Jul 18. No abstract available.

PMID:
26213354
41.

Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice.

Yue M, Hinkle KM, Davies P, Trushina E, Fiesel FC, Christenson TA, Schroeder AS, Zhang L, Bowles E, Behrouz B, Lincoln SJ, Beevers JE, Milnerwood AJ, Kurti A, McLean PJ, Fryer JD, Springer W, Dickson DW, Farrer MJ, Melrose HL.

Neurobiol Dis. 2015 Jun;78:172-95. doi: 10.1016/j.nbd.2015.02.031. Epub 2015 Mar 31.

42.

[11C]PBR28 PET imaging is sensitive to neuroinflammation in the aged rat.

Walker MD, Dinelle K, Kornelsen R, Lee NV, Miao Q, Adam M, Takhar C, Mak E, Schulzer M, Farrer MJ, Sossi V.

J Cereb Blood Flow Metab. 2015 Aug;35(8):1331-8. doi: 10.1038/jcbfm.2015.54. Epub 2015 Apr 1.

43.

Familial aggregation of Parkinson's disease in the Faroe Islands.

Petersen MS, Bech S, Nosova E, Aasly J, Farrer MJ.

Mov Disord. 2015 Apr;30(4):538-44. doi: 10.1002/mds.26132. Epub 2015 Jan 20.

PMID:
25600277
44.

Defining neurodegeneration on Guam by targeted genomic sequencing.

Steele JC, Guella I, Szu-Tu C, Lin MK, Thompson C, Evans DM, Sherman HE, Vilariño-Güell C, Gwinn K, Morris H, Dickson DW, Farrer MJ.

Ann Neurol. 2015 Mar;77(3):458-68. doi: 10.1002/ana.24346. Epub 2015 Feb 3.

PMID:
25558820
45.

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ.

Brain. 2015 May;138(Pt 5):e349. doi: 10.1093/brain/awu341. Epub 2014 Dec 13. No abstract available.

46.

Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study.

Nabli F, Ben Sassi S, Amouri R, Duda JE, Farrer MJ, Hentati F.

Mov Disord. 2015 Feb;30(2):253-8. doi: 10.1002/mds.26097. Epub 2014 Dec 9.

PMID:
25487881
47.

Genetic variability of the retromer cargo recognition complex in parkinsonism.

Gustavsson EK, Guella I, Trinh J, Szu-Tu C, Rajput A, Rajput AH, Steele JC, McKeown M, Jeon BS, Aasly JO, Farrer MJ.

Mov Disord. 2015 Apr;30(4):580-4. doi: 10.1002/mds.26104. Epub 2014 Dec 5.

PMID:
25475142
48.

Parkinson's disease, genetic variability and the Faroe Islands.

Petersen MS, Guella I, Bech S, Gustavsson E, Farrer MJ.

Parkinsonism Relat Disord. 2015 Jan;21(1):75-8. doi: 10.1016/j.parkreldis.2014.10.027. Epub 2014 Nov 4.

PMID:
25466404
49.

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N.

Munsie LN, Milnerwood AJ, Seibler P, Beccano-Kelly DA, Tatarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ.

Hum Mol Genet. 2015 Mar 15;24(6):1691-703. doi: 10.1093/hmg/ddu582. Epub 2014 Nov 21.

PMID:
25416282
50.

DNAJC13 genetic variants in parkinsonism.

Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ.

Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12.

PMID:
25393719

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