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Items: 1 to 50 of 112

1.

What Have We Learned from Cerebrospinal Fluid Studies about Biomarkers for Detecting LRRK2 Parkinson's Disease Patients and Healthy Subjects with Parkinson's-Associated LRRK2 Mutations?

Loeffler DA, Aasly JO, LeWitt PA, Coffey MP.

J Parkinsons Dis. 2019 Jul 12. doi: 10.3233/JPD-191630. [Epub ahead of print]

PMID:
31322581
2.

Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.

Gustavsson EK, Follett J, Farrer MJ, Aasly JO.

Muscle Nerve. 2019 Jun 26. doi: 10.1002/mus.26622. [Epub ahead of print]

PMID:
31241196
3.

Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.

Ouzren N, Delcambre S, Ghelfi J, Seibler P, Farrer MJ, König IR, Aasly JO, Trinh J, Klein C, Grünewald A.

Ann Neurol. 2019 Aug;86(2):324-326. doi: 10.1002/ana.25510. Epub 2019 Jun 12. No abstract available.

PMID:
31148195
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.

The accuracy of the clinical diagnosis of Parkinson disease. The HUNT study.

Hustad E, Skogholt AH, Hveem K, Aasly JO.

J Neurol. 2018 Sep;265(9):2120-2124. doi: 10.1007/s00415-018-8969-6. Epub 2018 Jul 10.

6.

Cerebrospinal Fluid Concentration of Key Autophagy Protein Lamp2 Changes Little During Normal Aging.

Loeffler DA, Klaver AC, Coffey MP, Aasly JO.

Front Aging Neurosci. 2018 May 8;10:130. doi: 10.3389/fnagi.2018.00130. eCollection 2018.

7.

Exploring cancer in LRRK2 mutation carriers and idiopathic Parkinson's disease.

Warø BJ, Aasly JO.

Brain Behav. 2017 Dec 7;8(1):e00858. doi: 10.1002/brb3.858. eCollection 2018 Jan.

8.

The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study.

Liu SY, Wile DJ, Fu JF, Valerio J, Shahinfard E, McCormick S, Mabrouk R, Vafai N, McKenzie J, Neilson N, Perez-Soriano A, Arena JE, Cherkasova M, Chan P, Zhang J, Zabetian CP, Aasly JO, Wszolek ZK, McKeown MJ, Adam MJ, Ruth TJ, Schulzer M, Sossi V, Stoessl AJ.

Lancet Neurol. 2018 Apr;17(4):309-316. doi: 10.1016/S1474-4422(18)30032-2. Epub 2018 Feb 16.

9.

CSF lamp2 concentrations are decreased in female Parkinson's disease patients with LRRK2 mutations.

Klaver AC, Coffey MP, Aasly JO, Loeffler DA.

Brain Res. 2018 Mar 15;1683:12-16. doi: 10.1016/j.brainres.2018.01.016. Epub 2018 Feb 3.

PMID:
29456132
10.

Alterations in the reduced pteridine contents in the cerebrospinal fluids of LRRK2 mutation carriers and patients with Parkinson's disease.

Ichinose H, Inoue KI, Arakawa S, Watanabe Y, Kurosaki H, Koshiba S, Hustad E, Takada M, Aasly JO.

J Neural Transm (Vienna). 2018 Jan;125(1):45-52. doi: 10.1007/s00702-017-1784-x. Epub 2017 Sep 1.

PMID:
28864907
11.

Challenges presented by Munchausen syndrome.

Schrader H, Aasly JO, Bøhmer T.

Tidsskr Nor Laegeforen. 2017 May 23;137(10):696-697. doi: 10.4045/tidsskr.17.0268. eCollection 2017 May. English, Norwegian. No abstract available.

12.

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.

13.

Increased Oxidative Stress Markers in Cerebrospinal Fluid from Healthy Subjects with Parkinson's Disease-Associated LRRK2 Gene Mutations.

Loeffler DA, Klaver AC, Coffey MP, Aasly JO, LeWitt PA.

Front Aging Neurosci. 2017 Apr 3;9:89. doi: 10.3389/fnagi.2017.00089. eCollection 2017.

14.

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.

15.

Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease.

Brockmann K, Schulte C, Schneiderhan-Marra N, Apel A, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Bernard A, Gasser T, Marras C, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Berg D, Maetzler W.

Eur J Neurol. 2017 Feb;24(2):427-e6. doi: 10.1111/ene.13223.

PMID:
28102045
16.

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.

17.

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, Rudzińska-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 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Erratum in: Brain. 2017 Jun 1;140(6):e37.

18.

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
19.

Age-Related Decrease in Heat Shock 70-kDa Protein 8 in Cerebrospinal Fluid Is Associated with Increased Oxidative Stress.

Loeffler DA, Klaver AC, Coffey MP, Aasly JO, LeWitt PA.

Front Aging Neurosci. 2016 Jul 26;8:178. doi: 10.3389/fnagi.2016.00178. eCollection 2016.

20.

Inflammatory profile in LRRK2-associated prodromal and clinical PD.

Brockmann K, Apel A, Schulte C, Schneiderhan-Marra N, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Gasser T, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Marras C, Berg D, Maetzler W.

J Neuroinflammation. 2016 May 24;13(1):122. doi: 10.1186/s12974-016-0588-5.

21.

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
22.

CSF Nrf2 and HSPA8 in Parkinson's disease patients with and without LRRK2 gene mutations.

Loeffler DA, Smith LM, Coffey MP, Aasly JO, LeWitt PA.

J Neural Transm (Vienna). 2016 Mar;123(3):179-87. doi: 10.1007/s00702-015-1479-0. Epub 2015 Nov 3.

PMID:
26526034
23.

Effect of Tween-20 on Core Biomarkers Measured in Cerebrospinal Fluid from Patients with Alzheimer's Disease, Mild Cognitive Impairment, or Healthy Control Individuals.

Berge G, Lauridsen C, Sando SB, Holder DJ, Møller I, Aasly JO, Bråthen G, Savage MJ, White LR.

J Alzheimers Dis. 2016;49(2):493-502. doi: 10.3233/JAD-150234.

PMID:
26484901
24.

Erratum to: Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.

Sevlever D, Zou F, Ma L, Carrasquillo S, Crump MG, Culley OJ, Hunter TA, Bisceglio GD, Younkin L, Allen M, Carrasquillo MM, Sando SB, Aasly JO, Dickson DW, Graff-Radford NR, Petersen RC, Deák F; Kevin Morgan for ARUK consortium, Belbin O.

Mol Neurodegener. 2015 Sep 23;10:49. doi: 10.1186/s13024-015-0047-2.

25.

Changes to Intermediary Metabolites in Sporadic and LRRK2 Parkinson's Disease Demonstrated by Proton Magnetic Resonance Spectroscopy.

Aasly JO, Sæther O, Johansen KK, Bathen TF, Giskeødegård GF, White LR.

Parkinsons Dis. 2015;2015:264896. doi: 10.1155/2015/264896. Epub 2015 Aug 18.

26.

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.

27.

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
28.

Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.

Sevlever D, Zou F, Ma L, Carrasquillo S, Crump MG, Culley OJ, Hunter TA, Bisceglio GD, Younkin L, Allen M, Carrasquillo MM, Sando SB, Aasly JO, Dickson DW, Graff-Radford NR, Petersen RC, Deák F; Kevin Morgan for ARUK consortium, Belbin O.

Mol Neurodegener. 2015 Apr 9;10:18. doi: 10.1186/s13024-015-0015-x. Erratum in: Mol Neurodegener. 2015;10:49. Deák, Ferenc [added]. Mol Neurodegener. 2015;10:49.

29.

Phosphorylated α-synuclein in Parkinson's disease: correlation depends on disease severity.

Stewart T, Sossi V, Aasly JO, Wszolek ZK, Uitti RJ, Hasegawa K, Yokoyama T, Zabetian CP, Leverenz JB, Stoessl AJ, Wang Y, Ginghina C, Liu C, Cain KC, Auinger P, Kang UJ, Jensen PH, Shi M, Zhang J.

Acta Neuropathol Commun. 2015 Jan 31;3:7. doi: 10.1186/s40478-015-0185-3.

30.

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
31.

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martínez J, Marti-Masso JF, Ferrer I, López de Munain A, Goldman SM, Schüle B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, Maues De Paula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C.

JAMA Neurol. 2015 Jan;72(1):100-5. doi: 10.1001/jamaneurol.2014.2704.

32.

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
33.

Elevated levels of cerebrospinal fluid α-synuclein oligomers in healthy asymptomatic LRRK2 mutation carriers.

Aasly JO, Johansen KK, Brønstad G, Warø BJ, Majbour NK, Varghese S, Alzahmi F, Paleologou KE, Amer DA, Al-Hayani A, El-Agnaf OM.

Front Aging Neurosci. 2014 Sep 25;6:248. doi: 10.3389/fnagi.2014.00248. eCollection 2014.

34.

Changes in actin dynamics and F-actin structure both in synaptoneurosomes of LRRK2(R1441G) mutant mice and in primary human fibroblasts of LRRK2(G2019S) mutation carriers.

Caesar M, Felk S, Aasly JO, Gillardon F.

Neuroscience. 2015 Jan 22;284:311-24. doi: 10.1016/j.neuroscience.2014.09.070. Epub 2014 Oct 6.

PMID:
25301747
35.

LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance.

Hentati F, Trinh J, Thompson C, Nosova E, Farrer MJ, Aasly JO.

Neurology. 2014 Aug 5;83(6):568-9. doi: 10.1212/WNL.0000000000000675. Epub 2014 Jul 9. No abstract available.

36.

Changes in matrix metalloprotease activity and progranulin levels may contribute to the pathophysiological function of mutant leucine-rich repeat kinase 2.

Caesar M, Felk S, Zach S, Brønstad G, Aasly JO, Gasser T, Gillardon F.

Glia. 2014 Jul;62(7):1075-92. doi: 10.1002/glia.22663. Epub 2014 Mar 20.

PMID:
24652679
37.

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.

Medway CW, Abdul-Hay S, Mims T, Ma L, Bisceglio G, Zou F, Pankratz S, Sando SB, Aasly JO, Barcikowska M, Siuda J, Wszolek ZK, Ross OA, Carrasquillo M, Dickson DW, Graff-Radford N, Petersen RC, Ertekin-Taner N, Morgan K, Bu G, Younkin SG.

Mol Neurodegener. 2014 Mar 10;9:11. doi: 10.1186/1750-1326-9-11.

38.

Alpha-synuclein repeat variants and survival in Parkinson's disease.

Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, Krüger R, Lesage S, Markopoulou K, Mellick G, Morrison KE, Puschmann A, Tan EK, Crosiers D, Theuns J, Van Broeckhoven C, Wirdefeldt K, Wszolek ZK, Elbaz A, Maraganore DM; Genetic Epidemiology of Parkinson's Disease Consortium.

Mov Disord. 2014 Jul;29(8):1053-7. doi: 10.1002/mds.25841. Epub 2014 Feb 27.

39.

DNAJC13 mutations in Parkinson disease.

Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ.

Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11.

40.

Progressive multifocal leukoencephalopathy in an immunocompetent patient?

Johansen KK, Torp SH, Rydland J, Aasly JO.

Case Rep Neurol. 2013 Sep 4;5(3):149-54. doi: 10.1159/000354828. eCollection 2013.

41.

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.

Neurobiol Aging. 2014 Jan;35(1):266.e5-14. doi: 10.1016/j.neurobiolaging.2013.07.013. Epub 2013 Aug 17.

42.

Olfactory dysfunction in sporadic Parkinson's Disease and LRRK2 carriers.

Johansen KK, Warø BJ, Aasly JO.

Acta Neurol Scand. 2014 May;129(5):300-6. doi: 10.1111/ane.12172. Epub 2013 Aug 13.

PMID:
23937295
43.

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Mov Disord. 2013 Oct;28(12):1740-4. doi: 10.1002/mds.25600. Epub 2013 Aug 2.

44.

LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD).

Lincoln S, Allen M, Cox CL, Walker LP, Malphrus K, Qiu Y, Nguyen T, Rowley C, Kouri N, Crook J, Pankratz VS, Younkin S, Younkin L, Carrasquillo M, Zou F, Abdul-Hay SO, Springer W, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Lewis JM, Dickson D, Graff-Radford NR, Petersen RC, Eckman E, Younkin SG, Ertekin-Taner N.

PLoS One. 2013 Jun 4;8(6):e64164. doi: 10.1371/journal.pone.0064164. Print 2013.

45.

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, Sherman H, Yu I, Shah B, Weir D, Thompson C, Szu-Tu C, Trinh J, Aasly JO, Rajput A, Rajput AH, Jon Stoessl A, Farrer MJ.

Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1.

PMID:
23457019
46.

STX6 rs1411478 is not associated with increased risk of Parkinson's disease.

Trinh J, Vilariño-Güell C, Donald A, Shah B, Yu I, Szu-Tu C, Aasly JO, Wu RM, Hentati F, Rajput AH, Rajput A, Farrer MJ.

Parkinsonism Relat Disord. 2013 May;19(5):563-5. doi: 10.1016/j.parkreldis.2013.01.019. Epub 2013 Feb 14.

PMID:
23415606
47.

IgM to S-nitrosylated protein is found intrathecally in relapsing-remitting multiple sclerosis.

Hvaring C, Vujicic S, Aasly JO, Feinstein DL, White LR, Boullerne AI.

J Neuroimmunol. 2013 Mar 15;256(1-2):77-83. doi: 10.1016/j.jneuroim.2012.12.011. Epub 2013 Jan 22.

PMID:
23351705
48.

Three family members with elevated plasma cobalamin, transcobalamin and soluble transcobalamin receptor (sCD320).

Hoffmann-Lücke E, Arendt JF, Nissen PH, Mikkelsen G, Aasly JO, Nexo E.

Clin Chem Lab Med. 2013 Mar 1;51(3):677-82. doi: 10.1515/cclm-2012-0554.

PMID:
23183759
49.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium.

J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. Erratum in: J Med Genet. 2013 Mar;50(3):202.

50.

Large-scale replication and heterogeneity in Parkinson disease genetic loci.

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEO-PD Consortium.

Neurology. 2012 Aug 14;79(7):659-67. doi: 10.1212/WNL.0b013e318264e353. Epub 2012 Jul 11.

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