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Items: 1 to 20 of 63

1.

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.

2.

Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease.

Zhang Y, Chen S, Xiao Q, Cao L, Liu J, Rong TY, Ma JF, Wang G, Wang Y, Chen SD.

Parkinsonism Relat Disord. 2012 Jun;18(5):638-40. doi: 10.1016/j.parkreldis.2012.02.011. Epub 2012 Mar 10.

PMID:
22410496
3.

VPS35 mutation in Japanese patients with typical Parkinson's disease.

Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N, Toyoda C, Noguchi K, Hashimoto T, Nakano N, Sasaki R, Kokubo Y, Kuzuhara S, Ogaki K, Yamashita C, Yoshino H, Hatano T, Tomiyama H, Hattori N.

Mov Disord. 2012 Sep 15;27(11):1413-7. doi: 10.1002/mds.25145. Epub 2012 Sep 18.

PMID:
22991136
4.

Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy.

Gagliardi M, Annesi G, Tarantino P, Nicoletti G, Quattrone A.

Neurobiol Aging. 2014 Oct;35(10):2422.e1-2. doi: 10.1016/j.neurobiolaging.2014.04.020. Epub 2014 Apr 26.

PMID:
24854799
5.

VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China.

Chen Y, Chen K, Song W, Chen X, Cao B, Huang R, Zhao B, Guo X, Burgunder J, Li J, Shang HF.

Neurobiol Aging. 2013 Jun;34(6):1709.e7-8. doi: 10.1016/j.neurobiolaging.2012.11.003. Epub 2012 Dec 20.

PMID:
23261770
6.

VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population.

Guo JF, Sun QY, Lv ZY, Yu RL, Li K, Zhang YH, Tian JY, Xia K, Yan XX, Tang BS.

Parkinsonism Relat Disord. 2012 Sep;18(8):983-5. doi: 10.1016/j.parkreldis.2012.05.002. Epub 2012 Jun 4.

PMID:
22673036
7.

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians.

Sudhaman S, Behari M, Govindappa ST, Muthane UB, Juyal RC, Thelma BK.

Neurobiol Aging. 2013 Oct;34(10):2442.e1-3. doi: 10.1016/j.neurobiolaging.2013.04.025. Epub 2013 May 28.

PMID:
23726718
8.

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM.

Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008.

9.

Screening for VPS35 mutations in Parkinson's disease.

Sheerin UM, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T, Limousin P, Silveira-Moriyama L, Lees A, Wood N.

Neurobiol Aging. 2012 Apr;33(4):838.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7.

10.

VPS35 mutations in Parkinson disease.

Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ.

Am J Hum Genet. 2011 Jul 15;89(1):162-7. doi: 10.1016/j.ajhg.2011.06.001. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):347.

11.

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease.

Guella I, Soldà G, Cilia R, Pezzoli G, Asselta R, Duga S, Goldwurm S.

Mov Disord. 2012 May;27(6):800-1. doi: 10.1002/mds.24927. Epub 2012 Jan 25. No abstract available.

PMID:
22278960
12.

Frequency of the D620N mutation in VPS35 in Parkinson disease.

Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K.

Arch Neurol. 2012 Oct;69(10):1360-4.

PMID:
22801713
13.

The VPS35 gene and Parkinson's disease.

Deng H, Gao K, Jankovic J.

Mov Disord. 2013 May;28(5):569-75. doi: 10.1002/mds.25430. Epub 2013 Mar 27. Review.

PMID:
23536430
14.

An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.

Török R, Zádori D, Török N, Csility É, Vécsei L, Klivényi P.

Neurosci Lett. 2016 Jan 1;610:135-8. doi: 10.1016/j.neulet.2015.11.001. Epub 2015 Nov 4.

PMID:
26547032
15.

VPS35 Parkinson's disease phenotype resembles the sporadic disease.

Struhal W, Presslauer S, Spielberger S, Zimprich A, Auff E, Bruecke T, Poewe W, Ransmayr G; Austrian VPS-35 Investigators Team.

J Neural Transm (Vienna). 2014 Jul;121(7):755-9. doi: 10.1007/s00702-014-1179-1. Epub 2014 Feb 21. Review.

PMID:
24557499
16.

Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

Myhre R, Klungland H, Farrer MJ, Aasly JO.

BMC Med Genet. 2008 Mar 21;9:19. doi: 10.1186/1471-2350-9-19.

17.

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

Nuytemans K, Bademci G, Inchausti V, Dressen A, Kinnamon DD, Mehta A, Wang L, Züchner S, Beecham GW, Martin ER, Scott WK, Vance JM.

Neurology. 2013 Mar 12;80(11):982-9. doi: 10.1212/WNL.0b013e31828727d4. Epub 2013 Feb 13.

18.

Mutations in VPS26A are not a frequent cause of Parkinson's disease.

Koschmidder E, Mollenhauer B, Kasten M, Klein C, Lohmann K.

Neurobiol Aging. 2014 Jun;35(6):1512.e1-2. doi: 10.1016/j.neurobiolaging.2013.12.016. Epub 2013 Dec 27.

PMID:
24417787
19.

D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population.

Kalinderi K, Bostantjopoulou S, Katsarou Z, Dimikiotou M, Fidani L.

Neurosci Lett. 2015 Oct 8;606:113-6. doi: 10.1016/j.neulet.2015.08.020. Epub 2015 Aug 20.

PMID:
26300542
20.

Genetics of Parkinson disease and other movement disorders.

Kumar KR, Lohmann K, Klein C.

Curr Opin Neurol. 2012 Aug;25(4):466-74. doi: 10.1097/WCO.0b013e3283547627. Review.

PMID:
22772876

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