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Items: 1 to 20 of 109

1.

alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

Ahn TB, Kim SY, Kim JY, Park SS, Lee DS, Min HJ, Kim YK, Kim SE, Kim JM, Kim HJ, Cho J, Jeon BS.

Neurology. 2008 Jan 1;70(1):43-9. Epub 2007 Jul 11.

PMID:
17625105
2.

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N.

Ann Neurol. 2006 Feb;59(2):298-309.

PMID:
16358335
3.

The heterozygous A53T mutation in the alpha-synuclein gene in a Chinese Han patient with Parkinson disease: case report and literature review.

Xiong WX, Sun YM, Guan RY, Luo SS, Chen C, An Y, Wang J, Wu JJ.

J Neurol. 2016 Oct;263(10):1984-92. doi: 10.1007/s00415-016-8213-1. Epub 2016 Jul 8. Review.

PMID:
27393118
4.

Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.

Jeon BS, Jeong JM, Park SS, Kim JM, Chang YS, Song HC, Kim KM, Yoon KY, Lee MC, Lee SB.

Ann Neurol. 1998 Jun;43(6):792-800.

PMID:
9629849
5.

Expanding the clinical phenotype of SNCA duplication carriers.

Nishioka K, Ross OA, Ishii K, Kachergus JM, Ishiwata K, Kitagawa M, Kono S, Obi T, Mizoguchi K, Inoue Y, Imai H, Takanashi M, Mizuno Y, Farrer MJ, Hattori N.

Mov Disord. 2009 Sep 15;24(12):1811-9. doi: 10.1002/mds.22682.

PMID:
19562770
6.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL.

Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3.

7.

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ.

Neurology. 2007 Mar 20;68(12):916-22. Epub 2007 Jan 24.

PMID:
17251522
8.

Genomic investigation of alpha-synuclein multiplication and parkinsonism.

Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ.

Ann Neurol. 2008 Jun;63(6):743-50. doi: 10.1002/ana.21380.

9.

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.

Kim JM, Hong S, Kim GP, Choi YJ, Kim YK, Park SS, Kim SE, Jeon BS.

Arch Neurol. 2007 Oct;64(10):1510-8.

PMID:
17923635
10.

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
11.

(123)I-FP-CIT SPET striatal uptake in parkinsonian patients with the alpha-synuclein (G209A) mutation A.

Bostantjopoulou S, Katsarou Z, Gerasimou G, Costa DC, Gotzamani-Psarrakou A.

Hell J Nucl Med. 2008 Sep-Dec;11(3):157-9.

PMID:
19081858
12.

Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy.

Lincoln SJ, Ross OA, Milkovic NM, Dickson DW, Rajput A, Robinson CA, Papapetropoulos S, Mash DC, Farrer MJ.

Parkinsonism Relat Disord. 2007 Aug;13(6):340-2. Epub 2007 Feb 8.

13.

Genetic Variants of SNCA Are Associated with Susceptibility to Parkinson's Disease but Not Amyotrophic Lateral Sclerosis or Multiple System Atrophy in a Chinese Population.

Chen Y, Wei QQ, Ou R, Cao B, Chen X, Zhao B, Guo X, Yang Y, Chen K, Wu Y, Song W, Shang HF.

PLoS One. 2015 Jul 24;10(7):e0133776. doi: 10.1371/journal.pone.0133776. eCollection 2015.

14.

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB.

Neurology. 2004 Aug 10;63(3):554-6.

PMID:
15304594
15.

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A.

Lancet. 2004 Sep 25-Oct 1;364(9440):1167-9.

PMID:
15451224
16.

[Relationship between alpha-synuclein and Parkinson's disease].

Nishioka K, Hattori N.

Brain Nerve. 2007 Aug;59(8):825-30. Review. Japanese.

PMID:
17713118
17.

alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.

Sironi F, Trotta L, Antonini A, Zini M, Ciccone R, Della Mina E, Meucci N, Sacilotto G, Primignani P, Brambilla T, Coviello DA, Pezzoli G, Goldwurm S.

Parkinsonism Relat Disord. 2010 Mar;16(3):228-31. doi: 10.1016/j.parkreldis.2009.09.008. Epub 2009 Oct 14.

PMID:
19833540
18.

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H, Yuan L.

Ageing Res Rev. 2014 May;15:161-76. doi: 10.1016/j.arr.2014.04.002. Epub 2014 Apr 21. Review.

PMID:
24768741
19.

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF, Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M, Takahashi H, Ishikawa A.

Arch Neurol. 2008 Apr;65(4):514-9. doi: 10.1001/archneur.65.4.514.

PMID:
18413475
20.

Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease.

Deng S, Deng X, Yuan L, Song Z, Yang Z, Xiong W, Deng H.

Acta Neurol Belg. 2015 Sep;115(3):267-71. doi: 10.1007/s13760-014-0347-2. Epub 2014 Aug 5.

PMID:
25092551

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