Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 99

1.

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
2.

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

Pimentel MM, Rodrigues FC, Leite MA, Campos Júnior M, Rosso AL, Nicaretta DH, Pereira JS, Silva DJ, Della Coletta MV, Vasconcellos LF, Abreu GM, Dos Santos JM, Santos-Rebouças CB.

Parkinsonism Relat Disord. 2015 Jun;21(6):586-9. doi: 10.1016/j.parkreldis.2015.03.011. Epub 2015 Mar 14.

PMID:
25817515
3.

Divergent effects of the H50Q and G51D SNCA mutations on the aggregation of α-synuclein.

Rutherford NJ, Moore BD, Golde TE, Giasson BI.

J Neurochem. 2014 Dec;131(6):859-67. doi: 10.1111/jnc.12806. Epub 2014 Jul 21.

4.

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.

5.

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

Nishioka K, Hattori N.

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

PMID:
17713118
6.

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
7.

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A.

Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2.

8.

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

Puschmann A, Wszolek ZK, Farrer M, Gustafson L, Widner H, Nilsson C.

Parkinsonism Relat Disord. 2009 Jun;15(5):390-2. doi: 10.1016/j.parkreldis.2008.08.002. Epub 2008 Sep 27.

PMID:
18824390
9.

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease.

Hope AD, Myhre R, Kachergus J, Lincoln S, Bisceglio G, Hulihan M, Farrer MJ.

Neurosci Lett. 2004 Aug 26;367(1):97-100.

PMID:
15308306
10.

The many faces of alpha-synuclein mutations.

Kasten M, Klein C.

Mov Disord. 2013 Jun;28(6):697-701. doi: 10.1002/mds.25499. Epub 2013 May 14.

PMID:
23674458
11.

The Parkinson's disease-associated H50Q mutation accelerates α-Synuclein aggregation in vitro.

Ghosh D, Mondal M, Mohite GM, Singh PK, Ranjan P, Anoop A, Ghosh S, Jha NN, Kumar A, Maji SK.

Biochemistry. 2013 Oct 8;52(40):6925-7. doi: 10.1021/bi400999d. Epub 2013 Sep 23.

PMID:
24047453
12.

Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.

Pastor P, Muñoz E, Ezquerra M, Obach V, Martí MJ, Valldeoriola F, Tolosa E, Oliva R.

Mov Disord. 2001 Nov;16(6):1115-9.

PMID:
11748744
13.

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population.

Rajput A, Vilariño-Güell C, Rajput ML, Ross OA, Soto-Ortolaza AI, Lincoln SJ, Cobb SA, Heckman MG, Farrer MJ, Rajput A.

Mov Disord. 2009 Dec 15;24(16):2411-4. doi: 10.1002/mds.22795.

PMID:
19890971
14.

Molecular analysis of α-synuclein gene in Parkinson's disease in North Karnataka, India.

Kadakol GS, Kulkarni SS, Wali GM, Gai PB.

Neurol India. 2014 Mar-Apr;62(2):149-52. doi: 10.4103/0028-3886.132338.

15.

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.

Teive HA, Raskin S, Iwamoto FM, Germiniani FM, Baran MH, Werneck LC, Allan N, Quagliato E, Leroy E, Ide SE, Polymeropoulos MH.

Arq Neuropsiquiatr. 2001 Sep;59(3-B):722-4.

16.

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
17.

The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.

Khalaf O, Fauvet B, Oueslati A, Dikiy I, Mahul-Mellier AL, Ruggeri FS, Mbefo MK, Vercruysse F, Dietler G, Lee SJ, Eliezer D, Lashuel HA.

J Biol Chem. 2014 Aug 8;289(32):21856-76. doi: 10.1074/jbc.M114.553297. Epub 2014 Jun 16.

18.

A novel α-synuclein missense mutation in Parkinson disease.

Proukakis C, Dudzik CG, Brier T, MacKay DS, Cooper JM, Millhauser GL, Houlden H, Schapira AH.

Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.

19.

Novel alpha-synuclein-immunoreactive proteins in brain samples from the Contursi kindred, Parkinson's, and Alzheimer's disease.

Langston JW, Sastry S, Chan P, Forno LS, Bolin LM, Di Monte DA.

Exp Neurol. 1998 Dec;154(2):684-90.

PMID:
9878203
20.

No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.

Lincoln S, Crook R, Chartier-Harlin MC, Gwinn-Hardy K, Baker M, Mouroux V, Richard F, Becquet E, Amouyel P, Destée A, Hardy J, Farrer M.

Neurosci Lett. 1999 Jul 9;269(2):107-9.

PMID:
10430516

Supplemental Content

Support Center