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Items: 19

1.

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA, Alcalay RN.

Mov Disord. 2017 Nov;32(11):1504-1523. doi: 10.1002/mds.27193. Review.

PMID:
29124790
2.

Visual dysfunction in Parkinson's disease.

Weil RS, Schrag AE, Warren JD, Crutch SJ, Lees AJ, Morris HR.

Brain. 2016 Nov 1;139(11):2827-2843. doi: 10.1093/brain/aww175. Review.

3.

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

Ferese R, Modugno N, Campopiano R, Santilli M, Zampatti S, Giardina E, Nardone A, Postorivo D, Fornai F, Novelli G, Romoli E, Ruggieri S, Gambardella S.

Parkinsons Dis. 2015;2015:546462. doi: 10.1155/2015/546462. Epub 2015 Nov 9.

4.

Autosomal dominant Parkinson's disease caused by SNCA duplications.

Konno T, Ross OA, Puschmann A, Dickson DW, Wszolek ZK.

Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1:S1-6. doi: 10.1016/j.parkreldis.2015.09.007. Epub 2015 Sep 3. Review.

5.

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.

6.

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.

Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H.

JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994.

7.

Alpha-synuclein mRNA expression in oligodendrocytes in MSA.

Asi YT, Simpson JE, Heath PR, Wharton SB, Lees AJ, Revesz T, Houlden H, Holton JL.

Glia. 2014 Jun;62(6):964-70. doi: 10.1002/glia.22653. Epub 2014 Mar 3.

8.

Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism.

Perandones C, Giugni JC, Calvo DS, Raina GB, De Jorge Lopez L, Volpini V, Zabetian CP, Mata IF, Caputo M, Corach D, Radrizzani M, Micheli FE.

Parkinsonism Relat Disord. 2014 May;20(5):558-61. doi: 10.1016/j.parkreldis.2013.11.014. Epub 2013 Nov 27. No abstract available.

9.

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A, Kozubski W, Lianeri M, Dorszewska J.

Curr Genomics. 2013 Dec;14(8):502-17. doi: 10.2174/1389202914666131210205839.

10.

Diversity of pathological features other than Lewy bodies in familial Parkinson's disease due to SNCA mutations.

Fujishiro H, Imamura AY, Lin WL, Uchikado H, Mark MH, Golbe LI, Markopoulou K, Wszolek ZK, Dickson DW.

Am J Neurodegener Dis. 2013 Nov 29;2(4):266-75. eCollection 2013.

11.

Epigenetic mechanisms and therapeutic perspectives for neurodevelopmental disorders.

Kubota T, Takae H, Miyake K.

Pharmaceuticals (Basel). 2012 Apr 5;5(4):369-83. doi: 10.3390/ph5040369.

12.

In vivo electrophysiology of nigral and thalamic neurons in alpha-synuclein-overexpressing mice highlights differences from toxin-based models of parkinsonism.

Lobb CJ, Zaheer AK, Smith Y, Jaeger D.

J Neurophysiol. 2013 Dec;110(12):2792-805. doi: 10.1152/jn.00441.2013. Epub 2013 Sep 25.

13.

Parkinson's disease--the debate on the clinical phenomenology, aetiology, pathology and pathogenesis.

Jenner P, Morris HR, Robbins TW, Goedert M, Hardy J, Ben-Shlomo Y, Bolam P, Burn D, Hindle JV, Brooks D.

J Parkinsons Dis. 2013;3(1):1-11. doi: 10.3233/JPD-130175. Review.

14.

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL.

Acta Neuropathol. 2013 May;125(5):753-69. doi: 10.1007/s00401-013-1096-7. Epub 2013 Feb 12.

15.

The genetics and neuropathology of Parkinson's disease.

Houlden H, Singleton AB.

Acta Neuropathol. 2012 Sep;124(3):325-38. doi: 10.1007/s00401-012-1013-5. Epub 2012 Jul 18. Review.

16.

The neuropathology of genetic Parkinson's disease.

Poulopoulos M, Levy OA, Alcalay RN.

Mov Disord. 2012 Jun;27(7):831-42. doi: 10.1002/mds.24962. Epub 2012 Mar 26. Review.

17.

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C.

Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review.

18.

Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.

Dickson DW, Baker M, Rademakers R.

Neurodegener Dis. 2010;7(1-3):170-4. doi: 10.1159/000289231. Epub 2010 Mar 3.

19.

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.

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