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Items: 1 to 20 of 32

1.

The diagnostic value of saccades in movement disorder patients: a practical guide and review.

Termsarasab P, Thammongkolchai T, Rucker JC, Frucht SJ.

J Clin Mov Disord. 2015 Oct 15;2:14. doi: 10.1186/s40734-015-0025-4. eCollection 2015. Review.

2.

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease.

Gan-Or Z, Dion PA, Rouleau GA.

Autophagy. 2015;11(9):1443-57. doi: 10.1080/15548627.2015.1067364.

PMID:
26207393
3.

PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

Karkheiran S, Shahidi GA, Walker RH, Paisán-Ruiz C.

Tremor Other Hyperkinet Mov (N Y). 2015 Jul 10;5:317. doi: 10.7916/D84Q7T4W. eCollection 2015.

4.

Calcium-independent phospholipases A2 and their roles in biological processes and diseases.

Ramanadham S, Ali T, Ashley JW, Bone RN, Hancock WD, Lei X.

J Lipid Res. 2015 Sep;56(9):1643-68. doi: 10.1194/jlr.R058701. Epub 2015 May 28.

PMID:
26023050
5.

ATP13A2/PARK9 Deficiency Neither Cause Lysosomal Impairment Nor Alter α-Synuclein Metabolism in SH-SY5Y Cells.

Bae EJ, Lee C, Lee HJ, Kim S, Lee SJ.

Exp Neurobiol. 2014 Dec;23(4):365-71. doi: 10.5607/en.2014.23.4.365. Epub 2014 Dec 12.

6.

ATP13A2 and Alpha-synuclein: a Metal Taste in Autophagy.

Lopes da Fonseca T, Outeiro TF.

Exp Neurobiol. 2014 Dec;23(4):314-23. doi: 10.5607/en.2014.23.4.314. Epub 2014 Dec 12. Review.

7.

FBXO7 Y52C polymorphism as a potential protective factor in Parkinson's disease.

Chen CM, Chen IC, Huang YC, Juan HF, Chen YL, Chen YC, Lin CH, Lee LC, Lee CM, Lee-Chen GJ, Lai YJ, Wu YR.

PLoS One. 2014 Jul 16;9(7):e101392. doi: 10.1371/journal.pone.0101392. eCollection 2014.

8.

Parkinson's disease: from genetics to clinical practice.

Clarimón J, Kulisevsky J.

Curr Genomics. 2013 Dec;14(8):560-7. doi: 10.2174/1389202914666131210212305.

9.

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C, Lim KL.

Curr Genomics. 2013 Dec;14(8):486-501. doi: 10.2174/1389202914666131210195808.

10.

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F.

Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17.

11.

The neuropathology of neurodegeneration with brain iron accumulation.

Kruer MC.

Int Rev Neurobiol. 2013;110:165-94. doi: 10.1016/B978-0-12-410502-7.00009-0. Review.

12.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.

13.

Unravelling mitochondrial pathways to Parkinson's disease.

Celardo I, Martins LM, Gandhi S.

Br J Pharmacol. 2014 Apr;171(8):1943-57. doi: 10.1111/bph.12433. Review.

14.

Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.

Nelson DE, Randle SJ, Laman H.

Open Biol. 2013 Oct 9;3(10):130131. doi: 10.1098/rsob.130131. Review.

15.

The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.

Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H, Plun-Favreau H.

Nat Neurosci. 2013 Sep;16(9):1257-65. doi: 10.1038/nn.3489. Epub 2013 Aug 11.

16.

Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.

Fung VS, Jinnah HA, Bhatia K, Vidailhet M.

Mov Disord. 2013 Jun 15;28(7):889-98. doi: 10.1002/mds.25549. Review.

17.

The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.

Kara E, Hardy J, Houlden H.

Curr Opin Neurol. 2013 Aug;26(4):381-94. doi: 10.1097/WCO.0b013e3283632e83. Review.

18.

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP.

Curr Neuropharmacol. 2013 Jan;11(1):59-79. doi: 10.2174/157015913804999469.

19.

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C.

Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.

20.

SPG11 Presenting with Tremor.

Schneider SA, Mummery CJ, Mehrabian M, Houlden H, Bain PG.

Tremor Other Hyperkinet Mov (N Y). 2012;2. pii: tre-02-104-666-1. Epub 2012 Sep 14.

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