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Items: 18

1.

LRRK2 phosphorylation of auxilin mediates synaptic defects in dopaminergic neurons from patients with Parkinson's disease.

Nguyen M, Krainc D.

Proc Natl Acad Sci U S A. 2018 May 22;115(21):5576-5581. doi: 10.1073/pnas.1717590115. Epub 2018 May 7.

PMID:
29735704
2.

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A.

Curr Neurol Neurosci Rep. 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8. Review.

3.

The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.

Gorenberg EL, Chandra SS.

Front Neurosci. 2017 May 19;11:248. doi: 10.3389/fnins.2017.00248. eCollection 2017. Review.

4.

Trumping neurodegeneration: Targeting common pathways regulated by autosomal recessive Parkinson's disease genes.

Scott L, Dawson VL, Dawson TM.

Exp Neurol. 2017 Dec;298(Pt B):191-201. doi: 10.1016/j.expneurol.2017.04.008. Epub 2017 Apr 23. Review.

PMID:
28445716
5.

Genetics of Parkinson's disease.

Lill CM.

Mol Cell Probes. 2016 Dec;30(6):386-396. doi: 10.1016/j.mcp.2016.11.001. Epub 2016 Nov 4. Review.

PMID:
27818248
6.

DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population.

Shi C, Li F, Yang J, Zhang S, Mao C, Wang H, Shi M, Liu Y, Song B, Xu Y.

Neurosci Lett. 2016 Nov 10;634:60-62. doi: 10.1016/j.neulet.2016.09.044. Epub 2016 Sep 26.

PMID:
27687717
7.

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Yuan L, Song Z, Deng X, Zheng W, Guo Y, Yang Z, Deng H.

Sci Rep. 2016 Sep 22;6:33850. doi: 10.1038/srep33850.

8.

Retraction: Yu et al. Retraction.

Jiang T, Zhang YD, Tan L, Yu JT.

Ann Neurol. 2016 May 2. doi: 10.1002/ana.24676. [Epub ahead of print]

PMID:
27137708
9.

Retraction: DNAJC6 variants in Parkinson's disease and amyotrophic lateral sclerosis.

Jiang T, Zhang YD, Tan L, Yu JT.

Ann Neurol. 2016 Apr 4. doi: 10.1002/ana.24658. [Epub ahead of print]

PMID:
27042960
10.

Other Proteins Involved in Parkinson's Disease and Related Disorders.

Cardona F, Perez-Tur J.

Curr Protein Pept Sci. 2017;18(7):765-778. doi: 10.2174/1389203717666160311122152. Review.

PMID:
26965686
11.

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY, Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A.

Ann Neurol. 2016 Feb;79(2):335-7. doi: 10.1002/ana.24591. Epub 2016 Jan 19. No abstract available.

PMID:
26703368
12.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V.

Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.

PMID:
26528954
13.

Genetics of Parkinson's disease--state of the art, 2013.

Bonifati V.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S23-8. doi: 10.1016/S1353-8020(13)70009-9. Review.

PMID:
24262182
14.

Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

Jesús S, Gómez-Garre P, Carrillo F, Cáceres-Redondo MT, Huertas-Fernández I, Bernal-Bernal I, Bonilla-Toribio M, Vargas-González L, Carballo M, Mir P.

Parkinsonism Relat Disord. 2014 Feb;20(2):248-9. doi: 10.1016/j.parkreldis.2013.10.018. Epub 2013 Oct 31. No abstract available.

PMID:
24220513
15.

DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.

Foo JN, Liany H, Tan LC, Au WL, Prakash KM, Liu J, Tan EK.

Neurobiol Aging. 2014 Apr;35(4):935.e1-2. doi: 10.1016/j.neurobiolaging.2013.09.018. Epub 2013 Oct 12.

PMID:
24126164
16.

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A.

Parkinsonism Relat Disord. 2013 Apr;19(4):407-15. doi: 10.1016/j.parkreldis.2013.01.020. Epub 2013 Feb 23. Review.

PMID:
23462481
17.

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A.

Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006. Epub 2012 Dec 2.

PMID:
23211418
18.

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O.

PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1.

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