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Items: 1 to 20 of 140

1.

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H.

Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221.

PMID:
20669327
2.

Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.

Lai HJ, Lin CH, Wu RM.

Acta Neurol Taiwan. 2012 Sep;21(3):99-107. Review.

3.

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21.

4.

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network, Bonifati V.

Neurology. 2007 May 8;68(19):1557-62.

PMID:
17485642
5.

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.

Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V.

Neurology. 2009 Jan 20;72(3):240-5. doi: 10.1212/01.wnl.0000338144.10967.2b. Epub 2008 Nov 26.

PMID:
19038853
6.

Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.

Radi E, Formichi P, Di Maio G, Battisti C, Federico A.

J Cell Mol Med. 2012 Aug;16(8):1916-23. doi: 10.1111/j.1582-4934.2011.01488.x.

7.

Rare causes of dystonia parkinsonism.

Schneider SA, Bhatia KP.

Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. Review.

PMID:
20694531
8.

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Yang X, Xu Y.

Biomed Res Int. 2014;2014:371256. doi: 10.1155/2014/371256. Epub 2014 Aug 14. Review.

9.

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N.

Neurology. 2010 Oct 12;75(15):1356-61. doi: 10.1212/WNL.0b013e3181f73649.

PMID:
20938027
10.

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A.

Mov Disord. 2010 Sep 15;25(12):1929-37. doi: 10.1002/mds.22996.

PMID:
20683840
11.

Autosomal recessive parkinsonism.

Bonifati V.

Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S4-6. doi: 10.1016/S1353-8020(11)70004-9. Review.

PMID:
22166450
12.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Bohlega SA, Al-Mubarak BR, Alyemni EA, Abouelhoda M, Monies D, Mustafa AE, Khalil DS, Al Haibi S, Abou Al-Shaar H, Faquih T, El-Kalioby M, Tahir AI, Al Tassan NA.

BMC Res Notes. 2016 Jun 7;9:295. doi: 10.1186/s13104-016-2102-7.

13.

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA.

Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415.

PMID:
18570303
14.

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.

Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ.

Mov Disord. 2005 Oct;20(10):1264-71.

PMID:
15986421
15.

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.

Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H.

Neurosci Lett. 2012 Aug 8;523(1):35-8. doi: 10.1016/j.neulet.2012.06.036. Epub 2012 Jun 25.

16.

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

Zhao T, De Graaff E, Breedveld GJ, Loda A, Severijnen LA, Wouters CH, Verheijen FW, Dekker MC, Montagna P, Willemsen R, Oostra BA, Bonifati V.

PLoS One. 2011 Feb 11;6(2):e16983. doi: 10.1371/journal.pone.0016983.

17.

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.

Shi CH, Tang BS, Wang L, Lv ZY, Wang J, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Guo JF.

Neurology. 2011 Jul 5;77(1):75-81. doi: 10.1212/WNL.0b013e318221acd3. Epub 2011 Jun 22.

PMID:
21700586
18.

FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.

Luo LZ, Xu Q, Guo JF, Wang L, Shi CH, Wei JH, Long ZG, Pan Q, Tang BS, Xia K, Yan XX.

Neurosci Lett. 2010 Sep 27;482(2):86-9. doi: 10.1016/j.neulet.2010.06.083. Epub 2010 Jul 14.

PMID:
20603184
19.

Complicated recessive dystonia parkinsonism syndromes.

Schneider SA, Bhatia KP, Hardy J.

Mov Disord. 2009 Mar 15;24(4):490-9. doi: 10.1002/mds.22314. Review.

PMID:
19185014
20.

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM.

Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12.

PMID:
21542062

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