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Items: 1 to 20 of 133

1.

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network.

Neurology. 2005 Jul 12;65(1):87-95.

PMID:
16009891
2.

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
3.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Myhre R, Steinkjer S, Stormyr A, Nilsen GL, Abu Zayyad H, Horany K, Nusier MK, Klungland H.

BMC Neurol. 2008 Dec 16;8:47. doi: 10.1186/1471-2377-8-47.

4.

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP.

Eur J Hum Genet. 2005 Sep;13(9):1086-93.

5.

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW.

J Med Genet. 2009 Jun;46(6):375-81. doi: 10.1136/jmg.2008.063917. Epub 2009 Apr 6.

6.

PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies.

Weng YH, Chou YH, Wu WS, Lin KJ, Chang HC, Yen TC, Chen RS, Wey SP, Lu CS.

J Neurol. 2007 Oct;254(10):1347-55. Epub 2007 Oct 15.

PMID:
17960343
7.

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.

Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, Cardoso F.

Mov Disord. 2009 Apr 15;24(5):662-6. doi: 10.1002/mds.22365.

8.

Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.

Scornaienchi V, Civitelli D, De Marco EV, Annesi G, Tarantino P, Rocca FE, Greco V, Provenzano G, Annesi F, Nicoletti G, Colica C, Uncini A, Salsone M, Novellino F, Morelli M, Arabia G, Gambardella A, Quattrone A.

Parkinsonism Relat Disord. 2012 Jun;18(5):651-3. doi: 10.1016/j.parkreldis.2011.08.017. Epub 2011 Sep 17.

PMID:
21925922
9.

Familial Parkinsonism with digenic parkin and PINK1 mutations.

Funayama M, Li Y, Tsoi TH, Lam CW, Ohi T, Yazawa S, Uyama E, Djaldetti R, Melamed E, Yoshino H, Imamichi Y, Takashima H, Nishioka K, Sato K, Tomiyama H, Kubo S, Mizuno Y, Hattori N.

Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143.

PMID:
18546294
10.

Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C.

Arch Neurol. 2006 Jun;63(6):833-8.

PMID:
16769864
11.

Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.

Siuda J, Jasinska-Myga B, Boczarska-Jedynak M, Opala G, Fiesel FC, Moussaud-Lamodière EL, Scarffe LA, Dawson VL, Ross OA, Springer W, Dawson TM, Wszolek ZK.

Parkinsonism Relat Disord. 2014 Nov;20(11):1274-8. doi: 10.1016/j.parkreldis.2014.08.019. Epub 2014 Sep 2.

12.

Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.

Monroy-Jaramillo N, Guerrero-Camacho JL, Rodríguez-Violante M, Boll-Woehrlen MC, Yescas-Gómez P, Alonso-Vilatela ME, López-López M.

Am J Med Genet B Neuropsychiatr Genet. 2014 Apr;165B(3):235-44. doi: 10.1002/ajmg.b.32228. Epub 2014 Feb 23.

PMID:
24677602
13.

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR.

Ann Neurol. 2004 Sep;56(3):336-41.

PMID:
15349860
14.

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

Koziorowski D, Hoffman-Zacharska D, Sławek J, Jamrozik Z, Janik P, Potulska-Chromik A, Roszmann A, Tataj R, Bal J, Friedman A.

Neurol Neurochir Pol. 2013 Jul-Aug;47(4):319-24.

PMID:
23986421
15.

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease.

Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N.

Arch Neurol. 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802.

PMID:
18541801
16.

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E.

Arch Neurol. 2006 Oct;63(10):1483-5.

PMID:
17030667
17.

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism.

Guo JF, Zhang XW, Nie LL, Zhang HN, Liao B, Li J, Wang L, Yan XX, Tang BS.

J Neurol. 2010 Jul;257(7):1170-5. doi: 10.1007/s00415-010-5485-8. Epub 2010 Feb 10.

PMID:
20146068
18.

Case-control study of the parkin gene in early-onset Parkinson disease.

Clark LN, Afridi S, Karlins E, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K.

Arch Neurol. 2006 Apr;63(4):548-52.

PMID:
16606767
19.

PINK1 (PARK6) associated Parkinson disease in Ireland.

Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, Gosal D, Muqit MM, Wood NW, Lynch T.

Neurology. 2004 Oct 26;63(8):1486-8.

PMID:
15505171
20.

PINK1 mutation heterozygosity and the risk of Parkinson's disease.

Toft M, Myhre R, Pielsticker L, White LR, Aasly JO, Farrer MJ.

J Neurol Neurosurg Psychiatry. 2007 Jan;78(1):82-4.

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