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Results: 1 to 20 of 72

1.

Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.

Doostzadeh J, Tetrud JW, Allen-Auerbach M, Langston JW, Schüle B.

Parkinsonism Relat Disord. 2007 Aug;13(6):359-61. Epub 2006 Oct 19.

PMID:
17055324
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
19351622
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Toda T, Mizuno Y, Hattori N.

Neurology. 2005 Jun 14;64(11):1955-7.

PMID:
15955953
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
19087301
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C.

Neurology. 2008 Apr 1;70(14):1186-91. doi: 10.1212/01.wnl.0000307748.11216.03.

PMID:
18378882
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit.

Eggers C, Schmidt A, Hagenah J, Brüggemann N, Klein JC, Tadic V, Kertelge L, Kasten M, Binkofski F, Siebner H, Neumaier B, Fink GR, Hilker R, Klein C.

Neurology. 2010 Jun 1;74(22):1798-805. doi: 10.1212/WNL.0b013e3181e0f79c.

PMID:
20513816
[PubMed - indexed for MEDLINE]
14.

Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia.

Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, van Eimeren T, Thiel A, Büchel C, Pramstaller PP, Siebner HR, Klein C.

Neurology. 2007 Aug 28;69(9):842-50.

PMID:
17724286
[PubMed - indexed for MEDLINE]
15.

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.

Leutenegger AL, Salih MA, Ibáñez P, Mukhtar MM, Lesage S, Arabi A, Lohmann E, Dürr A, Ahmed AE, Brice A.

Arch Neurol. 2006 Sep;63(9):1257-61.

PMID:
16966503
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
15970950
[PubMed - indexed for MEDLINE]
Free Article
17.

Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families.

Deng H, Le W, Shahed J, Xie W, Jankovic J.

Neurosci Lett. 2008 Jan 3;430(1):18-22.

PMID:
18068301
[PubMed - indexed for MEDLINE]
18.

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

Prestel J, Gempel K, Hauser TK, Schweitzer K, Prokisch H, Ahting U, Freudenstein D, Bueltmann E, Naegele T, Berg D, Klopstock T, Gasser T.

J Neurol. 2008 May;255(5):643-8. doi: 10.1007/s00415-008-0763-4. Epub 2008 Feb 21.

PMID:
18286320
[PubMed - indexed for MEDLINE]
19.

Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China.

Zhang BR, Hu ZX, Yin XZ, Cai M, Zhao GH, Liu ZR, Luo W.

Neurosci Lett. 2010 Jun 14;477(1):19-22. doi: 10.1016/j.neulet.2010.04.026. Epub 2010 Apr 23.

PMID:
20399249
[PubMed - indexed for MEDLINE]
20.

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes.

Fiorio M, Valente EM, Gambarin M, Bentivoglio AR, Ialongo T, Albanese A, Barone P, Pellecchia MT, Brancati F, Moretto G, Fiaschi A, Tinazzi M.

J Neurol. 2008 Sep;255(9):1372-7. doi: 10.1007/s00415-008-0923-6. Epub 2008 Jul 3.

PMID:
18584234
[PubMed - indexed for MEDLINE]

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