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Items: 1 to 20 of 89

1.

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V.

Neurogenetics. 2007 Apr;8(2):103-9. Epub 2007 Jan 12.

PMID:
17219214
2.

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
3.

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.

4.

PINK1 mutations in sporadic early-onset Parkinson's disease.

Tan EK, Yew K, Chua E, Puvan K, Shen H, Lee E, Puong KY, Zhao Y, Pavanni R, Wong MC, Jamora D, de Silva D, Moe KT, Woon FP, Yuen Y, Tan L.

Mov Disord. 2006 Jun;21(6):789-93.

PMID:
16482571
5.

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St George-Hyslop P, Klein C, Lang AE.

Mov Disord. 2006 Jun;21(6):875-9.

PMID:
16547921
6.

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
7.

A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene.

McCormack BL, Chase CC Jr, Olson TA, Elsasser TH, Hammond AC, Welsh TH Jr, Jiang H, Randel RD, Okamura CA, Lucy MC.

Domest Anim Endocrinol. 2009 Aug;37(2):104-11. doi: 10.1016/j.domaniend.2009.04.001. Epub 2009 May 14.

PMID:
19524387
8.

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.

9.

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
10.

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

Hiller A, Hagenah JM, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C, Kress W, Münchau A, Klein C.

Mov Disord. 2007 Jan;22(1):145-7.

PMID:
17013904
11.

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
12.

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations.

Hagenah JM, Becker B, Brüggemann N, Djarmati A, Lohmann K, Sprenger A, Klein C, Seidel G.

J Neurol Neurosurg Psychiatry. 2008 Sep;79(9):1071-4. doi: 10.1136/jnnp.2007.142174. Epub 2008 May 9.

PMID:
18469032
13.

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
14.

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
15.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
16.

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB.

Arch Neurol. 2004 Dec;61(12):1898-904.

PMID:
15596610
17.

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.

Keyser RJ, Lesage S, Brice A, Carr J, Bardien S.

Biochem Biophys Res Commun. 2010 Jul 16;398(1):125-9. doi: 10.1016/j.bbrc.2010.06.049. Epub 2010 Jun 15.

PMID:
20558144
18.

Evaluation of PINK1 variants in Indian Parkinson's disease patients.

Biswas A, Sadhukhan T, Majumder S, Misra AK, Das SK, Variation Consortium IG, Ray K, Ray J.

Parkinsonism Relat Disord. 2010 Mar;16(3):167-71. doi: 10.1016/j.parkreldis.2009.10.005. Epub 2009 Nov 3.

PMID:
19889566
19.

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.

Cazeneuve C, Sân C, Ibrahim SA, Mukhtar MM, Kheir MM, Leguern E, Brice A, Salih MA.

Neurogenetics. 2009 Jul;10(3):265-70. doi: 10.1007/s10048-009-0174-4. Epub 2009 Feb 12.

PMID:
19214605
20.

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.

Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M, Chen F, Gu Y, Hasegawa H, Salehi-Rad S, Wang L, Rogaeva E, Fraser P, Robinson B, St George-Hyslop P, Tandon A.

J Biol Chem. 2005 Oct 7;280(40):34025-32. Epub 2005 Aug 2.

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