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Items: 1 to 20 of 76

1.

PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations.

Hatano Y, Sato K, Elibol B, Yoshino H, Yamamura Y, Bonifati V, Shinotoh H, Asahina M, Kobayashi S, Ng AR, Rosales RL, Hassin-Baer S, Shinar Y, Lu CS, Chang HC, Wu-Chou YH, Ataç FB, Kobayashi T, Toda T, Mizuno Y, Hattori N.

Neurology. 2004 Oct 26;63(8):1482-5.

PMID:
15505170
2.
3.

Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, Hattori N.

Neurosci Lett. 2009 May 22;455(3):159-61. doi: 10.1016/j.neulet.2009.03.033. Epub 2009 Mar 16.

PMID:
19429112
4.

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.

Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW.

Am J Hum Genet. 2001 Apr;68(4):895-900. Epub 2001 Mar 7.

5.

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
6.

Novel PINK1 mutations in early-onset parkinsonism.

Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N.

Ann Neurol. 2004 Sep;56(3):424-7. Erratum in: Ann Neurol. 2004 Oct;56(4):603.

PMID:
15349870
7.

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
8.

Dominant negative ATM mutations in breast cancer families.

Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dörk T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK.

J Natl Cancer Inst. 2002 Feb 6;94(3):205-15. Erratum in: J Natl Cancer Inst 2002 Jun 19;94(12):952.

PMID:
11830610
9.

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
10.

Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.

Abahuni N, Gispert S, Bauer P, Riess O, Krüger R, Becker T, Auburger G.

Neurosci Lett. 2007 Mar 6;414(2):126-9. Epub 2007 Jan 11.

PMID:
17267121
11.

Novel SACS mutation in a Belgian family with sacsin-related ataxia.

Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y.

J Neurol Sci. 2008 Jan 15;264(1-2):73-6. Epub 2007 Aug 22.

PMID:
17716690
12.

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.

Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schäffer AA, Yamamura Y, Nakamura S, Kuzuhara S, Tsuji S, Mizuno Y.

Am J Hum Genet. 1997 Mar;60(3):588-96.

13.

PARK6-linked parkinsonism occurs in several European families.

Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease.

Ann Neurol. 2002 Jan;51(1):14-8.

PMID:
11782979
14.

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
15.

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.

Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerrière A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A; French Research Network on FTD/FTD-MND.

Neurology. 2009 May 12;72(19):1669-76. doi: 10.1212/WNL.0b013e3181a55f1c.

PMID:
19433740
16.

[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].

Saito M, Matsumine H, Tanaka H, Ishikawa A, Matsubayashi S, Hattori Y, Mizuno Y, Tsuji S.

Nihon Rinsho. 1997 Jan;55(1):83-8. Review. Japanese.

PMID:
9014427
17.

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium.

Saito M, Matsumine H, Tanaka H, Ishikawa A, Shimoda-Matsubayashi S, Schäffer AA, Mizuno Y, Tsuji S.

J Hum Genet. 1998;43(1):22-31.

PMID:
9609994
18.

Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23.

Xu J, Zheng SL, Hawkins GA, Faith DA, Kelly B, Isaacs SD, Wiley KE, Chang B, Ewing CM, Bujnovszky P, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB.

Am J Hum Genet. 2001 Aug;69(2):341-50. Epub 2001 Jul 6.

19.

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

Masmoudi S, Charfedine I, Rebeh IB, Rebai A, Tlili A, Ghorbel AM, Belguith H, Petit C, Drira M, Ayadi H.

Clin Genet. 2004 Oct;66(4):358-64.

PMID:
15355440
20.

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

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