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Items: 1 to 20 of 214

1.

Association between early-onset Parkinson's disease and mutations in the parkin gene.

Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denèfle P, Wood NW, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group.; European Consortium on Genetic Susceptibility in Parkinson's Disease..

N Engl J Med. 2000 May 25;342(21):1560-7.

2.

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A.

Hum Mol Genet. 1999 Apr;8(4):567-74.

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.

Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.; European Consortium on Genetic Susceptibility in Parkinson's Disease..

Brain. 2003 Jun;126(Pt 6):1271-8.

PMID:
12764050
5.

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ.

Ann Neurol. 2000 Jul;48(1):65-71.

PMID:
10894217
6.

Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.

Ujike H, Yamamoto M, Kanzaki A, Okumura K, Takaki M, Kuroda S.

Mov Disord. 2001 Jan;16(1):111-3.

PMID:
11215568
7.

Parkin disease: a phenotypic study of a large case series.

Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N.

Brain. 2003 Jun;126(Pt 6):1279-92.

PMID:
12764051
8.

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network..

Mov Disord. 2005 Apr;20(4):424-31.

PMID:
15584030
9.

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

Muñoz E, Tolosa E, Pastor P, Martí MJ, Valldeoriola F, Campdelacreu J, Oliva R.

J Neurol Neurosurg Psychiatry. 2002 Nov;73(5):582-4.

10.

The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease.

Oliveri RL, Zappia M, Annesi G, Annesi F, Spadafora P, Pasqua AA, Tomaino C, Nicoletti G, Bosco D, Messina D, Logroscino G, Manobianca G, Epifanio A, Morgante L, Savettieri G, Quattrone A.

Neurol Sci. 2001 Feb;22(1):73-4.

PMID:
11487208
11.

Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China.

Peng R, Gou Y, Yuan Q, Li T, Latsoudis H, Yuan G, Luo D, Liu X, Collier DA.

Eur Neurol. 2003;49(2):85-9.

PMID:
12584415
12.

The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, Filla A, Meco G, Brice A; Italian PD Genetics Study Group, French PD Genetics Study Group, European Consortium on Genetic Susceptibility in PD..

Neurol Sci. 2001 Feb;22(1):51-2.

PMID:
11487197
13.

Parkin dosage mutations in patients with early-onset sporadic and familial Parkinson's disease in Chinese: an independent pathogenic role.

Wang C, Ma H, Feng X, Xie S, Chan P.

Brain Res. 2010 Oct 28;1358:30-8. doi: 10.1016/j.brainres.2010.08.060.

PMID:
20800584
14.

parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.

Poorkaj P, Nutt JG, James D, Gancher S, Bird TD, Steinbart E, Schellenberg GD, Payami H.

Am J Med Genet A. 2004 Aug 15;129A(1):44-50. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):56.

PMID:
15266615
15.

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH Jr, Scott BL, Goetz CG, Small GW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Winn MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM.

Ann Neurol. 2003 May;53(5):624-9.

PMID:
12730996
16.

[Etiology and pathogenesis of Parkinson's disease: from mitochondrial dysfunctions to familial Parkinson's disease].

Hattori N.

Rinsho Shinkeigaku. 2004 Apr-May;44(4-5):241-62. Review. Japanese.

PMID:
15287506
17.

Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication.

Krüger R, Vieira-Säcker AM, Kuhn W, Müller T, Woitalla D, Schöls L, Przuntek H, Epplen JT, Riess O.

J Neural Transm (Vienna). 1999;106(2):159-63.

PMID:
10226936
18.

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF.

Arch Neurol. 2006 Jun;63(6):826-32.

PMID:
16769863
19.

[Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].

Guo JF, Tang BS, Zhang YH, Liu HJ, Yan XX, Chen T, Shen L, Jiang H, Xia K, Cai F, Pan Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Feb;23(1):70-3. Chinese.

PMID:
16456791
20.

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

Ibáñez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group..

Brain. 2006 Mar;129(Pt 3):686-94.

PMID:
16401616
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