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Results: 1 to 20 of 249

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.

PMID:
10824074
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
10072423
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
12397156
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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. Epub 2010 Aug 26.

PMID:
20800584
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
13.

[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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations.

Wiley J, Lynch T, Lincoln S, Skipper L, Hulihan M, Gosal D, Bisceglio G, Kachergus J, Hardy J, Farrer MJ.

Mov Disord. 2004 Jun;19(6):677-81.

PMID:
15197707
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
Free Article
17.

How much phenotypic variation can be attributed to parkin genotype?

Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease.

Ann Neurol. 2003 Aug;54(2):176-85.

PMID:
12891670
[PubMed - indexed for MEDLINE]
18.

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.

Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C.

Neurology. 2002 Apr 23;58(8):1239-46.

PMID:
11971093
[PubMed - indexed for MEDLINE]
19.

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.

Wu RM, Bounds R, Lincoln S, Hulihan M, Lin CH, Hwu WL, Chen J, Gwinn-Hardy K, Farrer M.

Arch Neurol. 2005 Jan;62(1):82-7.

PMID:
15642853
[PubMed - indexed for MEDLINE]
20.

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. 1999;106(2):159-63.

PMID:
10226936
[PubMed - indexed for MEDLINE]

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