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Items: 1 to 20 of 113

1.

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C.

Ann Neurol. 2002 May;51(5):621-5.

PMID:
12112109
2.

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
3.

Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations.

Lücking CB, Bonifati V, Periquet M, Vanacore N, Brice A, Meco G.

Neurology. 2001 Sep 11;57(5):924-7.

PMID:
11552035
4.

The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations.

Portman AT, Giladi N, Leenders KL, Maguire P, Veenma-van der Duin L, Swart J, Pruim J, Simon ES, Hassin-Baer S, Korczyn AD.

Neurology. 2001 Jun 26;56(12):1759-62.

PMID:
11425950
5.

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C.

Hum Mol Genet. 2001 Aug 1;10(16):1649-56.

PMID:
11487568
6.

Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism.

Poorkaj P, Moses L, Montimurro JS, Nutt JG, Schellenberg GD, Payami H.

BMC Neurol. 2005 Feb 22;5(1):4.

7.

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

Mata IF, Alvarez V, Coto E, Blazquez M, Guisasola LM, Salvador C, Kachergus JM, Lincoln SJ, Farrer M.

Neurosci Lett. 2005 Jun 3;380(3):257-9. Epub 2005 Feb 8.

PMID:
15862897
8.

Homozygous exon 4 deletion in parkin gene in a Korean family with autosomal recessive early onset parkinsonism.

Kim JS, Lee KS, Kim YI, Lee KH, Kim HT.

Yonsei Med J. 2003 Apr 30;44(2):336-9.

9.

New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.

Terreni L, Calabrese E, Calella AM, Forloni G, Mariani C.

Neurology. 2001 Feb 27;56(4):463-6.

PMID:
11222788
10.

Parkin mutations and early onset parkinsonism.

Morrison KE.

Brain. 2003 Jun;126(Pt 6):1250-1. No abstract available.

PMID:
12764048
11.

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.

12.

Lewy bodies and parkinsonism in families with parkin mutations.

Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW.

Ann Neurol. 2001 Sep;50(3):293-300.

PMID:
11558785
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. Epub 2010 Aug 26.

PMID:
20800584
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
15.

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
16.

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.

17.

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
18.

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study.

Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz CG, Klein C.

Neurology. 2002 Mar 12;58(5):808-10.

PMID:
11889248
19.

Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism.

Kuroda Y, Mitsui T, Akaike M, Azuma H, Matsumoto T.

J Neurol Neurosurg Psychiatry. 2001 Aug;71(2):231-4.

20.

Parkin mutations are rare in patients with young-onset parkinsonism in a US population.

Chen R, Gosavi NS, Langston JW, Chan P.

Parkinsonism Relat Disord. 2003 Jun;9(5):309-12.

PMID:
12781599

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