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Items: 1 to 20 of 36

1.

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T.

Neuron. 2004 Nov 18;44(4):601-7.

2.

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB.

Neuron. 2004 Nov 18;44(4):595-600.

3.

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, Farrer MJ.

Ann Neurol. 2004 Oct;56(4):591-5.

PMID:
15455394
4.

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A.

Lancet. 2004 Sep 25-Oct 1;364(9440):1167-9.

PMID:
15451224
5.

Regulation of protein kinases; controlling activity through activation segment conformation.

Nolen B, Taylor S, Ghosh G.

Mol Cell. 2004 Sep 10;15(5):661-75. Review.

6.

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR.

Ann Neurol. 2004 Sep;56(3):336-41.

PMID:
15349860
7.

No evidence for heritability of Parkinson disease in Swedish twins.

Wirdefeldt K, Gatz M, Schalling M, Pedersen NL.

Neurology. 2004 Jul 27;63(2):305-11.

PMID:
15277625
8.

Genetic clues to the pathogenesis of Parkinson's disease.

Vila M, Przedborski S.

Nat Med. 2004 Jul;10 Suppl:S58-62. Review.

PMID:
15272270
9.

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.

Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW.

Neurology. 2004 May 11;62(9):1619-22.

PMID:
15136696
10.

Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW.

Science. 2004 May 21;304(5674):1158-60. Epub 2004 Apr 15.

11.

Parkin genetics: one model for Parkinson's disease.

Mata IF, Lockhart PJ, Farrer MJ.

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R127-33. Epub 2004 Feb 19. Review.

PMID:
14976155
12.

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications.

Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M, Maraganore D, Gwinn-Hardy K, Wszolek Z, Dickson D, Langston JW.

Ann Neurol. 2004 Feb;55(2):174-9.

PMID:
14755720
13.

The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atarés B, Llorens V, Gomez Tortosa E, del Ser T, Muñoz DG, de Yebenes JG.

Ann Neurol. 2004 Feb;55(2):164-73.

PMID:
14755719
14.

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.

Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T.

Am J Hum Genet. 2004 Jan;74(1):11-9. Epub 2003 Dec 19. Erratum in: Am J Hum Genet. 2004 Sep;75(3):534.

15.

Roc, a Ras/GTPase domain in complex proteins.

Bosgraaf L, Van Haastert PJ.

Biochim Biophys Acta. 2003 Dec 7;1643(1-3):5-10. Review.

16.

alpha-Synuclein locus triplication causes Parkinson's disease.

Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K.

Science. 2003 Oct 31;302(5646):841. No abstract available.

17.

The role of pathogenic DJ-1 mutations in Parkinson's disease.

Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW.

Ann Neurol. 2003 Sep;54(3):283-6.

PMID:
12953260
18.

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P.

Science. 2003 Jan 10;299(5604):256-9. Epub 2002 Nov 21.

19.

Mutations of the BRAF gene in human cancer.

Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA.

Nature. 2002 Jun 27;417(6892):949-54. Epub 2002 Jun 9.

PMID:
12068308
20.

Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals.

Zaykin DV, Westfall PH, Young SS, Karnoub MA, Wagner MJ, Ehm MG.

Hum Hered. 2002;53(2):79-91.

PMID:
12037407

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