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Items: 1 to 20 of 126

1.

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
2.

Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein.

Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T.

Am J Hum Genet. 1999 Aug;65(2):555-8. No abstract available.

3.

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.

Am J Hum Genet. 2000 Jun;66(6):1777-86. Epub 2000 May 4.

4.

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

Pineda-Trujillo N, Carvajal-Carmona LG, Buriticá O, Moreno S, Uribe C, Pineda D, Toro M, García F, Arias W, Bedoya G, Lopera F, Ruiz-Linares A.

Neurosci Lett. 2001 Feb 2;298(2):87-90.

PMID:
11163284
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.

Molecular findings in familial Parkinson disease in Spain.

Hoenicka J, Vidal L, Morales B, Ampuero I, Jiménez-Jiménez FJ, Berciano J, del Ser T, Jiménez A, Ruíz PG, de Yébenes JG.

Arch Neurol. 2002 Jun;59(6):966-70.

PMID:
12056932
7.

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.

8.

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
9.

Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.

Lücking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Dürr A, Brice A.

Arch Neurol. 2003 Sep;60(9):1253-6.

PMID:
12975291
10.

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.

Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Fink SJ, Myers RH, Herbert A; GenePD study.

Neurology. 2003 Dec 9;61(11):1557-61.

PMID:
14663042
11.

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.

12.

Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system.

Goldman JG, Goetz CG, Berry-Kravis E, Leurgans S, Zhou L.

Arch Neurol. 2004 Aug;61(8):1280-4.

PMID:
15313848
13.

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
14.

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O.

Hum Mutat. 2004 Oct;24(4):321-9.

PMID:
15365989
15.

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, Martí Carrera I, 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.

16.

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.

17.

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
18.

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.

Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L.

Arch Neurol. 2005 Jan;62(1):74-8.

PMID:
15642852
19.

A common LRRK2 mutation in idiopathic Parkinson's disease.

Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW.

Lancet. 2005 Jan 29-Feb 4;365(9457):415-6.

PMID:
15680457
20.

Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.

Beilina A, Van Der Brug M, Ahmad R, Kesavapany S, Miller DW, Petsko GA, Cookson MR.

Proc Natl Acad Sci U S A. 2005 Apr 19;102(16):5703-8. Epub 2005 Apr 11.

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