Crossref
journal-article
Oxford University Press (OUP)
Brain (286)
References
31
Referenced
136
-
Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol2003; 54: 283–6.
(
10.1002/ana.10675
) -
Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology2005; 64: 1958–60.
(
10.1212/01.WNL.0000163999.72864.FD
) -
Beilina A, Van Der Brug M, Ahmad R, Kesavapany S, Miller DW, Petsko GA, et al. Mutations in PTEN-induced putative kinase 1 associated with recessive Parkinsonism have differential effects on protein stability. Proc Natl Acad Sci USA2005; 102: 5703–8.
(
10.1073/pnas.0500617102
) -
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science2003; 299: 256–9.
(
10.1126/science.1077209
) -
Bonifati V, Rohe CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, et al. Early-onset Parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology2005; 65: 87–95.
(
10.1212/01.wnl.0000167546.39375.82
) -
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol2003; 54: 271–4.
(
10.1002/ana.10663
) -
Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, et al. Novel PINK1 mutations in early-onset Parkinsonism. Ann Neurol2004; 56: 424–7.
(
10.1002/ana.20251
) -
Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, et al. PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology2004; 63: 1486–8.
(
10.1212/01.WNL.0000142089.38301.8E
) -
Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology2002; 58: 1239–46.
(
10.1212/WNL.58.8.1239
) -
Hoenicka J, Vidal L, Morales B, Ampuero I, Jimenez-Jimenez FJ, Berciano J, et al. Molecular findings in familial Parkinson disease in Spain. Arch Neurol2002; 59: 966–70.
(
10.1001/archneur.59.6.966
) -
Ibanez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, et al. Screening for DJ-1 mutations in early onset autosomal recessive Parkinsonism. Neurology2003; 61: 1429–31.
(
10.1212/01.WNL.0000094121.48373.FD
) -
Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, et al. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol2002; 52: 849–53.
(
10.1002/ana.10417
) -
Kessler KR, Hamscho N, Morales B, Menzel C, Barrero F, Vives F, et al. Dopaminergic function in a family with the PARK6 form of autosomal recessive Parkinson's syndrome. J Neural Transm2005; 112: 1345–53.
(
10.1007/s00702-005-0281-9
) -
Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, et al. Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism. Nature1998; 392: 605–8.
(
10.1038/33416
) -
Klein C, Djarmati A, Hedrich K, Schafer N, Scaglione C, Marchese R, et al. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset Parkinsonism. Eur J Hum Genet2005; 13: 1086–93.
(
10.1038/sj.ejhg.5201455
) -
Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, et al. The ubiquitin pathway in Parkinson's disease. Nature1998; 395: 451–2.
(
10.1038/26652
) -
Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, et al. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset Parkinsonism. Neurology2005; 64: 1955–7.
(
10.1212/01.WNL.0000164009.36740.4E
) -
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, et al. How much phenotypic variation can be attributed to Parkin genotype? Ann Neurol2003; 54: 176–85.
(
10.1002/ana.10613
) -
Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med2000; 342: 1560–7.
(
10.1056/NEJM200005253422103
) -
Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, et al. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol2003; 53: 624–9.
(
10.1002/ana.10524
) -
Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron2004; 44: 595–600.
(
10.1016/j.neuron.2004.10.023
) -
Periquet M, Lucking C, Vaughan J, Bonifati V, Durr A, De Michele G, et al. Origin of the mutations in the Parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. Am J Hum Genet2001; 68: 617–26.
(
10.1086/318791
) -
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain2003; 126: 1271–8.
(
10.1093/brain/awg136
) -
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science1997; 276: 2045–7.
(
10.1126/science.276.5321.2045
) -
Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol2004; 61: 1898–904.
(
10.1001/archneur.61.12.1898
) -
Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V. Homozygous PINK1 C-terminus mutation causing early-onset Parkinsonism. Ann Neurol2004; 56: 427–31.
(
10.1002/ana.20247
) -
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, et al. Alpha-Synuclein locus triplication causes Parkinson's disease. Science2003; 302: 841.
(
10.1126/science.1090278
) -
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science2004; 304: 1158–60.
(
10.1126/science.1096284
) -
Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, et al. PINK1 mutations are associated with sporadic early-onset Parkinsonism. Ann Neurol2004; 56: 336–41.
(
10.1002/ana.20256
) -
West A, Periquet M, Lincoln S, Lucking CB, Nicholl D, Bonifati V, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet2002; 114: 584–91
(
10.1002/ajmg.10525
) -
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron2004; 44: 601–7.
(
10.1016/j.neuron.2004.11.005
)
Dates
Type | When |
---|---|
Created | 19 years, 7 months ago (Jan. 9, 2006, 8:12 p.m.) |
Deposited | 7 years, 10 months ago (Oct. 11, 2017, 8:28 p.m.) |
Indexed | 2 days, 8 hours ago (Sept. 2, 2025, 6:38 a.m.) |
Issued | 19 years, 7 months ago (Jan. 9, 2006) |
Published | 19 years, 7 months ago (Jan. 9, 2006) |
Published Online | 19 years, 7 months ago (Jan. 9, 2006) |
Published Print | 19 years, 6 months ago (March 1, 2006) |
@article{Ib_ez_2006, title={Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa}, volume={129}, ISSN={0006-8950}, url={http://dx.doi.org/10.1093/brain/awl005}, DOI={10.1093/brain/awl005}, number={3}, journal={Brain}, publisher={Oxford University Press (OUP)}, author={Ibáñez, Pablo and Lesage, Suzanne and Lohmann, Ebba and Thobois, Stéphane and Michele, Giuseppe De and Borg, Michel and Agid, Yves and Dürr, Alexandra and Brice, Alexis}, year={2006}, month=jan, pages={686–694} }