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Literature citations Results

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The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.

Bonifati V., Joosse M., Nicholl D.J., Vanacore N., Bennett P., Rizzu P., Fabbrini G., Marconi R., Colosimo C., Locuratolo N. et al.

Neurosci. Lett. 274:61-65(1999) · Mapped (11)

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.

Harhangi B.S., Farrer M.J., Lincoln S., Bonifati V., Meco G., De Michele G., Brice A., Durr A., Martinez M., Gasser T. et al.

Neurosci. Lett. 270:1-4(1999) · UniProtKB (1)

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.

Goldwurm S., Di Fonzo A., Simons E.J., Rohe C.F., Zini M., Canesi M., Tesei S., Zecchinelli A., Antonini A., Mariani C. et al.

J. Med. Genet. 42:E65-E65(2005) · UniProtKB (1) · Mapped (4)

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Wong T.H., Chiu W.Z., Breedveld G.J., Li K.W., Verkerk A.J., Hondius D., Hukema R.K., Seelaar H., Frick P., Severijnen L.A. et al.

Brain 137:1361-1373(2014) · Mapped (5)

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

International LRRK2 Consortium
Healy D.G., Falchi M., O'Sullivan S.S., Bonifati V., Durr A., Bressman S., Brice A., Aasly J., Zabetian C.P., Goldwurm S. et al.

Lancet Neurol 7:583-590(2008) · Mapped (5)

PARK6 is a common cause of familial parkinsonism.

European Consortium on Genetic Susceptibility in Parkinson's Disease
Valente E.M., Brancati F., Caputo V., Graham E.A., Davis M.B., Ferraris A., Breteler M.M., Gasser T., Bonifati V., Bentivoglio A.R. et al.

Neurol. Sci. 23 Suppl 2:S117-8(2002) · Mapped (1)

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects.

Periquet M., Luecking C.B., Vaughan J.R., Bonifati V., Duerr A., De Michele G., Horstink M., Farrer M., Illarioshkin S.N., Pollak P. et al.

Am. J. Hum. Genet. 68:617-626(2001) · UniProtKB (1)

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Italian Parkinson Genetics Network
Bertoli-Avella A.M., Giroud-Benitez J.L., Akyol A., Barbosa E., Schaap O., van der Linde H.C., Martignoni E., Lopiano L., Lamberti P., Fincati E. et al.

Mov. Disord. 20:424-431(2005) · UniProtKB (1) · Mapped (22)

Mutations in TMEM230 are not a common cause of Parkinson's disease.

Quadri M., Breedveld G.J., Chang H.C., Yeh T.H., Guedes L.C., Toni V., Fabrizio E., De Mari M., Thomas A., Tassorelli C. et al.

Mov. Disord. 32:302-304(2017) · Mapped (2)

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

Bonifati V., Rizzu P., van Baren M.J., Schaap O., Breedveld G.J., Krieger E., Dekker M.C.J., Squitieri F., Ibanez P., Joosse M. et al.

Science 299:256-259(2003) · UniProtKB (1) · Mapped (7)

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.

Quadri M., Mandemakers W., Grochowska M.M., Masius R., Geut H., Fabrizio E., Breedveld G.J., Kuipers D., Minneboo M., Vergouw L.J.M. et al.

Lancet Neurol 17:597-608(2018) · Mapped (4)

Lack of association between IL-1beta, TNF-alpha, and IL-10 gene polymorphisms and sporadic Parkinson's disease in an Italian cohort.

Pascale E., Passarelli E., Purcaro C., Vestri A.R., Fakeri A., Guglielmi R., Passarelli F., Meco G.

Acta Neurol. Scand. 124:176-181(2011) · Mapped (21)

How much phenotypic variation can be attributed to parkin genotype?

European Consortium on Genetic Susceptibility in Parkinson's Disease
Lohmann E., Periquet M., Bonifati V., Wood N.W., De Michele G., Bonnet A.M., Fraix V., Broussolle E., Horstink M.W., Vidailhet M. et al.

Ann. Neurol. 54:176-185(2003) · Mapped (23)

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.

Italian Parkinson Genetics Network
Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G.J., Simons E.J., Chien H.F., Ferreira J.J. et al.

Parkinsonism Relat. Disord. 15:703-705(2009) · UniProtKB (1) · Mapped (4)

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

The Italian Parkinson genetics network
Bonifati V., Rohe C.F., Breedveld G.J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D.J., Chien H.F. et al.

Neurology 65:87-95(2005) · UniProtKB (1)

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.

Bonifati V., Rizzu P., Squitieri F., Krieger E., Vanacore N., van Swieten J.C., Brice A., van Duijn C.M., Oostra B., Meco G. et al.

Neurol. Sci. 24:159-160(2003) · Mapped (2)

DAT gene polymorphisms (rs28363170, rs393795) and levodopa-induced dyskinesias in Parkinson's disease.

Purcaro C., Vanacore N., Moret F., Di Battista M.E., Rubino A., Pierandrei S., Lucarelli M., Meco G., Fattapposta F., Pascale E.

Neurosci. Lett. 690:83-88(2019) · Mapped (4)

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

Di Fonzo A., Tassorelli C., De Mari M., Chien H.F., Ferreira J., Rohe C.F., Riboldazzi G., Antonini A., Albani G., Mauro A. et al.

Eur. J. Hum. Genet. 14:322-331(2006) · UniProtKB (1) · Mapped (4)

Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes.

Di Battista M.E., Pascale E., Purcaro C., Passarelli F., Passarelli E., Guglielmi R., Vanacore N., Meco G.

J Neural Transm (Vienna) 121:353-356(2014) · Mapped (11)

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

Grunewald A., Breedveld G.J., Lohmann-Hedrich K., Rohe C.F., Konig I.R., Hagenah J., Vanacore N., Meco G., Antonini A., Goldwurm S. et al.

Neurogenetics 8:103-109(2007) · Mapped (1)

Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.

Bonifati V., Dekker M.C., Vanacore N., Fabbrini G., Squitieri F., Marconi R., Antonini A., Brustenghi P., Dalla Libera A., De Mari M. et al.

Neurol. Sci. 23 Suppl 2:S59-60(2002) · Mapped (26)

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Di Fonzo A., Chien H.F., Socal M., Giraudo S., Tassorelli C., Iliceto G., Fabbrini G., Marconi R., Fincati E., Abbruzzese G. et al.

Neurology 68:1557-1562(2007) · UniProtKB (1) · Mapped (3)

Association between early-onset Parkinson's disease and mutations in the parkin gene.

Luecking C.B., Duerr A., Bonifati V., Vaughan J.R., De Michele G., Gasser T., Harhangi B.S., Meco G., Denefle P., Wood N.W. et al.

N. Engl. J. Med. 342:1560-1567(2000) · UniProtKB (1) · Mapped (22)

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe.

Abbas N., Luecking C.B., Ricard S., Duerr A., Bonifati V., De Michele G., Bouley S., Vaughan J.R., Gasser T., Marconi R. et al.

Hum. Mol. Genet. 8:567-574(1999) · UniProtKB (1)

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

The Italian Parkinson genetics network
Di Fonzo A., Rohe C.F., Ferreira J., Chien H.F., Vacca L., Stocchi F., Guedes L., Fabrizio E., Manfredi M., Vanacore N. et al.

Lancet 365:412-415(2005) · UniProtKB (1) · Mapped (4)

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