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Literature citations Results

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Marongiu R., Brancati F., Antonini A., Ialongo T., Ceccarini C., Scarciolla O., Capalbo A., Benti R., Pezzoli G., Dallapiccola B. et al.

Hum. Mutat. 28:98-98(2007) · Mapped (1)

VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome.

Borroni B., Del Bo R., Goldwurm S., Archetti S., Bonvicini C., Agosti C., Bigni B., Papetti A., Ghezzi S., Sacilotto G. et al.

J. Alzheimers Dis. 21:87-94(2010) · Mapped (11)

Tryptophan hydroxylase type 2 variants modulate severity and outcome of addictive behaviors in Parkinson's disease.

Cilia R., Benfante R., Asselta R., Marabini L., Cereda E., Siri C., Pezzoli G., Goldwurm S., Fornasari D.

Parkinsonism Relat. Disord. 29:96-103(2016) · Mapped (14)

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Perez Carrion M., Pischedda F., Biosa A., Russo I., Straniero L., Civiero L., Guida M., Gloeckner C.J., Ticozzi N., Tiloca C. et al.

Front Mol Neurosci 11:64-64(2018) · Mapped (8)

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

Latourelle J.C., Sun M., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Watts R.L. et al.

BMC Med 6:32-32(2008) · Mapped (5)

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Straniero L., Rimoldi V., Samarani M., Goldwurm S., Di Fonzo A., Kruger R., Deleidi M., Aureli M., Solda G., Duga S. et al.

Sci Rep 7:12702-12702(2017) · Mapped (5)

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)

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease.

Guella I., Solda G., Cilia R., Pezzoli G., Asselta R., Duga S., Goldwurm S.

Mov. Disord. 27:800-801(2012) · Mapped (3)

Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation.

Isaias I.U., Benti R., Goldwurm S., Zini M., Cilia R., Gerundini P., Di Fonzo A., Bonifati V., Pezzoli G., Antonini A.

Mov. Disord. 21:1144-1147(2006) · Mapped (9)

SNCA variants are associated with increased risk for multiple system atrophy.

Scholz S.W., Houlden H., Schulte C., Sharma M., Li A., Berg D., Melchers A., Paudel R., Gibbs J.R., Simon-Sanchez J. et al.

Ann. Neurol. 65:610-614(2009) · Mapped (152)

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Trotta L., Guella I., Solda G., Sironi F., Tesei S., Canesi M., Pezzoli G., Goldwurm S., Duga S., Asselta R.

Parkinsonism Relat. Disord. 18:257-262(2012) · Mapped (19)

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.

Elstner M., Morris C.M., Heim K., Lichtner P., Bender A., Mehta D., Schulte C., Sharma M., Hudson G., Goldwurm S. et al.

Ann. Neurol. 66:792-798(2009) · Mapped (11)

Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.

Castiglioni E., Finazzi D., Goldwurm S., Levi S., Pezzoli G., Garavaglia B., Nardocci N., Malcovati L., Porta M.G., Galli A. et al.

Genet Test Mol Biomarkers 14:793-796(2010) · Mapped (1)

Screening LRRK2 gene mutations in patients with Parkinson's disease in Ghana.

Cilia R., Sironi F., Akpalu A., Cham M., Sarfo F.S., Brambilla T., Bonetti A., Amboni M., Goldwurm S., Pezzoli G.

J. Neurol. 259:569-570(2012) · Mapped (5)

Screening for the presence of FMR1 premutation alleles in women with parkinsonism.

Cilia R., Kraff J., Canesi M., Pezzoli G., Goldwurm S., Amiri K., Tang H.T., Pan R., Hagerman P.J., Tassone F.

Arch. Neurol. 66:244-249(2009) · Mapped (13)

Screen for excess FMR1 premutation alleles among males with parkinsonism.

Kraff J., Tang H.T., Cilia R., Canesi M., Pezzoli G., Goldwurm S., Hagerman P.J., Tassone F.

Arch. Neurol. 64:1002-1006(2007) · Mapped (13)

Replication of association between ELAVL4 and Parkinson disease: the GenePD study.

DeStefano A.L., Latourelle J., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Watts R. et al.

Hum. Genet. 124:95-99(2008) · Mapped (8)

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)

Parkin analysis in early onset Parkinson's disease.

Sironi F., Primignani P., Zini M., Tunesi S., Ruffmann C., Ricca S., Brambilla T., Antonini A., Tesei S., Canesi M. et al.

Parkinsonism Relat. Disord. 14:326-333(2008) · Mapped (23)

Parkin absence accelerates microtubule aging in dopaminergic neurons.

Cartelli D., Amadeo A., Calogero A.M., Casagrande F.V.M., De Gregorio C., Gioria M., Kuzumaki N., Costa I., Sassone J., Ciammola A. et al.

Neurobiol. Aging 61:66-74(2018) · Mapped (16)

Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.

Cilia R., Asselta R., Cereda E., Benfante R., Barbella G., Vallauri D., Marabini L., Fornasari D., Goldwurm S., Pezzoli G.

J. Neurol. Neurosurg. Psychiatry 89:323-324(2018) · Mapped (3)

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Cilia R., Reale C., Castagna A., Nasca A., Muzi-Falconi M., Barzaghi C., Marzegan A., Granata M., Marotta G., Sacilotto G. et al.

Neurology 83:1155-1162(2014) · Mapped (9)

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Lautier C., Goldwurm S., Duerr A., Giovannone B., Tsiaras W.G., Pezzoli G., Brice A., Smith R.J.

Am. J. Hum. Genet. 82:822-833(2008) · UniProtKB (1) · Mapped (4)

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Guella I., Pistocchi A., Asselta R., Rimoldi V., Ghilardi A., Sironi F., Trotta L., Primignani P., Zini M., Zecchinelli A. et al.

Neurobiol. Aging 32:1994-2005(2011) · UniProtKB (2) · Mapped (4)

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

PD GWAS Consortium
Pankratz N., Beecham G.W., DeStefano A.L., Dawson T.M., Doheny K.F., Factor S.A., Hamza T.H., Hung A.Y., Hyman B.T., Ivinson A.J. et al.

Ann. Neurol. 71:370-384(2012) · Mapped (1)

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