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Literature citations Results

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 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)

Peripheral blood mononuclear cells from mild cognitive impairment patients show deregulation of Bax and Sod1 mRNAs.

Gatta L., Cardinale A., Wannenes F., Consoli C., Armani A., Molinari F., Mammi C., Stocchi F., Torti M., Rosano G.M. et al.

Neurosci. Lett. 453:36-40(2009) · Mapped (11)

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)

Metabotropic glutamate receptors regulate differentiation of embryonic stem cells into GABAergic neurons.

Sarichelou I., Cappuccio I., Ferranti F., Mosillo P., Ciceroni C., Sale P., Stocchi F., Battaglia G., Nicoletti F., Melchiorri D.

Cell Death Differ. 15:700-707(2008) · Mapped (11)

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)

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)

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)

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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