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Literature citations Results

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.

Bem R.S., Raskin S., Muzzillo D.A., Deguti M.M., Cancado E.L., Araujo T.F., Nakhle M.C., Barbosa E.R., Munhoz R.P., Teive H.A.

Arq Neuropsiquiatr 71:503-507(2013) · Mapped (52)

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Deguti M.M., Genschel J., Cancado E.L.R., Barbosa E.R., Bochow B., Mucenic M., Porta G., Lochs H., Carrilho F.J., Schmidt H.H.-J.

Hum. Mutat. 23:398-398(2004) · UniProtKB (1)

Uncovered Diversity of a Predominantly Andean Butterfly Clade in the Brazilian Atlantic Forest: a Revision of the Genus Praepedaliodes Forster (Lepidoptera: Nymphalidae, Satyrinae, Satyrini).

Pyrcz T.W., Freitas A.V.L., Boyer P., Dias F.M.S., Dolibaina D.R., Barbosa E.P., Magaldi L.M., Mielke O.H.H., Casagrande M.M., Lorenc-Brudecka J.

Neotrop. Entomol. 47:211-255(2018) · UniProtKB (58)

The prevalence of PRKRA mutations in idiopathic dystonia.

Dos Santos C.O., da Silva-Junior F.P., Puga R.D., Barbosa E.R., Azevedo Silva S.M.C., Borges V., Limongi J.C.P., Rocha M.S.G., Ferraz H.B., de Carvalho Aguiar P.

Parkinsonism Relat. Disord. 48:93-96(2018) · Mapped (3)

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)

TCDD induces UbcH7 expression and synphilin-1 protein degradation in the mouse ventral midbrain.

Gonzalez-Barbosa E., Mejia-Garcia A., Bautista E., Gonzalez F.J., Segovia J., Elizondo G.

J. Biochem. Mol. Toxicol. 31:0-0(2017) · Mapped (12)

SNPs within the GH-signaling pathway are associated with the early IGF1 response to GH replacement therapy in GHD adults.

Glad C.A., Barbosa E.J., Filipsson Nystrom H., Carlsson L.M., Nilsson S., Nilsson A.G., Svensson P.A., Johannsson G.

Eur. J. Endocrinol. 170:101-107(2014) · Mapped (6)

Skin secretion peptides: the molecular facet of the deimatic behavior of the four-eyed frog, Physalaemus nattereri (Anura, Leptodactylidae).

Barbosa E.A., Iembo T., Martins G.R., Silva L.P., Prates M.V., Andrade A.C., Bloch C. Jr.

Rapid Commun. Mass Spectrom. 29:2061-2068(2015) · UniProtKB (7)

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)

Potential Antileukemia Effect and Structural Analyses of SRPK Inhibition by N-(2-(Piperidin-1-yl)-5-(Trifluoromethyl)Phenyl)Isonicotinamide (SRPIN340).

Siqueira R.P., Barbosa E.d.e. A., Poleto M.D., Righetto G.L., Seraphim T.V., Salgado R.L., Ferreira J.G., Barros M.V., de Oliveira L.L., Laranjeira A.B. et al.

PLoS ONE 10:e0134882-e0134882(2015) · Mapped (6)

Post-secretory events alter the peptide content of the skin secretion of Hypsiboas raniceps.

Magalhaes B.S., Melo J.A.T., Leite J.R.S.A., Silva L.P., Prates M.V., Vinecky F., Barbosa E.A., Verly R.M., Mehta A., Nicoli J.R. et al.

Biochem. Biophys. Res. Commun. 377:1057-1061(2008) · UniProtKB (9)

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)

Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

Arruda W.O., Munhoz R.P., de Bem R.S., Deguti M.M., Barbosa E.R., Zavala J.A., Teive H.A.

J. Clin. Neurosci. 21:335-336(2014) · UniProtKB (1)

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Olgiati S., Skorvanek M., Quadri M., Minneboo M., Graafland J., Breedveld G.J., Bonte R., Ozgur Z., van den Hout M.C., Schoonderwoerd K. et al.

Mov. Disord. 31:1041-1048(2016) · Mapped (2)

Overexpression of the activated form of the AtAREB1 gene (AtAREB1DeltaQT) improves soybean responses to water deficit.

Leite J.P., Barbosa E.G., Marin S.R., Marinho J.P., Carvalho J.F., Pagliarini R.F., Cruz A.S., Oliveira M.C., Farias J.R., Neumaier N. et al.

Genet. Mol. Res. 13:6272-6286(2014) · Mapped (1)

Olfactory heterogeneity in LRRK2 related Parkinsonism.

Silveira-Moriyama L., Munhoz R.P., de J Carvalho M., Raskin S., Rogaeva E., de C Aguiar P., Bressan R.A., Felicio A.C., Barsottini O.G., Andrade L.A. et al.

Mov. Disord. 25:2879-2883(2010) · Mapped (5)

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

da Silva-Junior F.P., dos Santos C.O., Silva S.M., Barbosa E.R., Borges V., Ferraz H.B., Limongi J.C., Rocha M.S., de Carvalho Aguiar P.

J. Neurol. Sci. 344:190-192(2014) · Mapped (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)

Novel dermaseptins from Phyllomedusa hypochondrialis (Amphibia).

Brand G.D., Leite J.R.S.A., de Sa Mandel S.M., Mesquita D.A., Silva L.P., Prates M.V., Barbosa E.A., Vinecky F., Martins G.R., Galasso J.H. et al.

Biochem. Biophys. Res. Commun. 347:739-746(2006) · UniProtKB (7)

Neurological manifestations and ATP7B mutations in Wilson's disease.

Machado A.A., Deguti M.M., Genschel J., Cancado E.L., Bochow B., Schmidt H., Barbosa E.R.

Parkinsonism Relat. Disord. 14:246-249(2008) · Mapped (52)

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)

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Quadri M., Fang M., Picillo M., Olgiati S., Breedveld G.J., Graafland J., Wu B., Xu F., Erro R., Amboni M. et al.

Hum. Mutat. 34:1208-1215(2013) · UniProtKB (1) · Mapped (18)

Multiple horizontally acquired genes from fungal and prokaryotic donors encode cellulolytic enzymes in the bdelloid rotifer Adineta ricciae.

Szydlowski L., Boschetti C., Crisp A., Barbosa E.G., Tunnacliffe A.

Gene 566:125-137(2015) · UniProtKB (8)

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., Berg D., Bras J., Brice A. et al.

N. Engl. J. Med. 361:1651-1661(2009) · UniProtKB (1)

Molecular cloning and sequencing of human palmitoyl-CoA ligase and its tissue specific expression.

Ghosh B., Barbosa E., Singh I.

Mol. Cell. Biochem. 151:77-81(1995) · UniProtKB (1)

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