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المؤلفون: Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA
المساهمون: Pathology, Human genetics, Neurology, NCA - neurodegeneration, Clinical Genetics, Internal Medicine, Molecular Genetics, Obstetrics & Gynecology, Molecular and Cellular Neurobiology, Neuroscience Campus Amsterdam - Neurodegeneration, AIMMS, Netherlands Institute for Neuroscience (NIN), Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Cortelli P, Capellari S, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M
المصدر: Brain, 137, 1361-1373
Wong, T H, Chiu, W Z, Breedveld, G J, Li, K W, Verkerk, A J, Hondius, D C, Hukema, R K, Seelaar, H, Frick, P, Severijnen, L A, Lammers, G J, Lebbink, J, van Duinen, S G, Kamphorst, W, Rozemuller, A J M, Bakker, E B, Neumann, M, Willemsen, R, Bonifati, V, Smit, A B & van Swieten, J C 2014, ' PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology ', Brain, vol. 137, no. 5, pp. 1361-1373 . https://doi.org/10.1093/brain/awu067
Brain, 137(5), 1361-1373. Oxford University Press
Brain, 137, 1361-1373. Oxford University Press
Brain: a journal of neurology, 137(Pt 5), 1361-73. Oxford University Press
Brain 137(5), 1361-1373 (2014). doi:10.1093/brain/awu067مصطلحات موضوعية: Models, Molecular, Male, Electron Microscope Tomography, Pathology, neurofilament, metabolism [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], pathology [Frontal Lobe], 0302 clinical medicine, chemistry [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], Models, Missense mutation, metabolism [alpha-Synuclein], Intermediate filament, 0303 health sciences, Parkinsonism, pathology [Neurodegenerative Diseases], Neurodegenerative Diseases, Single Nucleotide, SDG 10 - Reduced Inequalities, Middle Aged, Frontal Lobe, 3. Good health, DNA-Binding Proteins, genetics [Cyclic AMP-Dependent Protein Kinase RIbeta Subunit], metabolism [Frontal Lobe], PRKAR1B, neurodegenerative disorders, genetics [Polymorphism, Single Nucleotide], alpha-Synuclein, Female, metabolism [DNA-Binding Proteins], Frontotemporal dementia, medicine.medical_specialty, Neurofilament, Protein subunit, metabolism [Amyloid beta-Peptides], Nerve Tissue Proteins, tau Proteins, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, medicine, Humans, ddc:610, Polymorphism, Protein kinase A, Hereditary Neurodegenerative Disorder, Genetic Association Studies, Aged, 030304 developmental biology, Family Health, intermediate filament, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, metabolism [Nerve Tissue Proteins], Amyloid beta-Peptides, protein kinase A Calpha, protein kinase A, Molecular, medicine.disease, Molecular biology, metabolism [tau Proteins], ultrastructure [Frontal Lobe], PRKAR1B protein, human, genetics [Neurodegenerative Diseases], Parkinson’s disease, Cyclic AMP-Dependent Protein Kinase RIbeta Subunit, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf; STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377f
https://doi.org/10.1093/brain/awu067 -
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المؤلفون: Araujo Fc, T. F. Araujo, Barbosa Er, Deguti Mm, Bem Rsd, Otto Pa, Cancado Elr
المصدر: La Prensa Medica. 102
مصطلحات موضوعية: Proband, education.field_of_study, business.industry, Incidence (epidemiology), Population, General Medicine, Consanguinity, Disease, Compound heterozygosity, Medicine, Allele, education, business, Allele frequency, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::37447f0a4dd34f2c4bf91fd7450259e6
https://doi.org/10.4172/lpma.1000226 -
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المؤلفون: Olgiati, Simone, Skorvanek, M, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido, Bonte, Ramon, Ozgur, Zeliha, Van den Hout - van Vroonhoven, Mirjam, Schoonderwoerd, Kees, Verheijen, Frans, van Ijcken, Wilfred, Chien, HF, Barbosa, ER, Chang, HC, Lai, SC, Yeh, TH, Lu, CS, Wu-Chou, YH, Kievit, Anneke, Han, V, Gdovinova, Z, Jech, R, Hofstra, Robert, Ruijter, George, Mandemakers, Wim, Bonifati, Vincenzo
المساهمون: Clinical Genetics, Cell biology
المصدر: Movement Disorders, 31(7), 1041-1048. John Wiley & Sons Inc.
مصطلحات موضوعية: Male, Adolescent, Dystonic Disorders, Humans, Enoyl-CoA Hydratase, Exercise, Pedigree
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المؤلفون: Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, The International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V.
المصدر: Human mutation (2013).
info:cnr-pdr/source/autori:Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; The International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V./titolo:Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism./doi:/rivista:Human mutation/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volumeURL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::28749f7e509534478de4bacbe87bb992
http://www.cnr.it/prodotto/i/242802 -
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المؤلفون: Chien, HF, Bonifati, Vincenzo, Barbosa, ER
المساهمون: Clinical Genetics
المصدر: Movement Disorders, 26(7), 1364-1365. John Wiley & Sons Inc.
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المؤلفون: Silveira-Moriyama, L, Munhoz, RP, Carvalho, MD, Raskin, S, Rogaeva, E, Aguiar, PD, Bressan, RA, Felicio, AC, Barsottini, OGP, Andrade, LAF, Chien, HF, Bonifati, Vincenzo, Barbosa, ER, Teive, HA, Lees, AJ
المساهمون: Clinical Genetics
المصدر: Movement Disorders, 25(16), 2879-2883. John Wiley & Sons Inc.
مصطلحات موضوعية: nervous system diseases
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7دورية أكاديمية
المصدر: Journal of the Brazilian Chemical Society. December 2020 31(12)
مصطلحات موضوعية: sewage sludge, chromium, extraction, reduction, inorganic chromium species
وصف الملف: text/html
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المؤلفون: Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff
المصدر: New England journal of medicine (Online) (2009).
info:cnr-pdr/source/autori:Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff/titolo:Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease./doi:/rivista:New England journal of medicine (Online)/anno:2009/pagina_da:/pagina_a:/intervallo_pagine:/volumeURL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::6a89dd2c305ef1ae4da7c180d5411a7b
https://publications.cnr.it/doc/50023 -
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المؤلفون: Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Italian Parkinson Genetics Network, Oostra, Ba, CollaboratorsBonifati V, Bonifati V., Giraudo, S, Tassorelli, C, Pacchetti, C, Nappi, G, Riboldazzi, G, Bono, GIORGIO GIOVANNI, Raudino, F, Manfredi, M, Bonizzato, A, Ferracci, C, Marchese, R, Montagna, P, Massaro, F, Minardi, C, Rasi, F, Vanacore, N, Berardelli, A, Vacca, L, De Pandis, F, Dell'Aquila, C, Iliceto, G, Lamberti, P, Trianni, G, Mauro, A, De Gaetano, A, Rizzo, M, Cossu, G.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3660::ab79dad84bcb136d454e581cf6bd90c6
http://hdl.handle.net/11383/1715871 -
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المؤلفون: Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Antonini, A, Oostra BA, Bonifati V.
المساهمون: Di Fonzo A., Chien H.F., Socal M., Giraudo S., Tassorelli C., Illiceto G., Fabbrini G., Marconi R., Fincati E., Abbruzzese G., Marini P., Squitieri F., Horstink M.W., Montagna P., Libera A.D., Stocchi F., Goldwurm S., Ferreira J.J., Meco G., Martignoni E., Lopiano L., Jardim L.B., OOstra B.A., Barbosa E.R., The Italian Parkinson Genetics Network, Bonifati V., Erasmus MC other, Clinical Genetics
المصدر: Neurology, 68(19), 1557-1562. Lippincott Williams & Wilkins
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, assessment, DNA Mutational Analysis, Mutation, Missense, patients, Central nervous system disease, Cohort Studies, Diagnosis, Differential, Degenerative disease, Parkinsonian Disorders, medicine, Prevalence, Dementia, Missense mutation, Humans, Genetic Predisposition to Disease, young onset Parkinson disease, Genetic Testing, Age of Onset, juvenile parkinsonism, Child, Genetics, business.industry, Parkinsonism, ATP13A2 gene mutations, Brain, Parkinson Disease, Middle Aged, medicine.disease, Young onset Parkinson disease, Proton-Translocating ATPases, Phenotype, Italy, Kufor Rakeb syndrome, Female, Neurology (clinical), business, Brazil
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32892b6ce802f30bac6081a3b6af30f4
http://hdl.handle.net/11585/45636