المؤلفون: Ottaviani, S., Tinazzi, M., Pasquin, I., Nothdurfter, W., Tomelleri, G., Fincati, E., Nordera, G., Moretto, G., Fiaschi, A., Smania, N., Giorgetti, P., Antonini, A.

المصدر: Neurological Sciences. December 2006 27(6):397-401

المؤلفون: Caraceni T., Musicco M., Gasparini M., Beghi E., Scigliano G., Carella F., Cossutta E., Chiaro C., Lovicu G., Giminiani G., Currado I., Solari, A., Nicolosi A., Agnoli A., Nappi G., Giuliani G., Angeleri A., Moro G., Franciosi A., De Mari M., Lamberti P., Huber R., Coppola G., Trianni G., Onofri M., Curatola L., Paolino E., Casetta I., Scaglioni P., Caffarra P., Marini P., Vanni P., Genitrini S., Sterzi R., Ferrarini M., Bassi P., Contri P., Comi G. C., Comola M., Campanella G., De Michele G., Pacchetti C., Martignoni E., Piccirilli M., Finali G., Massetani R., Galli R., Albanese A., Bentivoglio A., Scoppetta C., Peppe A., Stanzione P., Semprini R., Rossi F., Castellano A., Marconi R., Fincati E., Tomelleri G., Nardelli E., Nordera G., Iemolo F., D'Asta G., Lorizio A., Salsa F., Freschi R., Meregalli S., Bandinelli S., Gangemi S., Capus L., Piola P., Bino G., Achille P., Pederzoli M., Lenzi G. L., The Italian Parkinson Study Group

المصدر: The Italian Journal of Neurological Sciences. December 1992 13(9):735-739

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/awu067

مصطلحات 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

المؤلفون: 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., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M. W., Maat Kievit J. A., Sampaio C., Antonini A., Stocchi F., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra B.A., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE

المساهمون: 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., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M.W., Maat-Kievit J.A., Sampaio C., Antonini A., Stocchi F., Montagna P., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra BA., Italian Parkinson Genetics Network., Clinical Genetics

المصدر: Neurology, 65, 87-95
Neurology, 65, 1, pp. 87-95
Neurology, 65(1), 87-95. Lippincott Williams & Wilkins

مصطلحات موضوعية: Adult, Male, DNA, Complementary, Adolescent, Genotype, Parkinson's disease, assessment, DNA Mutational Analysis, Mutation, Missense, Biology, Early-onset parkinsonism, medicine.disease_cause, Genotype-phenotype distinction, Cognitive neurosciences [UMCN 3.2], Gene Frequency, PINK1 gene mutations, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Age of Onset, Child, Allele frequency, Genetics, Mutation, Parkinson'disease, Genome, Polymorphism, Genetic, Sequence Homology, Amino Acid, Parkinsonism, Parkinson Disease, Middle Aged, medicine.disease, Phenotype, Italy, Female, Neurology (clinical), Age of onset, Protein Kinases

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8a2828c43dbbcbdf7062ec15cf7e25
https://hdl.handle.net/2066/48716

المؤلفون: Fusina, S, Conte, S, Bertolasi, L, Fincati, E, Nardelli, E, Bongiovanni, L.G ^*

المصدر: In Clinical Neurophysiology 1999 110(2):358-366

المؤلفون: 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., Horstink M. W., 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 E. R., Meco G., Italian Parkinson Genetics Network, Oostra B. A, Bonifati V., MONTAGNA, PASQUALE

المساهمون: Erasmus MC other, Clinical Genetics, 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., Horstink M.W., 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 E.R., Meco G., Italian Parkinson Genetics Network, Montagna P., Oostra B.A, Bonifati V.

المصدر: Parkinsonism & Related Disorders, 15(9), 703-705. Elsevier

مصطلحات موضوعية: Proband, Adult, Parkinson's disease, PARK11, Locus (genetics), Disease, Biology, Genetics, GIGYF2, Mutation, medicine, Coding region, Humans, parkinson disease, Gene, Aged, Parkinson Disease, Middle Aged, medicine.disease, Pedigree, Neurology, Carrier protein, Neurology (clinical), Geriatrics and Gerontology, Carrier Proteins, genetics, gigyf2, mutation, park11, parkinson's disease

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17fdb464d00ace9f56097edf374375d9
https://pubmed.ncbi.nlm.nih.gov/19482505

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

المؤلفون: 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., Antonini A., Stocchi F., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C. M., Oostra B. A., Heutink P., Bonifati V., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE

المساهمون: Biological Psychology, Clinical Genetics, Epidemiology, 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., Antonini A., Stocchi F., Montagna P., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C.M., Oostra B.A., Heutink P., Bonifati V., Italian Parkinson Genetics Network.

المصدر: Movement Disorders, 20(4), 424-431. John Wiley and Sons Inc.
Movement Disorders, 20(4), 424-431. John Wiley & Sons Inc.
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, Antonini, A, Stocchi, F, Montagna, P, Squitieri, F, Marini, P, Abbruzzese, G, Fabbrini, G, Marconi, R, Dalla Libera, A, Trianni, G, Guidi, M, de Gaetano, A, Boff Maegawa, G, de Leo, A, Gallai, V, de Rosa, G, Vanacore, N, Meco, G, van Duijn, C M, Oostra, B A, Heutink, P & Bonifati, V 2005, ' Novel parkin mutations detected in patients with early-onset Parkinson's disease ', Movement Disorders, vol. 20, no. 4, pp. 424-431 . https://doi.org/10.1002/mds.20343

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Cost-Benefit Analysis, Ubiquitin-Protein Ligases, Protein Deglycase DJ-1, medicine.disease_cause, Polymerase Chain Reaction, Parkin, Exon, SDG 3 - Good Health and Well-being, medicine, Humans, Mass Screening, Point Mutation, Allele, Age of Onset, Mass screening, Aged, Gene Library, Genetics, Oncogene Proteins, Mutation, business.industry, Point mutation, Intracellular Signaling Peptides and Proteins, Parkinson Disease, Exons, Middle Aged, nervous system diseases, Phenotype, Neurology, Female, Neurology (clinical), Age of onset, business, Protein Kinases

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdbce8954b55300f3726497776ea5e1
https://pubmed.ncbi.nlm.nih.gov/15584030

المؤلفون: Fenzi F., Bongiovanni G., Fincati E., Pampanin M., Tomelleri G., Rizzuto N.

المصدر: The Italian Journal of Neurological Sciences. October 1988 9(5):505-508

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