المؤلفون: Tinazzi, M, Del Vesco, C, Fincati, E, Ottaviani, S, Smania, N, Moretto, G, Fiaschi, A, Martino, D, Defazio, G

مصطلحات موضوعية: Papers

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/77/7/822Test; http://dx.doi.org/10.1136/jnnp.2005.079053Test

الإتاحة: https://doi.org/10.1136/jnnp.2005.079053Test
http://jnnp.bmj.com/cgi/content/short/77/7/822Test

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/awu067Test
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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377fTest
https://doi.org/10.1093/brain/awu067Test

المؤلفون: Macerollo A, Defazio G, Berardelli A, Fabbrini G, Martino D, Fincati E, Fiaschi A, Moretto G, Abbruzzese G, Marchese R, Bonuccelli U, Del Dotto P, Barone P, De Vivo E, Albanese A, Antonini A, Canesi M., Zibetti M, Nappi G, Martignoni E11, Lamberti P, Tinazzi M., LOPIANO, Leonardo

المساهمون: Macerollo A, Defazio G, Berardelli A, Fabbrini G, Martino D, Fincati E, Fiaschi A, Moretto G, Abbruzzese G, Marchese R, Bonuccelli U, Del Dotto P, Barone P, De Vivo E, Albanese A, Antonini A, Canesi M, Lopiano L, Zibetti M, Nappi G, Martignoni E11, Lamberti P, Tinazzi M

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000294806601246; 15th Congress of the European Federation of Neurological Societies; volume:18 suppl 2; firstpage:485; lastpage:485; numberofpages:1; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/2318/119157Test

الإتاحة: http://hdl.handle.net/2318/119157Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8a2828c43dbbcbdf7062ec15cf7e25Test
https://hdl.handle.net/2066/48716Test

المؤلفون: Wong, T. H., Chiu, W. Z., Breedveld, G. J., Li, K. W., Verkerk, A. J. M., Hondius, D., Hukema, R. K., Seelaar, H., Frick, P., Severijnen, L. A., Lammers, G. J., Lebbink, J. H. G., Van Duinen, S. G., Kamphorst, W., Rozemuller, A. J., Netherlands, Brain Bank, Bakker, E. B., The International Parkinsonism Genetics Network: Neumann, M., Willemsen, R., Bonifati, V., Smit, A. B., Van Swieten, J., Ferreira, J., Correia Guedes, L., Chien, H. F., Barbosa, E. R., Merola, A., Zibetti, M., Lopiano, L., Tassorelli, C., Pacchetti, C., Nappi, G., Riboldazzi, 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., BONO, GIORGIO GIOVANNI

المساهمون: Wong, T. H., Chiu, W. Z., Breedveld, G. J., Li, K. W., Verkerk, A. J. M., Hondius, D., Hukema, R. K., Seelaar, H., Frick, P., Severijnen, L. A., Lammers, G. J., Lebbink, J. H. G., Van Duinen, S. G., Kamphorst, W., Rozemuller, A. J., Netherlands, Brain Bank, Bakker, E. B., The International Parkinsonism Genetics Network: Neumann, M., Willemsen, R., Bonifati, V., Smit, A. B., Van Swieten, J., Ferreira, J., Correia Guedes, L., Chien, H. F., Barbosa, E. R., Merola, A., Zibetti, M., Lopiano, L., Tassorelli, C., Pacchetti, C., Nappi, G., Riboldazzi, G., Bono, GIORGIO GIOVANNI, 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.

مصطلحات موضوعية: Intermediate filament, neurodegenerative disorder, neurofilament, PRKAR1B, protein kinase A

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24722252; info:eu-repo/semantics/altIdentifier/wos/WOS:000336252800016; volume:137; issue:5; firstpage:1361; lastpage:1373; numberofpages:13; journal:BRAIN; http://hdl.handle.net/11383/1914325Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899803622

الإتاحة: https://doi.org/10.1093/brain/awu067Test
http://hdl.handle.net/11383/1914325Test

المؤلفون: Rietveld, A., Massaro, F., Federico, A., Taglia, I., Battisti, C., Marconi, R., Onofrj, M., Thomas, A., Vanacore, N., Meco, G., Fabbrini, G., Fabrizio, E., Berardelli, A., Stocchi, F., Vacca, L., Picillo, M., De Rosa, A., Criscuolo, C., De Michele, G., Filla, A., Barone, P., De Mari, M., Dell'Aquila, C., Iliceto, G., Lamberti, P., Toni, V., Trianni, G., Gagliardi, M., Annesi, G., Quattrone, A., Cossu, G., Melis, M., Tufekcioglu, Z., Bilgic, B., Hanagasi, Haşmet Ayhan, Saddi, V., Lopiano, L., Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P. M. A., Saute, Jonas A., Chien, Hsin Fen, Bouwkamp, Christian G., Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J., Zhang, Jianguo, Verheijen, Frans W., Boon, Agnita J. W., Kievit, Anneke J. A., Jardim, Laura Bannach, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R. M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo, van de Warrenburg, B., Delnooz, C., Bloem, B., Ferreira, J., Correia Guedes, L., Tolosa, E., Kurtiz, M. M., Obeso, J., Emre, M., Elibol, B., Lu, Chin-Song, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Atadzhanov, M., Kelly, P., Tassorelli, C., Pacchetti, C., Nappi, G., Riboldazzi, G., Bono, G., Comi, C., Padovani, A., Borroni, B., Raudino, F., Fincati, E., Bertolasi, L., Tinazzi, M., Bonizzato, A., Ferracci, C., Libera, A. Dalla, Marini, P.

المساهمون: S Francesco Hosp ,, 230316

مصطلحات موضوعية: Dahili Tıp Bilimleri, Nöroloji, Yaşam Bilimleri, Temel Bilimler, NEUROSCIENCES, Sinirbilim ve Davranış, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Klinik Tıp (MED), Klinik Tıp, KLİNİK NEUROLOJİ

العلاقة: ANNALS OF NEUROLOGY; Olgiati S., Quadri M., Fang M., Rood J. P. M. A. , Saute J. A. , Chien H. F. , Bouwkamp C. G. , Graafland J., Minneboo M., Breedveld G. J. , et al., "DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease", ANNALS OF NEUROLOGY, cilt.79, ss.244-256, 2016; vv_1032021; av_ee573f83-06c2-4220-bd5b-f0f28ec7e6f5; http://hdl.handle.net/20.500.12627/156462Test; https://doi.org/10.1002/ana.24553Test; 79; 244; 256

الإتاحة: https://doi.org/20.500.12627/156462Test
https://doi.org/10.1002/ana.24553Test
https://hdl.handle.net/20.500.12627/156462Test

المؤلفون: Wang, Jun, Tolosa, E., Lopiano, L., Bonifati, Vincenzo, Rood, Janneke P. M. A., Yeh, Tu-Hsueh, Wu-Chou, Yah-Huei, Massaro, F., Emre, M., Marini, P., Kievit, Anneke J. A., Jardim, Laura Bannach, Obeso, J., Kelly, P., Atadzhanov, M., Kurtiz, M. M., Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R. M., Leenders, Klaus L., Melis, M., Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Zhang, Jianguo, Breedveld, Guido J., Minneboo, Michelle, Graafland, Josja, Bouwkamp, Christian G., Chien, Hsin Fen, Saute, Jonas A., Tassorelli, C., Pacchetti, C., Nappi, G., Riboldazzi, G., Bono, G., Comi, C., Padovani, A., Borroni, B., Raudino, F., Fincati, E., Bertolasi, L., Tinazzi, M., Bonizzato, A., Ferracci, C., Libera, A. Dalla, Boon, Agnita J. W., Meco, G., Vanacore, N., Cossu, G., van de Warrenburg, B., Delnooz, C., Rietveld, A., Bloem, B., Thomas, A., Onofrj, M., Marconi, R., Battisti, C., Taglia, I., Ferreira, J., Saddi, V., Quattrone, A., Annesi, G., Gagliardi, M., Trianni, G., Toni, V., Federico, A., Lamberti, P., Correia Guedes, L., Iliceto, G., Dell'Aquila, C., De Mari, M., Barone, P., Filla, A., De Michele, G., Criscuolo, C., De Rosa, A., Fabbrini, G., Picillo, M., Vacca, L., Stocchi, F., Berardelli, A., Fabrizio, E., Lu, Chin-Song, Elibol, B., Tufekcioglu, Z., Bilgic, B., Hanagasi, H., Verheijen, Frans W.

العلاقة: ee573f83-06c2-4220-bd5b-f0f28ec7e6f5; https://avesis.hacettepe.edu.tr/publication/details/ee573f83-06c2-4220-bd5b-f0f28ec7e6f5/oaiTest

الإتاحة: https://doi.org/10.1002/ana.24553Test
https://avesis.hacettepe.edu.tr/publication/details/ee573f83-06c2-4220-bd5b-f0f28ec7e6f5/oaiTest

المؤلفون: TAMBURIN, Stefano, Fincati, E.

المساهمون: Tamburin, Stefano, Fincati, E.

مصطلحات موضوعية: N/D

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000252212700282; ispartofbook:N/A; Abstracts of the XVII WFN Congress on Parkinson's Disease and Related Disorders; volume:13; issue:2; firstpage:S103; lastpage:S103; numberofpages:1; journal:PARKINSONISM & RELATED DISORDERS; http://hdl.handle.net/11562/954527Test; http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=3&SID=P26TvDcfNESs2KVU7Xa&page=3&doc=27&cacheurlFromRightClick=noTest

الإتاحة: https://doi.org/10.1016/S1353-8020Test(08)70633-3
http://hdl.handle.net/11562/954527Test
http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=3&SID=P26TvDcfNESs2KVU7Xa&page=3&doc=27&cacheurlFromRightClick=noTest

المؤلفون: Di Fonzo A., Chien H., Socal M, Giraudo S., Tassorelli C, Iliceto G., Fabbrini G, Marconi R., Fincati E., Abruzzese G, Marini P, Squitieri F., Horstink MWIM, Montagna P, Dalla Libera A., Stocchi, F., Goldwurm S, Ferreira J., Meco G., Martignoni E., Jardim L, Oostra BA, Barbosa E, Bonifati V. ., LOPIANO, Leonardo

المساهمون: Di Fonzo A, Chien H, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abruzzese G, Marini P, Squitieri F, Horstink MWIM, Montagna P, Dalla Libera A, Stocchi, F, Goldwurm S, Ferreira J, Meco G, Martignoni E, Lopiano L, Jardim L, Oostra BA, Barbosa E, Bonifati V .

العلاقة: 11th International Congress of Parkinson's Disease and Movement Disorders; volume:22 suppl 16; firstpage:S134; lastpage:S135; journal:MOVEMENT DISORDERS; http://hdl.handle.net/2318/118548Test

الإتاحة: http://hdl.handle.net/2318/118548Test

المؤلفون: Tommasi G., Fincati E., Zibetti M., Moretto G, LANOTTE, Michele Maria Rosario, LOPIANO, Leonardo

المساهمون: Tommasi G, Lanotte M, Fincati E, Zibetti M, Moretto G, Lopiano L.

العلاقة: 11th International Congress of Parkinson's Disease and Movement Disorders; volume:22 suppl 16; firstpage:S51; lastpage:S51; journal:MOVEMENT DISORDERS; http://hdl.handle.net/2318/120040Test

الإتاحة: http://hdl.handle.net/2318/120040Test