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1دورية أكاديمية
المؤلفون: Teive, HA, Barbosa, ER, Lees, AJ
المصدر: Arquivos de Neuro-Psiquiatria , 75 (1) pp. 69-71. (2017)
مصطلحات موضوعية: hepatolenticular degeneration, therapeutics, penicillamine
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1538693/1/0004-282X-anp-75-01-0069.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1538693Test/
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2دورية أكاديمية
المؤلفون: Silveira-Moriyama, L, Azevedo, AMS, Ranvaud, R, Barbosa, ER, Doty, RL, Lees, AJ
المصدر: ARQ NEURO-PSIQUIAT , 68 (5) 700 - 705. (2010)
مصطلحات موضوعية: olfaction, odor, smell identification, olfactory test, smell test, UPSIT, Brazil, Portuguese, Brazilian, income, SEX-DIFFERENCES, ODOR IDENTIFICATION, OLFACTORY FUNCTION, DISEASE, PARKINSONISM
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/264748/1/v68n5a05.pdfTest; https://discovery.ucl.ac.uk/id/eprint/264748Test/
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3دورية أكاديمية
المؤلفون: Barbosa, ER, Takada, LT, Goncalves, LR, Costa, RMPD, Silveira-Moriyama, L, Chien, HF
المصدر: ARQ NEURO-PSIQUIAT , 68 (4) 502 - 505. (2010)
مصطلحات موضوعية: botulinum toxin, hemifacial spasm, BLEPHAROSPASM, EFFICACY
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/134991/1/v68n4a06.pdfTest; https://discovery.ucl.ac.uk/id/eprint/134991Test/
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4دورية أكاديمية
المؤلفون: Silveira-Moriyama, L, Goncalves, LR, Chien, HF, Barbosa, ER
المصدر: ARQ NEURO-PSIQUIAT , 63 (2A) 221 - 224. (2005)
مصطلحات موضوعية: botulinum toxin, blepharospasm, dystonia, TERM-FOLLOW-UP, INJECTIONS, THERAPY, FAILURE
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/88445/1/a06v632a.pdfTest; https://discovery.ucl.ac.uk/id/eprint/88445Test/
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5
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/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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377fTest
https://doi.org/10.1093/brain/awu067Test -
6دورية أكاديمية
المؤلفون: Quadri, Marialuisa, Breedveld, Guido, Chang, HC, Yeh, TH, Guedes, LC, Toni, V, Fabrizio, E, de Mari, M, Thomas, A, Tassorelli, C, Rood, Janneke, Saddi, V, Chien, HF, Kievit, Anneke, Boon, Agnita, Stocchi, F, Lopiano, L, Abbruzzese, G, Cortelli, P, Meco, G, Cossu, G, Barbosa, ER, Ferreira, JJ, Lu, CS, Bonifati, Vincenzo
المصدر: Quadri , M , Breedveld , G , Chang , HC , Yeh , TH , Guedes , LC , Toni , V , Fabrizio , E , de Mari , M , Thomas , A , Tassorelli , C , Rood , J , Saddi , V , Chien , HF , Kievit , A , Boon , A , Stocchi , F , Lopiano , L , Abbruzzese , G , Cortelli , P , Meco , G , Cossu , G , Barbosa , ER , Ferreira , JJ , Lu , CS & Bonifati , ....
الإتاحة: https://doi.org/10.1002/mds.26900Test
https://pure.eur.nl/en/publications/1824da6c-f249-482d-9a08-a1e447a6d7e5Test
http://hdl.handle.net/1765/98087Test -
7دورية أكاديمية
المؤلفون: Olgiati, Simone, Quadri, Marialuisa, Fang, MY, Rood, Janneke, Saute, JA, Chien, HF, Bouwkamp, Christian, Graafland, Josja, Minneboo, Michelle, Breedveld, Guido, Zhang, JG, Verheijen, Frans, Boon, Agnita, Kievit, Anneke, Jardim, LB, Mandemakers, Wim, Barbosa, ER, Rieder, CRM, Leenders, KL, Wang, Johnny, Bonifati, Vincenzo
المصدر: Olgiati , S , Quadri , M , Fang , MY , Rood , J , Saute , JA , Chien , HF , Bouwkamp , C , Graafland , J , Minneboo , M , Breedveld , G , Zhang , JG , Verheijen , F , Boon , A , Kievit , A , Jardim , LB , Mandemakers , W , Barbosa , ER , Rieder , CRM , Leenders , KL , Wang , J & Bonifati , V 2016 , ' DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease ' , Annals of Neurology , ....
الإتاحة: https://doi.org/10.1002/ana.24553Test
https://pure.eur.nl/en/publications/87a8d3bb-01f1-40b4-af49-d6f9cc485843Test -
8دورية أكاديمية
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
المصدر: Olgiati , S , Skorvanek , M , Quadri , M , Minneboo , M , Graafland , J , Breedveld , G , Bonte , R , Ozgur , Z , Van den Hout - van Vroonhoven , M , Schoonderwoerd , K , Verheijen , F , van Ijcken , W , Chien , HF , Barbosa , ER , Chang , HC , Lai , SC , Yeh , TH , Lu , CS , Wu-Chou , YH , Kievit , A , Han , V , Gdovinova , Z , Jech , R , Hofstra ....
الإتاحة: https://doi.org/10.1002/mds.26610Test
https://pure.eur.nl/en/publications/eee0bde7-1a74-4348-aed2-2550ea9dbe9eTest
http://hdl.handle.net/1765/97190Test -
9
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::37447f0a4dd34f2c4bf91fd7450259e6Test
https://doi.org/10.4172/lpma.1000226Test -
10
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ff383e1c61630cd67e8c3f6d710ddc96Test
https://pubmed.ncbi.nlm.nih.gov/27159584Test