المؤلفون: Nguyen, HH, van de Laarschot, Denise, Verkerk, AJ, Milat, F, Zillikens, M.C., Ebeling, P

المصدر: Nguyen , HH , van de Laarschot , D , Verkerk , AJ , Milat , F , Zillikens , M C & Ebeling , P 2018 , ' Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review ' , JBMR Plus , vol. 2 , no. 1 , pp. 1-11 . https://doi.org/10.1002/jbm4.10024Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/jbm4.10024Test
https://pure.eur.nl/en/publications/1db034e9-05af-4486-96aa-036df60be91bTest
https://pure.eur.nl/ws/files/48172942/REPUB_104081_OA.pdfTest
http://hdl.handle.net/1765/104081Test

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: van Rooij, Jeroen, Jhamai, Mila, Arp, Pascal, Nouwens, Stephanus, Verkerk, Marijn, Hofman, Bert, Ikram, Arfan, Verkerk, AJ, van Meurs, Joyce, Rivadeneira, Fernando, Uitterlinden, André, Kraaij, Robert

المصدر: van Rooij , J , Jhamai , M , Arp , P , Nouwens , S , Verkerk , M , Hofman , B , Ikram , A , Verkerk , AJ , van Meurs , J , Rivadeneira , F , Uitterlinden , A & Kraaij , R 2017 , ' Population-specific genetic variation in large sequencing data sets: why more data is still better ' , European Journal of Human Genetics , vol. 25 , no. 10 , pp. 1173-1175 . https://doi.org/10.1038/ejhg.2017.110Test

الإتاحة: https://doi.org/10.1038/ejhg.2017.110Test
https://pure.eur.nl/en/publications/971240b6-ad36-4df3-876a-42789c68fd49Test
http://hdl.handle.net/1765/103544Test