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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Autor: 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

Publikováno v: 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

Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377f
https://doi.org/10.1093/brain/awu067

Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease

Autor: Vincenzo Bonifati, John C. van Swieten, Manuela Neumann, Annemieke J.M.H. Verkerk, Tsz Hang Wong, Rob Willemsen, Annemieke J.M. Rozemuller

Publikováno v: Brain, 138. Oxford University Press
Wong, T H, Verkerk, A J M H, Rozemuller, A J M, Willemsen, R, Neumann, M, Bonifati, V & van Swieten, J C 2015, ' Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease ', Brain, vol. 138, e358 . https://doi.org/10.1093/brain/awu333
Brain, 138:e358. Oxford University Press
Brain 138(6), e358-e358 (2014). doi:10.1093/brain/awu333

Sir, We thank Pottier et al. , 2014 for their interest in our recent study, reporting the identification of a novel mutation in the PRKAR1B gene in a family with cases of FUS-negative neuronal intermediate filament inclusion disease (NIFID) …

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4167ef2618bd4ac6042a17246a098d
https://pure.eur.nl/en/publications/555069ce-dd36-45d6-882f-d27408aabbcf