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

Associations with autoimmune disorders and HLA class I and II antigens in inclusion body myositis

Autor: Badrising, UA, Schreuder, GMTh, Giphart, MJ, Geleijns, CPW, Verschuuren, JJ, Wintzen, AR, Maat-Schieman, MLC, van Doorn, Pieter, van Engelen, BGM, Faber, CG, Hoogendijk, JE, de Jager, AEJ, Koehler, PJJ, Visser, M, van Duinen, SG, Dutch IBM study group,

Publikováno v: Neurology, 63(12), 2396-2398. Lippincott Williams & Wilkins

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::1cb4a3d7049b22abf391e19bfd77b13a
https://pure.eur.nl/en/publications/43953116-88ee-4505-be18-91e20b80068a

Glioblastoma causing granulocystosis by secretion of granulocyte-colony-stimulating factor

Autor: Hintzen, Rogier, Voormolen, J, Sonneveld, Pieter, van Duinen, SG

Publikováno v: Neurology, 54, 259-261. Lippincott Williams & Wilkins (Wolters Kluwer)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::dd95d74077fbafd3be998bc395628e52
https://pure.eur.nl/en/publications/86fbfb69-619b-4a92-b879-454fa5b68471

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