Zobrazeno 1 - 3
of 3
pro vyhledávání: '"E M J Boon"'
Autor:
R Kos, J Israëls, C D L Van Gogh, J Altenburg, S Diepenhorst, T Paff, E M J Boon, G Pals, A H Neerincx, A H Maitland-Van Der Zee, E G Haarman
Publikováno v:
10.01 - Respiratory infections and bronchiectasis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69119d85c6eb4007ac0316f4102d0001
https://doi.org/10.1183/13993003.congress-2022.1671
https://doi.org/10.1183/13993003.congress-2022.1671
Autor:
Fieke M.E. Cox, Jan J.G.M. Verschuuren, Umesh A. Badrising, Egbert Bakker, E. M. J. Boon, C. A. C. Van Der Lans
Publikováno v:
European Journal of Neurology, 17(8), 1108-1109
European Journal of Neurology, 17(8), 1108-1109. Wiley-Blackwell
Cox, F M, Boon, E M J, Van Der Lans, C A C, Bakker, E, Verschuuren, J J G M & Badrising, U A 2010, ' TREX1 mutations are not associated with sporadic inclusion body myositis ', European Journal of Neurology, vol. 17, no. 8, pp. 1108-1109 . https://doi.org/10.1111/j.1468-1331.2010.02964.x
European Journal of Neurology, 17(8), 1108-1109. Wiley-Blackwell
Cox, F M, Boon, E M J, Van Der Lans, C A C, Bakker, E, Verschuuren, J J G M & Badrising, U A 2010, ' TREX1 mutations are not associated with sporadic inclusion body myositis ', European Journal of Neurology, vol. 17, no. 8, pp. 1108-1109 . https://doi.org/10.1111/j.1468-1331.2010.02964.x
Background: Sporadic inclusion body myositis (sIBM) is the most frequent acquired myopathy above the age of fifty. The exact mechanism causing this disease is not known, but immune-mediated features are prominent and are probably to play a role in it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fe5e5fda8857826340d9c7c96e7c2a
https://hdl.handle.net/1887/100753
https://hdl.handle.net/1887/100753
Autor:
S Hammans, Jay E. Self, Helen Griffiths, C Mercer, E M J Boon, Peter R. Hodgkins, F Shawkat, Andrew J. Lotery, M Murugavel
Publikováno v:
Self, J, Mercer, C, Boon, E M J, Murugavel, M, Shawkat, F, Hammans, S, Hodgkins, P, Griffiths, H & Lotery, A 2009, ' Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3 ', Eye, vol. 23, no. 12, pp. 2251-2255 . https://doi.org/10.1038/eye.2008.389
Eye, 23(12), 2251-2255. Nature Publishing Group
Eye, 23(12), 2251-2255. Nature Publishing Group
PurposeMutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1Aare responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). Considerable clinical and genetic ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87ad57caacb8471f4aba6e0fcfa1440
https://research.vumc.nl/en/publications/fe3c86d9-0acf-424a-8754-4190837e68ae
https://research.vumc.nl/en/publications/fe3c86d9-0acf-424a-8754-4190837e68ae