Zobrazeno 1 - 10
of 1 017
pro vyhledávání: '"Sewry, C"'
Publikováno v:
In Neuromuscular Disorders February 2015 25(2):111-119
Akademický článek
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Publikováno v:
In Neuromuscular Disorders 2010 20(2):142-147
Autor:
Kinali, M., Beeson, D., Pitt, M.C., Jungbluth, H., Simonds, A.K., Aloysius, A., Cockerill, H., Davis, T., Palace, J., Manzur, A.Y., Jimenez-Mallebrera, C., Sewry, C., Muntoni, F., Robb, S.A.
Publikováno v:
In Journal of Neuroimmunology 2008 201:6-12
Autor:
Sewry, C. A.1,2, Wallgren-Pettersson, C.3
Publikováno v:
Neuropathology & Applied Neurobiology. Feb2017, Vol. 43 Issue 1, p5-23. 19p.
Akademický článek
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Autor:
Weissner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Rooper, H, Phadke, R, Bettolo, CM, Barresi, R, Charlton, R, Boennemann, CG, Neto, OA, Reed, UC, Zanoteli, E, Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges Da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, RP, Thiele, S, Mueller, J, Kingston, H, Mueller, S, Curtis, E, Walter, MC, Strom, T, Straub, V, Bushby, K, Muntoni, F, Swan, LE, Lochmueller, H, Senderek, J
Publikováno v:
Wiessner, M, Roos, A, Munn, C J, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Roper, H, Phadke, R, Marini Bettolo, C, Barresi, R, Charlton, R, Bönnemann, C G, Abath Neto, O, Reed, U C, Zanoteli, E, Araújo Martins Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, R P, Thiele, S, Müller, J, Kingston, H, Müller, S, Curtis, E, Walter, M C, Strom, T M, Straub, V, Bushby, K, Muntoni, F, Swan, L E, Lochmüller, H & Senderek, J 2017, ' Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment ', American Journal of Human Genetics, vol. 100, no. 3, pp. 523-536 . https://doi.org/10.1016/j.ajhg.2017.01.024
American Journal of Human Genetics
American Journal of Human Genetics
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are
Autor:
Torelli, S., Scaglioni, D., Sardone, V., Domingos, J., Jones, A., Ellis, M., Eastwood, D., Feng, L., Leturcq, F., Ben Yaou, R., Ricci, E., Beuvin, M., Bonne, Gisèle, Sewry, C., Tasca, G., Phadke, R., Morgan, J., Muntoni, F.
Publikováno v:
24th International Annual Congress of the World-Muscle-Society (WMS)
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8d230a65da367d033705f2bfaf93d99e
https://hal.science/hal-03973454
https://hal.science/hal-03973454
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150818 (2016)
PLoS ONE
PLoS ONE
Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ffd1f947413c4d3f66fba41631d4831a
https://ora.ox.ac.uk/objects/uuid:925222c2-e1a6-416b-be5d-a3f3202f1e05
https://ora.ox.ac.uk/objects/uuid:925222c2-e1a6-416b-be5d-a3f3202f1e05