Zobrazeno 1 - 10
of 182
pro vyhledávání: '"Kalmar, B."'
Autor:
Schottlaender, LV, Abeti, R, Jaunmuktane, Z, Macmillan, C, Chelban, V, O'Callaghan, B, McKinley, J, Maroofian, R, Efthymiou, S, Athanasiou-Fragkouli, A, Forbes, R, Soutar, MPM, Livingston, JH, Kalmar, B, Swayne, O, Hotton, G, SYNAPS Study Group, Pittman, A, Mendes de Oliveira, JR, de Grandis, M, Richard-Loendt, A, Launchbury, F, Althonayan, J, McDonnell, G, Carr, A, Khan, S, Beetz, C, Bisgin, A, Tug Bozdogan, S, Begtrup, A, Torti, E, Greensmith, L, Giunti, P, Morrison, PJ, Brandner, S, Aurrand-Lions, M, Houlden, H
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9b91736092876a001847343472b06e69
https://openaccess.sgul.ac.uk/id/eprint/111822/1/mmc4.pdf
https://openaccess.sgul.ac.uk/id/eprint/111822/1/mmc4.pdf
Publikováno v:
In Experimental Neurology 2003 184(2):636-647
© 2018 Elsevier Inc. Background: Amyotrophic lateral sclerosis (ALS) is among the most common of the motor neuron diseases, and arguably the most devastating. During the course of this fatal neurodegenerative disorder, motor neurons undergo progress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::cccd9d73128fa02a70780901ec00d429
https://hdl.handle.net/10453/130266
https://hdl.handle.net/10453/130266
Autor:
Schottlaender, L. V., Abeti, R., Jaunmuktane, Z., Soutar, M., Mckinley, J., Swayne, O., Bettencourt, C., Forbes, R., Morrison, P. J., Hughes, D., Pittman, A., Kalmar, B., Grandis, M., Mcdonnell, G. V., Brandner, S., Lyons, M. Aurrand, Giunti, P., Houlden, H.
Publikováno v:
EUROPEAN JOURNAL OF NEUROLOGY
EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 (2, SI), pp.672
European Journal of Neurology
European Journal of Neurology, 2018, 25 (2, SI), pp.672
EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 (2, SI), pp.672
European Journal of Neurology
European Journal of Neurology, 2018, 25 (2, SI), pp.672
4th Congress of the European-Academy-of-Neurology (EAN), Lisbon, PORTUGAL, JUN 16-19, 2018
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c82ba5f63cca0ef2946aabdba318090e
https://hal-amu.archives-ouvertes.fr/hal-02143667
https://hal-amu.archives-ouvertes.fr/hal-02143667
Autor:
Kalmar, B., Burnstock, G., Vrbová, G., Urbanics, R., Csermely, P., Greensmith, L. 11To whom correspondence should be addressed. Fax: (44) 207 8131673. E-mail: l.greensmith@ion.ucl.ac.uk.
Publikováno v:
In Experimental Neurology July 2002 176(1):87-97
Publikováno v:
In Neurochemistry International 2001 38(5):453-461
Akademický článek
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Autor:
Carroll, J., Page, T. K. W., Chiang, S-C., Kalmar, B., Bode, D., Greensmith, L., Mckinnon, P. J., Thorpe, J. R., Hafezparast, M., El-Khamisy, S. F.
Aprataxin (APTX) deficiency causes progressive cerebellar degeneration, ataxia and oculomotor apraxia in man. Cell free assays and crystal structure studies demonstrate a role for APTX in resolving 5′-adenylated nucleic acid breaks, however, APTX f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::48772e0ed81ffac67bf34c4815fc6a44
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Sivakumar, P., Humphrey, J., Lo, K., Ricketts, T., Oliveira, H., Kalmar, B., Wang, E., Housman, D., Baralle, F., Greensmith, L., Buratti, E., Plagnol, V., Fisher, E.M.C., Arozena, A.A., Fratta, P.
Publikováno v:
In Neuromuscular Disorders April 2018 28 Supplement 1:S26-S26