Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Nelis Eva"'
Autor:
Van Broeckhoven Christine, Nelis Eva, Fuchs Christina, Oezbey Sevinc, Ekici Arif B, Schachner Melitta, Rautenstrauss Bernd
Publikováno v:
BMC Cell Biology, Vol 3, Iss 1, p 29 (2002)
Abstract Background Mutations in P0, the major protein of the myelin sheath in peripheral nerves, cause the inherited peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome (DSS) and congenital hypomyelination (
Externí odkaz:
https://doaj.org/article/f149f5b19a5d4a818a968a53627b0cc7
Publikováno v:
In Forensic Science International: Genetics Supplement Series December 2019 7(1):291-293
Publikováno v:
In Forensic Science International: Genetics Supplement Series December 2019 7(1):185-186
Autor:
Irobi, Joy1, Nelis, Eva1, Verhoeven, Kristien1, De Vriendt, Els1, Dierick, Ines1, De Jonghe, Peter1,2, Van Broeckhoven, Christine1, Timmerman, Vincent1
Publikováno v:
Journal of the Peripheral Nervous System. Jun2002, Vol. 7 Issue 2, p87-95. 9p.
Autor:
Barisic, N., Claeys, Kristl G., Sirotković-Skerlev, M., Löfgren, Ann, Nelis, Eva, De Jonghe, Peter, Timmerman, Vincent
Publikováno v:
Annals of human genetics
Charcot-Marie-Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the clinical an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fd533f8d3954c3ee51803ae402b3155e
https://www.bib.irb.hr/409200
https://www.bib.irb.hr/409200
Autor:
Bennett, C.L., Shirk, A.J., Huynh, H.M., Street, V.A., Nelis, Eva, van Maldergem, L., De Jonghe, Peter, Jordanova, Albena, Guergueltcheva, V., Tournev, I., van den Bergh, P., Seeman, P., Radim Mazanec, V., Prochazka, T., Kremensky, I., Haberlova, J., Weiss, M.D., Timmerman, Vincent, Bird, T.D., Chance, P.F.
Publikováno v:
Annals of neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2097::d1cbf34a378529178c2e5bb96e411fb9
https://hdl.handle.net/10067/469240151162165141
https://hdl.handle.net/10067/469240151162165141
Bolest Charcot Marie Tooth (CMT) je najčešća nasljedna periferna neuropatija. Elektrofiziološki se razlikuju demijelinizirajući (CMT1) i aksonalni tip (CMT2).Klinički pregled i elektromioneurografija (EMNG) učinjeni su u 15-ero djece, a biopsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::ae173f8b56b2d8e0f8943f48d0c062e9
https://www.bib.irb.hr/162139
https://www.bib.irb.hr/162139
Autor:
Ekici, Arif B, Oezbey, Sevinc, Fuchs, Christina, Nelis, Eva, Van Broeckhoven, Christine, Schachner, Melitta, Rautenstrauss, Bernd
Publikováno v:
BMC cell biology
BMC Cell Biology, Vol 3, Iss 1, p 29 (2002)
BMC Cell Biology
BMC Cell Biology, Vol 3, Iss 1, p 29 (2002)
BMC Cell Biology
Background Mutations in P0, the major protein of the myelin sheath in peripheral nerves, cause the inherited peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome (DSS) and congenital hypomyelination (CH). We r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ad8399244bb4f0e71c65471d44fa3d55
https://hdl.handle.net/10067/550450151162165141
https://hdl.handle.net/10067/550450151162165141
Autor:
Mersijanova, I.V., Ismailov, S.M., Polyakov, A.V., Dadali, E.L., Fedotov, V.P., Nelis, Eva, Löfgren, Ann, Timmerman, Vincent, Van Broeckhoven, Christine, Evgrafov, O.V.
Publikováno v:
Human mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2097::57187799b0063cfbf870c46fdfe53bc3
https://hdl.handle.net/10067/281470151162165141
https://hdl.handle.net/10067/281470151162165141
Publikováno v:
Acta neurologica Belgica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2097::dd77549b5d931dcc98e77a3136745884
https://hdl.handle.net/10067/338300151162165141
https://hdl.handle.net/10067/338300151162165141