Zobrazeno 1 - 10
of 256
pro vyhledávání: '"van den Maagdenberg AM"'
Autor:
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ligthart L, Hottenga JJ, Vink JM, Penninx BW, Boomsma DI, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman DI, Palotie A, North American Brain Expression Consortium, UK Brain Expression Consortium, International Headache Genetics Consortium, Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ligthart L, Hottenga JJ, Vink JM, Penninx BW, Boomsma DI, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman DI, Palotie A
Publikováno v:
Nature Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=erc_________::0d90ee21c9d74cf9a90ee38d2e1adf84
Akademický článek
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Autor:
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO
Publikováno v:
Nature Genetics, 44(9), 1030
Nature genetics
Nature genetics
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5340c120e42b07a60df6c472c9cc43da
Publikováno v:
The Journal of Headache and Pain, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Background Migraine is a common brain disorder that predominantly affects women. Migraine pain seems mediated by the activation of mechanosensitive channels in meningeal afferents. Given the role of transient receptor potential melastatin 3
Externí odkaz:
https://doaj.org/article/59649d1e58924ebab5b63313af98de9d
Autor:
Raike RS, Weisz C, Hoebeek FE, Terzi MC, De Zeeuw CI, van den Maagdenberg AM, Jinnah HA, Hess EJ
Publikováno v:
Neurobiology of Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=erc_________::5473c36e63d602f8a16424e65ea9bc41
Akademický článek
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Autor:
Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M.
Publikováno v:
Human mutation 28 (2007): 522–522.
info:cnr-pdr/source/autori:Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M./titolo:The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957./doi:/rivista:Human mutation/anno:2007/pagina_da:522/pagina_a:522/intervallo_pagine:522–522/volume:28
info:cnr-pdr/source/autori:Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M./titolo:The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957./doi:/rivista:Human mutation/anno:2007/pagina_da:522/pagina_a:522/intervallo_pagine:522–522/volume:28
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::ea0e28c18646165f7c2a45fb0a71b000
http://www.cnr.it/prodotto/i/9605
http://www.cnr.it/prodotto/i/9605
Autor:
van Rootselaar, AF, van Schaik, IN, Callenbach, PM, van den Maagdenberg, AM, Koelman, JH, Tijssen, MA
Publikováno v:
Movement Disorders, 19, S122-S123. Wiley
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e6c35692a629e9fe697c45a1319769e9
https://research.rug.nl/en/publications/4624a4a7-637c-4db9-bbb6-639eeab2e5e4
https://research.rug.nl/en/publications/4624a4a7-637c-4db9-bbb6-639eeab2e5e4
Akademický článek
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