共 50 条
- [1] A novel GFAP mutation in a type II (late-onset) Alexander disease patientJOURNAL OF NEUROLOGY, 2016, 263 (04) : 821 - 822Brandao de Paiva, Anderson RodriguesFreua, FernandoLucato, Leandro TavaresParmera, JacyDoria, DeniseNobrega, Paulo RibeiroOlavio, Thiago RosaMacedo-Souza, Lucia InesKok, Fernando
- [2] Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander diseaseJournal of Human Genetics, 2013, 58 : 635 - 638Tomokatsu YoshidaIkuko MizutaKozo SaitoRyo OharaHiroshi KurisakiKeiko OhnariYuichi RikuYuichi HayashiHidekazu SuzukiHiroaki ShiiYasuhiro FujiwaraTadahiro YonezuAkiko NagaishiMasanori Nakagawa
- [3] A novel mutation in the GFAP gene in a familial adult onset Alexander diseaseJournal of Neurology, 2007, 254 : 1278 - 1280Andrea SalmaggiAndrea BotturiElena LampertiMarina GrisoliRita FischettoIsabella CeccheriniFrancesco CaroliAmerigo Boiardi
- [4] Familial Adult-Onset Alexander Disease with a Novel GFAP MutationMOVEMENT DISORDERS CLINICAL PRACTICE, 2016, 3 (03): : 300 - 302Ogura, HanaMaki, FutabaSasaki, NaoshiYoshida, TomokatsuHasegawa, Yasuhiro
- [5] Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander diseaseJOURNAL OF HUMAN GENETICS, 2013, 58 (09) : 635 - 638Yoshida, TomokatsuMizuta, IkukoSaito, KozoOhara, RyoKurisaki, HiroshiOhnari, KeikoRiku, YuichiHayashi, YuichiSuzuki, HidekazuShii, HiroakiFujiwara, YasuhiroYonezu, TadahiroNagaishi, AkikoNakagawa, Masanori
- [6] A Novel Mutation of GFAP Causing Adult-Onset Alexander DiseaseFRONTIERS IN NEUROLOGY, 2019, 10Ciammola, AndreaSangalli, DavideSassone, JennyPoletti, BarbaraCarelli, LauraBanfi, PaoloPappacoda, GabrieleCeccherini, IsabellaGrossi, AliceMaderna, LucaPingue, MonicaGirotti, FlorianoSilani, Vincenzo
- [7] Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP geneJournal of Neurology, 2011, 258 : 938 - 940Stephan SchmidtMike P. WattjesWanda M. GerdingMarjo van der Knaap
- [8] A novel mutation in the GFAP gene expands the phenotype of Alexander diseaseJOURNAL OF MEDICAL GENETICS, 2019, 56 (12) : 846 - 849Casasnovas, CarlosVerdura, EdgardVelez, ValentinaSchluter, AgathaPons-Escoda, AlbertHomedes, ChristianRuiz, MontserratFourcade, StephaneLaunay, NathaliePujol, Aurora
- [9] Adult-onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patientsNEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023, 49 (04)Ziad, FouziaCypers, GertPhillips, MatthewVanhoenacker, PietHostens, ArneYadavraj, SatishLamont, DuncanRobertson, Thomas
- [10] Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortexJOURNAL OF NEUROLOGY, 2012, 259 (03) : 457 - 461Suzuki, HidekazuYoshida, TomokatsuKitada, MariIchihashi, JuriSasayama, HiroshiNishikawa, YoshiroMistui, YoshiyukiNakagawa, MasanoriKusunoki, Susumu