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Tonduti D, Ardissone A, Ceccherini I, Giaccone G, Farina L, Moroni I. Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. Neurol Sci. 2016; 37(6): 973-977.TondutiDArdissoneACeccheriniIGiacconeGFarinaLMoroniIUnusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease201637697397710.1007/s10072-015-2466-926743065Search in Google Scholar
Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. Eur J Paediatr Neurol. 2014; 18(4): 495-501.NishriDEdvardsonSLevDLeshinsky-SilverEBen-SiraLHennekeMLerman-SagieTBlumkinLDiagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder201418449550110.1016/j.ejpn.2014.03.00924742911Search in Google Scholar
Ashrafi MR, Tavasoli A, Aryani O, Alizadeh H, Houshmand M. Alexander disease: Report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran. Iran J Pediatr. 2013; 23(4): 481-484.AshrafiMRTavasoliAAryaniOAlizadehHHoushmandMAlexander disease: Report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran2013234481484Search in Google Scholar
Goyal M, Mehndiratta S, Faruq M, Dwived MK, Kapoor S. Infantile onset Alexander disease with normal head circumference: a genetically proven case report. J Clin Diagn Res. 2014; 8(11): 3-4.GoyalMMehndirattaSFaruqMDwivedMKKapoorSInfantile onset Alexander disease with normal head circumference: a genetically proven case report20148113410.7860/JCDR/2014/10211.5200429030125584279Search in Google Scholar
Poloni CB, Ferey S, Haenggeli CA, Delavelle J, Bottani A, Salomons GS, et al. Alexander disease: early presence of cerebral MRI criteria. Eur J Paediatr Neurol. 2009; 13(6): 556-558.PoloniCBFereySHaenggeliCADelavelleJBottaniASalomonsGSet alAlexander disease: early presence of cerebral MRI criteria200913655655810.1016/j.ejpn.2008.11.00819128991Search in Google Scholar
Olabaria M, Putilina M, Riemer EC, Goldman JE. Astrocyte pathology in Alexander disease causes a marked inflammatory environment. Acta Neuropathol. 2015; 130(4): 469-486.OlabariaMPutilinaMRiemerECGoldmanJEAstrocyte pathology in Alexander disease causes a marked inflammatory environment2015130446948610.1007/s00401-015-1469-126296699Search in Google Scholar
Van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: Diagnosis with MR imaging. Am J Neuroradiol. 2001; 22(3): 541-552.Van der KnaapMSNaiduSBreiterSNBlaserSStroinkHSpringerSet alAlexander disease: Diagnosis with MR imaging2001223541552Search in Google Scholar
Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology. 2002; 58(10): 1494-1500.GorospeJRNaiduSJohnsonABPuriVRaymondGVJenkinsSDet alMolecular findings in symptomatic and pre-symptomatic Alexander disease patients200258101494150010.1212/WNL.58.10.1494Search in Google Scholar
Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile , juvenile, and adult forms of Alexander disease. Ann Neurol. 2005; 57(3): 310-326.LiRJohnsonABSalomonsGGoldmanJENaiduSQuinlanRet alGlial fibrillary acidic protein mutations in infantile , juvenile, and adult forms of Alexander disease200557331032610.1002/ana.2040615732097Search in Google Scholar
Wilson BA, Vargha-Khadem F, Florschutz G. Alexander’s disease and the story of Louise. Nueropsychol Rehabil. 2018; 28(2): 199-207.WilsonBAVargha-KhademFFlorschutzGAlexander’s disease and the story of Louise201828219920710.1080/09602011.2016.122294527580295Search in Google Scholar
Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glialfibril laryacidic protein, are associated with Alexander disease. Nat Genet. 2001; 27(1): 117-120.BrennerMJohnsonABBoespflug-TanguyORodriguezDGoldmanJEMessingAMutations in GFAP, encoding glialfibril laryacidic protein, are associated with Alexander disease200127111712010.1038/8367911138011Search in Google Scholar
Hagemann TL1, Connor JX, Messing A. Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. J Neurosci. 2006; 26(43): 11162-11173.HagemannTL1ConnorJXMessingAAlexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response20062643111621117310.1523/JNEUROSCI.3260-06.2006667466317065456Search in Google Scholar
Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S. An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. Brain Dev. 2006; 28(2): 131-133.AsahinaNOkamotoTSudoAKanazawaNTsujinoSSaitohSAn infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP200628213113310.1016/j.braindev.2005.05.00416168593Search in Google Scholar
Dotti MT, Buccoliero R, Lee A, Gorospe JR, Flint D, Galluzzi P, et al. An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. J Neurol. 2009; 256(4): 679-682.DottiMTBuccolieroRLeeAGorospeJRFlintDGalluzziPet alAn infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant2009256467968210.1007/s00415-009-0147-4286664819444543Search in Google Scholar
Lee SH, Nam TS, Kim KH, Kim JH, Yoon W, Heo SH, et al. Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model. BMC Neurol. 2017; 17(1): 175.LeeSHNamTSKimKHKimJHYoonWHeoSHet alAggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model201717117510.1186/s12883-017-0938-7559017828882119Search in Google Scholar
Torisu H, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, et al. Alexander disease with mild dorsal brain stem atrophy and infantile spasms. Brain Dev. 2013; 35(5): 441-444.TorisuHYoshikawaYYamaguchi-TakadaYYanoTSanefujiMIshizakiYet alAlexander disease with mild dorsal brain stem atrophy and infantile spasms201335544144410.1016/j.braindev.2012.06.00922818990Search in Google Scholar
Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, et al. A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. J Korean Med Sci. 2006; 21(5): 954-957.LeeJMKimASLeeSJChoSMLeeDSChoiSMet alA case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis200621595495710.3346/jkms.2006.21.5.954272201417043438Search in Google Scholar