Associated Papers
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.
Heshmatzad K et al.
European Journal of Medical Research, 2022
Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.
Lanciotti A et al.
International Journal of Molecular Sciences, 2021
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Adult-onset Alexander disease mimicking multiple system atrophy predominant cerebellar ataxia.
Watanabe Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2021
Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6.
Odo T et al.
Neurology. Genetics, 2020
Novel GFAP p. Glu206Ala Mutation in Alexander Disease with Decreased Dopamine Transporter Uptake.
Ogawa T et al.
Movement Disorders Clinical Practice, 2020
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].
Matsuyama Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.
Kondo T et al.
Acta Neuropathologica Communications, 2016
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Tesson C et al.
Human Genetics, 2015
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.
Wada Y et al.
Journal of the Neurological Sciences, 2013
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
Namekawa M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012
Archetypal and new families with Alexander disease and novel mutations in GFAP.
Messing A et al.
Archives of Neurology, 2012
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.
Namekawa M et al.
Bmc Neurology, 2010
Recent advances in our understanding of neurodegeneration.
Jellinger KA
Journal of Neural Transmission (vienna, Austria : 1996), 2009
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
Pareyson D et al.
Brain : a Journal of Neurology, 2008
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
Ohnari K et al.
Journal of Neurology, 2007
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R et al.
Annals of Neurology, 2005
Unusual variants of Alexander's disease.
van der Knaap MS et al.
Annals of Neurology, 2005
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.
Thyagarajan D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Alexander disease: a leukodystrophy caused by a mutation in GFAP.
Johnson AB
Neurochemical Research, 2004
Alexander disease: putative mechanisms of an astrocytic encephalopathy.
Mignot C et al.
Cellular and Molecular Life Sciences : Cmls, 2004
A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.
Kinoshita T et al.
Neuroscience Letters, 2003
Alexander's disease: clinical, pathologic, and genetic features.
Johnson AB et al.
Journal of Child Neurology, 2003
Alexander disease: GFAP mutations unify young and old.
Messing A et al.
The Lancet. Neurology, 2003
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?
Brockmann K et al.
European Neurology, 2003
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
Namekawa M et al.
Annals of Neurology, 2002