Associated Papers
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.
Romano C et al.
Frontiers in Neurology, 2024
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
[A case of Alexander disease with dropped head syndrome].
Maeda K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Atypical MRI features in familial adult onset Alexander disease: case report.
Liu Y et al.
Bmc Neurology, 2016
Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.
Suzuki H et al.
Journal of Neurology, 2012
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.
Yoshida T et al.
Acta Neurologica Scandinavica, 2011
The process of inducing GFAP aggregates in astrocytoma-derived cells is different between R239C and R416W mutant GFAP. A time-lapse recording study.
Yoshida T et al.
Neuroscience Letters, 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
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.
Yoshida T et al.
Journal of Human Genetics, 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
Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors.
Samuel M et al.
Brain : a Journal of Neurology, 2004
Alexander disease: a leukodystrophy caused by a mutation in GFAP.
Johnson AB
Neurochemical Research, 2004
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.
Suzuki Y et al.
Brain & Development, 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
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.
Shiroma N et al.
Brain & Development, 2003
Alexander disease: GFAP mutations unify young and old.
Messing A et al.
The Lancet. Neurology, 2003
Autosomal dominant palatal myoclonus and spinal cord atrophy.
Okamoto Y et al.
Journal of the Neurological Sciences, 2002
[A case of juvenile Sandhoff disease].
Mitsuo K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1990