Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
ERK signaling promotes resistance to TRK kinase inhibition in NTRK fusion-driven glioma mouse models.
Schmid S et al.
Cell Reports, 2024
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
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.
Ashrafi MR et al.
Iranian Journal of Pediatrics, 2013
[A case of Alexander disease suspected juvenile-onset and exacerbating after long stationary state].
Nagaishi A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
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
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.
Dotti MT et al.
Journal of Neurology, 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
GFAP and its role in Alexander disease.
Quinlan RA et al.
Experimental Cell Research, 2007
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R et al.
Human Genetics, 2006
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
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?
Brockmann K et al.
European Neurology, 2003