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

[1]  J. Goldman,et al.  Alexander Disease: A Genetic Disorder of Astrocytes , 2009 .

[2]  P. Haydon,et al.  Astrocytes in (Patho)Physiology of the Nervous System , 2009 .

[3]  M. Ruberg,et al.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum , 2007, Nature Genetics.

[4]  U. Bogdahn,et al.  Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature , 2006, Clinical Neurology and Neurosurgery.

[5]  R. Schiffmann,et al.  Alexander Disease , 2019, Definitions.

[6]  M. Knaap,et al.  Propensity for paternal inheritance of de novo mutations in Alexander disease , 2006, Human Genetics.

[7]  B. Banwell,et al.  Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease , 2005, Annals of neurology.

[8]  F. Hanefeld,et al.  A Novel GFAP Mutation and Disseminated White Matter Lesions: Adult Alexander Disease? , 2003, European Neurology.

[9]  E. Hoffman,et al.  Molecular findings in symptomatic and pre-symptomatic Alexander disease patients , 2002, Neurology.

[10]  E. Bertini,et al.  Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. , 2001, American journal of human genetics.

[11]  C. Brenner.  Genomic approaches to elucidation of the Fhit pathway in worms and yeast: Rosetta Stone and synthetic lethals , 2001, Nature Genetics.

[12]  J. Valk,et al.  Alexander disease: diagnosis with MR imaging. , 2001, AJNR. American journal of neuroradiology.

[13]  D. Rodriguez,et al.  Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease , 2001, Nature Genetics.