Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-015-2466-9.pdf
Reference12 articles.
1. Brenner M et al (2001) Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27(1):117–120
2. Prust M et al (2011) GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 77(13):1287–1294
3. van der Knaap MS et al (2001) Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 22(3):541–552
4. Farina L et al (2008) Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 29(6):1190–1196
5. Graff-Radford J et al (2014) Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology 82(1):49–56
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1. Developmental Profiles in Children and Young Adults with Alexander Disease;Developmental Neurorehabilitation;2023-05-07
2. A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes;European Journal of Human Genetics;2022-03-04
3. Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients;Molecular Genetics and Metabolism;2021-12
4. GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant;Clinical Neurology and Neurosurgery;2021-08
5. Does genetic anticipation occur in familial Alexander disease?;neurogenetics;2021-05-28
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