Last Posted: Mar 22, 2018
- This little boy has a disease with no cure. His family is determined to fight back.
CJ Moss, Washington Post, March 17, 2018
- Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
Tonduti Davide, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016 1
- Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.
Di Giovanni M, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 9
- Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.
Ferreira Marie-Céleste, et al. European journal of medical genetics 2015 9 (9) 466-70
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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