Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Rainer Döffinger, Asma Smahi, Christine Bessia et al. · Nature Genetics · 2001 · 819 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

Michael Brenner, Odile Boespflug‐Tanguy, Diana Rodriguez et al. · Nature Genetics · 2001 · 686 citations

Life Sciences, Genetics, Neuroscience +10

αB-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain

Toru Iwaki, A. Kume-Iwaki, Ronald K.H. Liem et al. · Cell · 1989 · 553 citations

Life Sciences, Neurology, Neuroscience +8

PROGRESSIVE FIBRINOID DEGENERATION OF FIBRILLARY ASTROCYTES ASSOCIATED WITH MENTAL RETARDATION IN A HYDROCEPHALIC INFANT

W.S. Alexander · Brain · 1949 · 305 citations

Medicine, Neurology, Pediatrics +11

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

Rong Li, Gajja S. Salomons, James E. Goldman et al. · Annals of Neurology · 2005 · 271 citations

Medicine, Neurology, Pathology +15