An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki et al. · Nature Genetics · 1994 · 1.8K citations

Life Sciences, Genetics, Molecular Genetics +11

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Gilles David, Nacer Abbas, Giovanni Stévanin et al. · Nature Genetics · 1997 · 772 citations

Life Sciences, Genetics, Molecular Genetics +4

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

Alexander disease: diagnosis with MR imaging.

Marjo S. van der Knaap, Sakkubai Naidu, Steven N. Breiter et al. · PubMed · 2001 · 340 citations · Full text

Medicine, Neurology, Radiology +17

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