Concepedia

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

Takashi Kinoshita, Toshihiro Imaizumi, Yumiko Miura, Hiroshi Fujimoto, Mitsuyoshi Ayabe, Hiroshi Shoji, Yuji Okamoto, Hiroshi Takashima, Mitsuhiro Osame, Masanori Nakagawa

Neuroscience Letters · 2003 · 41 citations · 18 references

DOI

Concepts

References

18

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

, , +10

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

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

, , +11

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

Diana Rodriguez, Fernande Gauthier, Enrico Bertini et al. · The American Journal of Human Genetics · 2001 · 150 citations · Full text

, , +10

Identification of <i>GFAP</i> gene mutation in hereditary adult‐onset Alexander's disease

Michito Namekawa, Yoshihisa Takiyama, Yoko Aoki et al. · Annals of Neurology · 2002 · 113 citations

, , +15

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

J. R. Gorospe, S. Naidu, Vandana Puri et al. · Neurology · 2002 · 101 citations

, , +17