Novel mutation in an Egyptian patient with infantile Canavan disease

Tonic Activation of NMDA Receptors by Ambient Glutamate Enhances Excitability of Neurons

Pankaj Sah, Shaul Hestrin, R. A. Nicoll · Science · 1989 · 441 citations

Synaptic Plasticity, Ambient Glutamate Level, Neurophysiology +14

Consanguineous matings in the Egyptian population.

Mohamed Hafez, Hamed R. El-Tahan, Mona S. Awadalla et al. · Journal of Medical Genetics · 1983 · 181 citations · Full text

Fertility, Reproductive Health, Sexual Selection +16

Structure of aspartoacylase, the brain enzyme impaired in Canavan disease

E. Bitto, C.A. Bingman, G.E. Wesenberg et al. · Proceedings of the National Academy of Sciences · 2006 · 77 citations · Full text

Identification and characterization of novel mutations of the aspartoacylase gene in non‐Jewish patients with Canavan disease

Bai Jin Zeng, Z. H. Wang, Lucilene Arilho Ribeiro et al. · Journal of Inherited Metabolic Disease · 2002 · 65 citations

Mutational analysis of aspartoacylase: Implications for Canavan Disease

Jeremy R. Hershfield, Nagarajan Pattabiraman, Chikkathur N. Madhavarao et al. · Brain Research · 2007 · 40 citations · Full text

Allelic Variant, Somatic Variant, Genetic Disorder +7