G. Uziel

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

Life Sciences, Genetics, Molecular Genetics +10

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Laura van Berge, Eline M. Hamilton, Tarja Linnankivi et al. · Brain · 2014 · 107 citations · Full text

Life Sciences, Genetics, Neurology +17

<i>GFAP </i>mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

Francesco Caroli, Roberta Biancheri, Marco Seri et al. · Clinical Genetics · 2007 · 35 citations

Life Sciences, Genetics, Molecular Genetics +16

Consciousness Disturbances in Megalencephalic Leukoencephalopathy with Subcortical Cysts

Marianna Bugiani, Isabella Moroni, Alberto Bizzi et al. · Neuropediatrics · 2003 · 29 citations · Full text

Medicine, Neurology, Neuroscience +17

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

Rita Barone, Luisa Sturiale, Agata Fiumara et al. · Journal of Inherited Metabolic Disease · 2006 · 18 citations

Medicine, Genetics, Molecular Genetics +15