Associated Papers
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
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Advanced Science (weinheim, Baden-wurttemberg, Germany), 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
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Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › ASPA
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
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Human Mutation, 2017
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
Di Pietro V et al.
Clinical Biochemistry, 2008
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Journal of Inherited Metabolic Disease, 2002
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Molecular Genetics and Metabolism, 0
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