Associated Papers
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
[Megalencephaly with dystonia revealing Canavan disease].
Maaloul I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2013
Relationship between enzyme properties and disease progression in Canavan disease.
Zano S et al.
Journal of Inherited Metabolic Disease, 2013
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
Durmaz AA et al.
Fetal and Pediatric Pathology, 2012
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.
Zhang H et al.
Brain & Development, 2010
Mutational analysis of aspartoacylase: implications for Canavan disease.
Hershfield JR et al.
Brain Research, 2007
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Molecular basis of Canavan's disease: from human to mouse.
Surendran S et al.
Journal of Child Neurology, 2003
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
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
Olsen TR et al.
Journal of Medical Genetics, 2002
Canavan disease: a monogenic trait with complex genomic interaction.
Surendran S et al.
Molecular Genetics and Metabolism, 0
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