Associated Papers
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Bell S et al.
Stem Cell Reports, 2021
34214487 (PubMed )
Supplement: mmc1.pdf
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Fu R et al.
Molecular Genetics and Metabolism, 2015
Paroxysmal Kinesigenic Dystonia in a Lesch-Nyhan Disease Variant.
De La Casa-Fages B et al.
Movement Disorders Clinical Practice, 2014
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2010
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J et al.
Human Mutation, 2004
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Willers I et al.
Journal of Inherited Metabolic Disease, 1999
International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.
Cole J et al.
Mutation Research, 1994
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