Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome

Alzheimer’s disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch–Nyhan disease)

(2015) Tae Hyuk Kang et al.   NEUROSCIENCE LETTERS

Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome

(2014) Khue Vu Nguyen   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants

(2014) D. J. Schretlen et al.   NEUROLOGY

Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study

(2013) David J Schretlen et al.   LANCET NEUROLOGY

Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase

(2013) Irène Ceballos-Picot et al.   MOLECULAR GENETICS AND METABOLISM

Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA

(2012) Khue Vu Nguyen et al.   MOLECULAR GENETICS AND METABOLISM

Lesch–Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members

(2012) Khue Vu Nguyen et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Novel Mutations in the Human HPRT Gene

(2011) Khue Vu Nguyen et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Epistasis in sporadic Alzheimer's disease

(2008) Onofre Combarros et al.   NEUROBIOLOGY OF AGING