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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
TLDR
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease–specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
TLDR
It is found that there is no significant correlation between His1069Glu homozygosity and several clinical indices, including age of onset, clinical manifestation, ceruloplasmin activity, hepatic copper levels, and the presence of Kayser-Fleischer rings.
Topical Review: Hypomelanosis of Ito: Clinical Syndrome or Just Phenotype?
TLDR
It is suggested that hypomelanosis of Ito is not a single condition but rather a nonspecific manifestation of chromosomal mosaicism and that this term should now be dropped.
Multiple sclerosis in children under 6 years of age
TLDR
Definite MS can be consistently diagnosed by current criteria for adult onset MS in patients with the earliest onset of disease who show peculiar clinical features and natural history, and these findings may suggest a reconsideration of current lower limits for MS diagnostic criteria.
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
TLDR
This work developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region, and predicts that approximately half of all WD mutations will be rare in the American and Russian populations.
Multiple sclerosis in children under 10 years of age
TLDR
The need to have practical parameters for therapeutic, counselling and educational purposes in such settings as caring for patients whose onset of disease is at very early ages may increasingly arise for practising clinicians.
Autism and Phenylketonuria
TLDR
It is confirmed that classical PKU is one of the causes of autism, but the prevalence seems to be very low.
Hemihydranencephaly: living with half brain dysfunction
TLDR
Nine cases that fit the clinical and pathologic characteristics of hemi-hydranencephaly are selected, demonstrating that destruction of one hemisphere may be not always associated with severe neurologic impairment and may allow an almost normal life.
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