The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer, +18

Nature Genetics

Mendelian DisorderDisease MechanismWilson Disease GeneGeneticsPathogenesis +9

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Konstantin Petrukhin, S G Fischer, Mario Pirastu, +20

Nature Genetics

Molecular Diagnostic TechniquesMendelian DisorderDisease MechanismGenetic DisorderWilson Disease Gene +7

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Anjali B. Shah, Hong Tao Zhang, Barbara M. Ross, +13

The American Journal of Human Genetics

A Genomewide Screen for Autism Susceptibility Loci

Jianjun Liu, Dale R. Nyholt, Patrick Magnussen, +6

The American Journal of Human Genetics

Syndromic AutismGeneticsPsychiatric GeneticsAutism Susceptibility LociAutism

Neuropsychological assessment in children with absence epilepsy

Piero Pavone, Rio Bianchini, R. R. Trifiletti, +3

Neurology

TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

Poulabi Banerjee, Patrick W. Kleyn, James A. Knowles, +9

Nature Genetics

BiologyMendelian DisorderGenetic DisorderGeneticsTulp1 Mutation +5

Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection

Piero Pavone, Rio Bianchini, Enrico Parano, +4

Pediatric Neurology

Clinical InfectionAnti-brain AntibodiesNeurologyInfection ControlBacterial Meningitis +2

Electrophysiologic Correlates of Peripheral Nervous System Maturation in Infancy and Childhood

Enrico Parano, Antonio Uncini, Darryl C. De Vivo, +1

Journal of Child Neurology

Low Prevalence of Neurologic and Psychiatric Manifestations in Children with Gluten Sensitivity

Martino Ruggieri, Gemma Incorpora, Agata Polizzi, +3

The Journal of Pediatrics

Food IntoleranceFunctional Gastrointestinal DisorderPsychiatryClinical PresentationPediatrics +10

Epilepsy is not a Prominent Feature of Primary Autism

Piero Pavone, Gemma Incorpora, A. Fiumara, +3

Neuropediatrics

Neurodevelopmental DisordersNeuropsychologyAutistic PatientsPsychiatryPrimary Autism +13