Wilson's disease and other neurological copper disorders
Top Cited Papers
- 1 January 2015
- journal article
- review article
- Published by Elsevier in The Lancet Neurology
- Vol. 14 (1), 103-113
- https://doi.org/10.1016/s1474-4422(14)70190-5
Abstract
No abstract availableKeywords
This publication has 111 references indexed in Scilit:
- Low levels of copper disrupt brain amyloid-β homeostasis by altering its production and clearanceProceedings of the National Academy of Sciences, 2013
- Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: A new treatable disorderMovement Disorders, 2012
- Diverse Functional Properties of Wilson Disease ATP7B VariantsGastroenterology, 2012
- Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in ManAmerican Journal of Human Genetics, 2012
- Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver DiseaseAmerican Journal of Human Genetics, 2012
- Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and CeruloplasminAmerican Journal of Human Genetics, 2012
- ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse ModelMolecular Therapy, 2011
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALSNeuron, 2010
- Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor NeuropathyAmerican Journal of Human Genetics, 2010
- Neonatal Diagnosis and Treatment of Menkes DiseaseNew England Journal of Medicine, 2008