Long-term follow-up in infantile-onset SCAR18: A case report
- 6 May 2020
- journal article
- research article
- Published by Elsevier BV in Journal of Clinical Neuroscience
- Vol. 77, 232-234
- https://doi.org/10.1016/j.jocn.2020.05.008
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task ForceThe Cerebellum, 2019
- Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patientClinical Case Reports, 2019
- A Rare Syndrome of GRID2 Deletion in 2 SiblingsChild Neurology Open, 2017
- GRID2 mutations span from congenital to mild adult-onset cerebellar ataxiaNeurology, 2015
- Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionGenetics in Medicine, 2015
- Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansNeurology, 2013
- A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and AtrophyJournal of Child Neurology, 2013
- Light- and electron-microscopic localization of the glutamate receptor channel 62 subunit in the mouse Purkinje cellNeuroscience Letters, 1995