Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene
Overview
Authors
Affiliations
Autosomal recessive spinocerebellar ataxia type 4 with a mutation: A case report.
Huang X, Fan D World J Clin Cases. 2022; 10(2):703-708.
PMID: 35097097 PMC: 8771376. DOI: 10.12998/wjcc.v10.i2.703.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo K, Rexach J, Lee H, Petty L, Perlman S, Valera J Hum Mutat. 2019; 41(2):487-501.
PMID: 31692161 PMC: 7182470. DOI: 10.1002/humu.23946.
Clinical application of next-generation sequencing to the practice of neurology.
Rexach J, Lee H, Martinez-Agosto J, Nemeth A, Fogel B Lancet Neurol. 2019; 18(5):492-503.
PMID: 30981321 PMC: 7055532. DOI: 10.1016/S1474-4422(19)30033-X.