Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M et al.
Orphanet Journal of Rare Diseases, 2023
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS et al.
Genes, 2023
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Wesół-Kucharska D et al.
Molecular Genetics and Metabolism Reports, 2021
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S et al.
Clinical Chemistry, 2021
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.
Savasta S et al.
Journal of Pediatric Genetics, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E et al.
Developmental Medicine and Child Neurology, 2018
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M et al.
Neuropediatrics, 2018
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W et al.
Cold Spring Harbor Molecular Case Studies, 2017
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD et al.
Annals of Neurology, 2017
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Ferreira CR et al.
American Journal of Medical Genetics. Part A, 2017
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Ygberg S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD et al.
Brain : a Journal of Neurology, 2016
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Ortigoza-Escobar JD et al.
Orphanet Journal of Rare Diseases, 2014
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2013
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M et al.
Brain : a Journal of Neurology, 2013
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
Vernau KM et al.
Plos One, 2013
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Serrano M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012