Serge B. Melançon
Montreal Children's Hospital(CA)McGill University Health Centre(CA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF(2000)434 cited
- → Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion(1997)270 cited
- → Neurologic Crises in Hereditary Tyrosinemia(1990)234 cited
- → GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases(1998)172 cited
- → Autosomal recessive spastic ataxia of Charlevoix–Saguenay(1998)140 cited