Andréa Richter
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Pediatric Hepatobiliary Diseases and Treatments, Mitochondrial Function and Pathology, Neurological diseases and metabolism, Organ Transplantation Techniques and Outcomes
Most-Cited Works
- → 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
- → Population history and its impact on medical genetics in Quebec(2005)208 cited
- → Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)(2012)191 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
- → Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease(2012)125 cited
- → A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis(2002)118 cited
- → The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects(2008)107 cited
- → U‐type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8(1994)101 cited
- → Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis(2007)99 cited