Andréa Richter - Concepedia

Author

Andréa Richter

Centre Hospitalier Universitaire Sainte-Justine

Also Known As

A Richter, A. RICHTER, A. Richter, Andrea M. Richter, Andrea Richter, Andréa Richter, Jean-Luc Bigras, Richter, Andrea

100

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Centre Hospitalier Universitaire Sainte-Justine Université de Montréal McGill University Universität Hamburg University Medical Center Hamburg-Eppendorf

About

Andréa Richter is an author at Centre Hospitalier Universitaire Sainte-Justine specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	21	1.5K
2	Natural Sciences	6	6	343
3	Biochemistry	4	4	156
4	Health Sciences	2	2	38
5	Social Sciences	1	1	28

Andréa Richter

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF James C. Engert, Pierre Bérubé, Jocelyne Mercier, Nature Genetics Genetic DisorderGeneticsNew GeneGenetic EpidemiologySpastic Ataxia	2000	434
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Martine Girard, Roxanne Larivière, David A. Parfitt, Proceedings of the National Academy of Sciences Pyramidal SpasticityNeurodegenerative DiseasesSacsin Knockout MiceMitochondrial FunctionMitochondrial Dysfunction	2012	191
GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases A. Marquis Gacy, Geoffrey M. Goellner, Craig Spiro, Molecular Cell Other Trinucleotide DiseasesNeurodegenerative DiseasesGenome InstabilityGaa InstabilityGenetic Disorder	1998	172
A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis Pierre Chagnon, Jacques L. Michaud, Grant A. Mitchell, The American Journal of Human Genetics HepatologyGeneticsPathogenesisMissense MutationPathology	2002	118
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects Karen E. Christensen, Charles Rohlicek, Grégor Andelfinger, Human Mutation Heart FailureGeneticsMolecular BiologyMetabolic RemodelingCongenital Heart Anomaly	2008	107
U‐type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8 John J. Mitchell, Michel Vekemans, Sandra Luscombe, American Journal of Medical Genetics	1994	101
Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 Andréa Richter, John D. Rioux, Jean‐Pierre Bouchard, The American Journal of Human Genetics Mendelian DisorderLocation ScoreGenetic DisorderGeneticsGenetic Epidemiology	1999	91
Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis Cornelia Englert, Enke Grabhorn, Andréa Richter, Transplantation Translational MedicinePfic Type 2TransplantationHepatologyBiliary Tract	2007	89
Neonatal Hemochromatosis: Long-term Experience With Favorable Outcome Enke Grabhorn, Andréa Richter, M. Burdelski, PEDIATRICS	2006	70
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec Yaoming Yang, Anne‐Marie Houle, Julien Letendre, Human Mutation	2008	67

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