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Andrea M. Richter

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
2000 · James C. Engert, Pierre Bérubé, et al. · Nature Genetics · 437
Population history and its impact on medical genetics in Quebec
2005 · A‐M Laberge, J Michaud, et al. · Clinical Genetics · 210
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
2012 · Martine Girard, Roxanne Larivière, et al. · Proceedings of the National Academy of Sciences · 194
GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases
1998 · A.Marquis Gacy, Geoffrey M Goellner, et al. · Molecular Cell · 174
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Autosomal recessive spastic ataxia of Charlevoix–Saguenay
1998 · Jean-Pierre Bouchard, Andrea Richter, et al. · Neuromuscular Disorders · 146
Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease
2012 · Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, et al. · PLoS Genetics · 126
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A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis
2002 · Pierre Chagnon, Jacques Michaud, et al. · The American Journal of Human Genetics · 124
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The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects
2008 · Karen E. Christensen, Charles V. Rohlicek, et al. · Human Mutation · 107
U‐type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8
1994 · John J. Mitchell, Michel Vekemans, et al. · American Journal of Medical Genetics · 101
Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11
1999 · Andrea Richter, John D. Rioux, et al. · The American Journal of Human Genetics · 93
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.
1989 · S Chamberlain, J Shaw, et al. · PubMed · 72
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec
2008 · Yaoming Yang, Anne-Marie Houle, et al. · Human Mutation · 63
Diversity of ARSACS Mutations in French-Canadians
2013 · I. Thiffault, M.J. Dicaire, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 59
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Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
2004 · Andrea M. Richter, Riza Koksal Ozgul, et al. · Neurogenetics · 59
Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype
2000 · Christine Bétard, Andrée Rasquin-Weber, et al. · The American Journal of Human Genetics · 42
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Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS): High-Resolution Physical and Transcript Map of the Candidate Region in Chromosome Region 13q11
1999 · James C. Engert, Carole Doré, et al. · Genomics · 32
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis
2005 · Bin Yu, Grant A. Mitchell, et al. · Experimental Cell Research · 31
Purification and characterization of activated human erythrocyte prolidase
1989 · Andrea M. Richter, Gerald L. Lancaster, et al. · Biochemistry and Cell Biology · 31
Risk of congenital heart defects is influenced by genetic variation in folate metabolism
2012 · Karen E. Christensen, Yassamin Feroz Zada, et al. · Cardiology in the Young · 30
Friedreich ataxia in Acadian families from eastern Canada: Clinical diversity with conserved haplotypes
1996 · Andrea Richter, Josée Poirier, et al. · American Journal of Medical Genetics · 27
In Situ Activation of Human Erythrocyte Prolidase: Potential for Enzyme Replacement Therapy in Prolidase Deficiency
1988 · Peter Hechtman, Andrea Richter, et al. · Pediatric Research · 25
An X-Linked Gene Affecting Mouse Cell DNA Synthesis Also Affects Production of Unintegrated Linear and Supercoiled DNA of Murine Leukemia Virus
1984 · A Richter, H L Ozer, et al. · Molecular and Cellular Biology · 25
Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
2001 · Jocelyne Mercier, Claude Prévost, et al. · Genetic Testing · 20
Cirhin up-regulates a canonical NF-κB element through strong interaction with Cirip/HIVEP1
2009 · Bin Yu, Grant A. Mitchell, et al. · Experimental Cell Research · 19
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
1993 · A Richter, K Morgan, et al. · PubMed · 16
Works count: 45
Citation count: 2,323
H-index: 22
I10-index: 28
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