A. Richter

发表

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

S. Scherer, A. C. Lionel, C. Marshall, 2012, PLoS genetics.

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.

G. Mitchell, A. Richter, Bin Yu, 2005, Experimental cell research.

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

J. Bouchard, J. Engert, J. Mathieu, 2001, Genetic testing.

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

G. Gyapay, T. Hudson, J. Weissenbach, 1999, American journal of human genetics.

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.

M. Farrall, R. Williamson, B. Keats, 1989, American journal of human genetics.

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

J. Bouchard, J. Poirier, K. Morgan, 1993, Advances in neurology.

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

T. Hudson, A. Verner, G. Mitchell, 2000, American journal of human genetics.

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.

E. Bradbury, J. Yao, R. Dyer, 1998, Molecular cell.

Population history and its impact on medical genetics in Quebec

B. Brais, E. Lemyre, J. Michaud, 2005, Clinical genetics.

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.

T. Hudson, J. Michaud, G. Mitchell, 2002, American journal of human genetics.

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

E. Lander, J. Bouchard, B. Ge, 2000, Nature Genetics.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

B. Birren, T. Hudson, J. Rioux, 1999, Genomics.

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French‐Canadian population from Quebec

Andrea Richter, Anne-Marie Houle, A. Richter, 2008, Human mutation.

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

S. Scherer, A. C. Lionel, C. Marshall, 2013, PLoS Genetics.

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

M. Pandolfo, L. Montermini, L. Pianese, 1997, Human molecular genetics.

Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec

R. Rozen, M. Dubé, G. Andelfinger, 2011, Cardiology in the Young.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

E. Shoubridge, B. Brais, M. Duchen, 2012, Proceedings of the National Academy of Sciences.

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

T. Hudson, J. Bouchard, D. Brunet, 1998, Neuromuscular Disorders.

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.

J. Bouchard, J. Poirier, K. Morgan, 1996, American journal of medical genetics.

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

R. Rozen, R. Mackenzie, G. Andelfinger, 2009, Human mutation.

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.

G. Mitchell, A. Richter, Bin Yu, 2009, Experimental cell research.

Diversity of ARSACS Mutations in French-Canadians

A. Montpetit, I. Thiffault, B. Brais, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

The Hereditary Ataxias

S. Pulst, H. Paulson, A. Koeppen, 1998, The Cerebellum.

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

H. Topaloglu, A. Richter, R. Ozgul, 2004, Neurogenetics.

Genetic Recombination Events Which Position the Friedreich Ataxia Locus Proximal to the D 9 S I 5 / D 9 S 5 Linkage Group on Chromosome 9 q

M. Farrall, G. Sirugo, M. Pandolfo, 2006 .

Direct prenatal diagnosis of Friedreich's disease

J. Poirier, A. Richter, S. Melançon, 1993, Prenatal diagnosis.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

T. Hudson, J. Bouchard, J. Mathieu, 1979, Neuromuscular Disorders.

Molecular analysis of the Friedreich's ataxia locus.

M. Koenig, M. Pandolfo, A. Richter, 1993, Advances in neurology.

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

R. Rozen, M. Dubé, G. Andelfinger, 2012, Cardiology in the Young.

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

J. Bouchard, D. Brunet, J. Mathieu, 1998, Neuromuscular Disorders.