C. Gaspar

发表

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.

B. Brais, G. Rouleau, A. Abu-Baker, 2003, Human molecular genetics.

Mutations in the APC tumour suppressor gene cause chromosomal instability

H. Clevers, R. Fodde, J. V. Es, 2001, Nature Cell Biology.

Signaling Pathways in Cancer: a Matter of Dosage

C. Gaspar, 2009 .

Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis.

H. Morreau, R. Fodde, P. Franken, 2008, The American journal of pathology.

APC dosage effects in tumorigenesis and stem cell differentiation.

Riccardo Fodde, R. Fodde, C. Gaspar, 2004, The International journal of developmental biology.

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

Í. Lopes-Cendes, S. Kish, R. Rosenberg, 1996, Neurology.

APC and Oncogenic KRAS Are Synergistic in Enhancing Wnt Signaling in Intestinal Tumor Formation and Progression

R. Fodde, C. Rosty, P. Franken, 2006 .

Machado–Joseph disease gene products carrying different carboxyl termini

Masahiko Watanabe, I. Kanazawa, S. Tsuji, 1997, Neuroscience Research.

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

L. Cupples, A. DeStefano, P. Maciel, 1996, American journal of human genetics.

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K 1 /Cl 2

G. Rouleau, M. Shekarabi, D. Rochefort, 2008 .

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

G. Rouleau, M. Shekarabi, J. Laganière, 2008, Human molecular genetics.

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.

Í. Lopes-Cendes, D. Chitayat, G. Rouleau, 1996, Archives of neurology.

Erratum: Apc modulates embryonic stem-cell differentiation by controlling the dosage of β-catenin signaling (Nature Genetics (2002) 32 (594-605))

R. Fodde, R. Smits, M. Taketo, 2003 .

Colonic cancer in a 34-yr-old woman: should it prompt microsatellite instability studies and mismatch repair gene testing?

L. Glória, M. Cravo, C. N. Leitão, 1998, American Journal of Gastroenterology.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Í. Lopes-Cendes, S. Tsuji, A. Brice, 2001, American journal of human genetics.

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1996, Human Genetics.

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract

Í. Lopes-Cendes, G. Rouleau, P. Maciel, 1999, European Journal of Human Genetics.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

S. Tsuji, V. Wong, A. Dürr, 2007, Archives of neurology.

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

G. Rouleau, J. Laganière, R. Gaudet, 2012, Human molecular genetics.

Apc modulates embryonic stem-cell differentiation by controlling the dosage of β-catenin signaling

R. Fodde, R. Smits, M. Taketo, 2003, Nature Genetics.

Restless legs syndrome‐associated MEIS1 risk variant influences iron homeostasis

J. Montplaisir, G. Rouleau, G. Turecki, 2011, Annals of neurology.

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

R. Fodde, J. Burn, M. Cravo, 2000, European Journal of Human Genetics.

Improvement in the molecular diagnosis of Machado-Joseph disease.

G. Rouleau, P. Maciel, P. Coutinho, 2001, Archives of neurology.

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum*

G. Rouleau, J. Rivière, M. Shekarabi, 2011, The Journal of Biological Chemistry.

MAJOR PATHOGENIC MECHANISM IN HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH AGENESIS OF THE CORPUS CALLOSUM

G. Rouleau, J. Rivière, M. Shekarabi, 2011 .

cAMP/PKA pathway activation in human mesenchymal stem cells in vitro results in robust bone formation in vivo

Joyce Doorn, Clemens van Blitterswijk, Jan de Boer, 2008, Proceedings of the National Academy of Sciences.

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1995, American journal of human genetics.

Wnt signaling inhibits osteogenic differentiation of human mesenchymal stem cells.

C. V. van Blitterswijk, J. de Boer, A. V. van Apeldoorn, 2004, Bone.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

J L Rapoport, A. Addington, L. DeLisi, 2011, Molecular Psychiatry.

Context-Dependent Functional Divergence of the Notch Ligands DLL1 and DLL4 In Vivo

D. Henrique, K. Preusse, C. Gaspar, 2015, PLoS genetics.

APC and oncogenic KRAS are synergistic in enhancing Wnt signaling in intestinal tumor formation and progression.

Miguel Abal, Patrick Franken, Riccardo Fodde, 2006, Gastroenterology.

Two Notch Ligands, Dll1 and Jag1, Are Differently Restricted in Their Range of Action to Control Neurogenesis in the Mammalian Spinal Cord

D. Henrique, C. Gaspar, S. Rocha, 2010, PloS one.

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

Simon E. Laganiere, J. Bouchard, B. Brais, 2005, Neurobiology of Disease.

BAT‐26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico‐pathological features and mutations in mismatch repair genes

J. Soares, M. Cravo, C. Gaspar, 1999, The Journal of pathology.

Genetics of familial and sporadic amyotrophic lateral sclerosis.

Guy A Rouleau, G. Rouleau, C. Gaspar, 2006, Biochimica et biophysica acta.

Radiation induces different changes in expression profiles of normal rectal tissue compared with rectal carcinoma

I. Nagtegaal, C. Marijnen, R. Fodde, 2005, Virchows Archiv.

Apc modulates embryonic stem-cell differentiation by controlling the dosage of β-catenin signaling

R. Fodde, R. Smits, M. Taketo, 2002, Nature Genetics.

A Targeted Constitutive Mutation in the Apc Tumor Suppressor Gene Underlies Mammary But Not Intestinal Tumorigenesis

Patrick Franken, Riccardo Fodde, Cor Breukel, 2009, PLoS genetics.

Cancer stemness in Wnt-driven mammary tumorigenesis.

R. Fodde, P. Franken, A. Sacchetti, 2014, Carcinogenesis.

Smad4 haploinsufficiency: a matter of dosage

Rodney J Scott, Patrick Franken, Riccardo Fodde, 2008, PathoGenetics.

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.

G. Rouleau, P. Dion, C. Gaspar, 2005, Human molecular genetics.

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation.

B. Brais, G. Rouleau, J. Laganière, 2000, Human molecular genetics.

Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians.

A. Desautels, J. Montplaisir, G. Rouleau, 2008, Sleep medicine.

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).

S. Pulst, Í. Lopes-Cendes, G. Rouleau, 2000, Human molecular genetics.

Wnt Signaling Regulates the Lineage Differentiation Potential of Mouse Embryonic Stem Cells through Tcf3 Down-Regulation

G. Calin, T. Mahmoudi, Y. Atlasi, 2013, PLoS genetics.

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado‐joseph disease

Í. Lopes-Cendes, A. Koeppen, S. Kish, 1996, Annals of neurology.

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

G. Rouleau, P. Maciel, J. Guimarães, 1998, American journal of medical genetics.

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

J. Montplaisir, G. Rouleau, J. Rivière, 2009, Human molecular genetics.

Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling

S. Duarte, J. Armstrong, P. Correia‐de‐Sá, 2020, Neurobiology of Disease.

Morphological changes in tumour type after radiotherapy are accompanied by changes in gene expression profile but not in clinical behaviour

I. Nagtegaal, C. V. D. van de Velde, C. Marijnen, 2004, The Journal of pathology.

Molecular genetic studies of DMT1 on 12q in French‐Canadian restless legs syndrome patients and families

A. Desautels, J. Montplaisir, M. Dubé, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Autosomal‐dominant locus for restless legs syndrome in French‐Canadians on chromosome 16p12.1

A. Desautels, J. Montplaisir, E. Lemyre, 2009, Movement disorders : official journal of the Movement Disorder Society.

Genome-Wide TDT Analysis in French-Canadian Families with Tourette Syndrome

F. Richer, M. Dubé, G. Rouleau, 2010, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases.

A. Desautels, J. Montplaisir, M. Dubé, 2010, Archives of neurology.

Association of intronic variants of the BTBD9 gene with Tourette syndrome.

F. Richer, G. Rouleau, J. Rivière, 2009, Archives of neurology.

Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.

P. Maciel, J. Guimarães, P. Coutinho, 1994, Genomics.

Distal truncation of KCC3 in non–French Canadian HMSN/ACC families

M. Tekin, G. Rouleau, J. Rivière, 2007, Neurology.

Gender equality in Machado–Joseph disease

L. Farrer, A. DeStefano, G. Rouleau, 1995, Nature Genetics.

CANADIAN RESTLESS LEGS SYNDROME TWIN STUDY

J. Montplaisir, G. Rouleau, G. Turecki, 2007, Neurology.

Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.

Tiago G Fernandes, D. Henrique, S. Duarte, 2015, Biotechnology journal.

Functional interaction between PKA and BM? Signaling during osteogenic differentiation of human mesenchymal stem cells.

R. Fodde, C. Blitterswijk, C. Gaspar, 2005 .

A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases

P. McPherson, G. Rouleau, D. Rochefort, 2017 .

Chapter 8 – Genetics of Restless Legs Syndrome

W. Hening, J. Montplaisir, G. Rouleau, 2009 .

Autosomal‐dominant locus for restless legs syndrome in French‐Canadians on chromosome 16p12.1

A. Desautels, J. Montplaisir, E. Lemyre, 2009, Movement disorders : official journal of the Movement Disorder Society.

Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis.

H. Morreau, R. Fodde, P. Franken, 2008, The American journal of pathology.