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List of works by Genevieve Gourdon

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

scientific article published on 10 December 2014

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.

scientific article published on 4 January 2017

CTG repeat instability and size variation timing in DNA repair-deficient mice ⬇️

scientific article published on May 1, 2003

Cell Recovery from DM1 Transgenic Mouse Tissue to Study (CTG) n Instability and DM1 Pathogenesis ⬇️

scientific article published on January 1, 2013

Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker

scientific article published on 01 October 1996

Defective satellite cells in congenital myotonic dystrophy

scientific article published on 01 September 2001

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.

scientific article published in June 2017

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues ⬇️

scientific article published on January 1, 2011

Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy.

scientific article

Identification of GATA-1 and NF-E2 Binding Sites in the Flanking Regions of the Human Alpha-Globin Genes ⬇️

scientific article published on January 1, 1992

Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1

scientific article published on 05 May 2021

Intriguing association between disease associated unstable trinucleotide repeat and CpG island

scientific article published on January 1, 1997

Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1

scientific article published on 12 August 2013

MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.

scientific article published on January 2004

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

scientific article published on 5 March 2011

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities ⬇️

scientific article published on November 1, 2001

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

scientific article published on 19 June 2011

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

scientific article

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

scientific article

Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy

scientific article

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.

scientific article

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour ⬇️

scientific article published on February 11, 2013

Myotonic dystrophy mouse models: towards rational therapy development.

scientific article published on 02 July 2011

Myotonic dystrophy transgenic mice exhibit pathologic abnormalities in diaphragm neuromuscular junctions and phrenic nerves.

scientific article published in August 2008

Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells.

scientific article published on 13 May 2011

Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges ⬇️

scientific article published on 05 August 2011

Non-radioactive detection of trinucleotide repeat size variability.

scientific article

Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy.

scientific article published on 10 July 2018

Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.

scientific article

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway

scientific article published on 25 March 2010

Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.

scientific article published on 27 June 2013

Role of upstream DNase I hypersensitive sites in the regulation of human alpha globin gene expression

article

Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development

scientific article published on 4 September 2015

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities ⬇️

scientific article published on August 1, 1998

Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides ⬇️

scientific article published on October 4, 2011

Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing

scientific article published on 26 June 2013

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

scientific article

The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy

scientific article published on 22 February 2007

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

scientific article published on 01 June 2018

The mouse alpha-globin locus regulatory element.

scientific article

The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.

scientific article published on June 2011

Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the <i>DMPK</i> gene

scientific article published on 29 November 2021

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

scientific article published on 15 August 2010

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

scientific article

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

scientific article published on 10 August 2009

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

scientific article published on 19 May 2018

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

scientific article published on 14 September 2021

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