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RNA toxicity in human disease and animal models: From the uncovering of a new mechanism to the development of promising therapies

Biochimica et biophysica acta, 2013-09, Vol.1832 (9), p.1390-1409

2013

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Non-ATG-initiated translation directed by microsatellite expansions

Proceedings of the National Academy of Sciences - PNAS, 2011-01, Vol.108 (1), p.260-265

2011

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Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

Neuron (Cambridge, Mass.), 2012-08, Vol.75 (3), p.437-450

2012

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MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

Neuropathology and applied neurobiology, 2023-02, Vol.49 (1), p.e12876-n/a

2023

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DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus

International journal of molecular sciences, 2022-01, Vol.23 (2), p.592

2022

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

Frontiers in neurology, 2018-07, Vol.9, p.519-519

2018

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Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Nature communications, 2022-07, Vol.13 (1), p.3841-3841, Article 3841

2022

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Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus

PLoS genetics, 2012-11, Vol.8 (11), p.e1003043

2012

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Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled In Vivo by a Two-in-One Quantitative Microdialysis

ACS chemical neuroscience, 2022-01, Vol.13 (1), p.134-142

2022

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

Cell reports (Cambridge), 2017-06, Vol.19 (13), p.2718-2729

2017

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

Frontiers in cellular neuroscience, 2021-05, Vol.15, p.662035-662035

2021

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CTG trinucleotide repeat "big jumps": large expansions, small mice

PLoS genetics, 2007-04, Vol.3 (4), p.e52-e52

2007

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Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down

Mutation research, 2006-06, Vol.598 (1), p.15-34

2006

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Myotonic dystrophy mouse models: towards rational therapy development

Trends in molecular medicine, 2011-09, Vol.17 (9), p.506-517

2011

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

Human molecular genetics, 2011-10, Vol.20 (2), p.R116-R123

2011

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Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA

Frontiers in cellular neuroscience, 2021-02, Vol.14, p.606331-606331

2021

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DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice

Biochimica et biophysica acta, 2007-12, Vol.1772 (11), p.1183-1191

2007

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Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

Frontiers in cellular neuroscience, 2017-05, Vol.11, p.153-153

2017

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Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

Human molecular genetics, 2004-08, Vol.13 (16), p.1815-1825

2004

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Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Nature communications, 2022-07, Vol.13 (1), p.4091-4091, Article 4091

2022

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Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

Human molecular genetics, 2004-08, Vol.13 (16), p.1815-1825

2004

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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

Molecular biology reports, 2012, Vol.39 (1), p.415-424

2012

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

Rare diseases (Austin, Tex.), 2013-01, Vol.1 (1), p.e25553-e25553

2013

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Chemically induced increases and decreases in the rate of expansion of a CAGCTG triplet repeat

Nucleic acids research, 2004, Vol.32 (9), p.2865

2004

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RNA toxicity in human disease and animal models: From the uncovering of a new mechanism to the development of promising therapies

Non-ATG-initiated translation directed by microsatellite expansions

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus

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

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus

Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled In Vivo by a Two-in-One Quantitative Microdialysis

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

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

CTG trinucleotide repeat "big jumps": large expansions, small mice

Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down

Myotonic dystrophy mouse models: towards rational therapy development

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

Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA

DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

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

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

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

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

Chemically induced increases and decreases in the rate of expansion of a CAGCTG triplet repeat

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