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Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1)

Neuromuscular disorders : NMD, 2005-04, Vol.15 (4), p.287-292

2005

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The myotonic dystrophy type 1 drug development pipeline: 2022 edition

Drug discovery today, 2023-03, Vol.28 (3), p.103489-103489, Article 103489

2023

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Strong and Specific Recognition of CAG/CTG Repeat DNA (5’‐dWGCWGCW‐3’) by a Cyclic Pyrrole‐Imidazole Polyamide

Chembiochem : a European journal of chemical biology, 2022-01, Vol.23 (2), p.e202100533-n/a

2022

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Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing

Neuroscience research, 2024-03, Vol.200, p.48-56

2024

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The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

Internal Medicine, 2020, pp.2905-19

2020

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Affection of the Gastrointestinal Smooth Muscles in Myotonic Dystrophy is not Unusual

Internal Medicine, 2020, pp.3931-19

2020

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Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats

Neuromuscular disorders : NMD, 2018-01, Vol.28 (1), p.29-37

2018

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Ocular findings in a Spanish cohort of myotonic dystrophy type 1

Graefe's archive for clinical and experimental ophthalmology, 2023-04, Vol.261 (4), p.1109-1114

2023

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Molecular dynamics simulations on interaction of ssDNA-causing DM1 with carbon and boron nitride nanotubes to inhibit the formation of CTG repeat secondary structures

Applied surface science, 2020-09, Vol.524, p.146572, Article 146572

2020

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Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives

Graefe's archive for clinical and experimental ophthalmology, 2024-03, Vol.262 (3), p.903-911

2024

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Cell recovery from DM1 transgenic mouse tissue to study (CTG) n instability and DM1 pathogenesis

Methods in molecular biology (Clifton, N.J.), 2013, Vol.1010, p.253

2013

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Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1

Muscle & nerve, 2019-07, Vol.60 (1), p.90-95

2019

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Characteristics of myotonic dystrophy patients in the national registry of Japan

Journal of the neurological sciences, 2022-01, Vol.432, p.120080-120080, Article 120080

2022

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Highly sensitive MicroRNA 146a detection using a gold nanoparticle–based CTG repeat probing system and isothermal amplification

Analytica chimica acta, 2018-01, Vol.999, p.155-160

2018

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

Molecular therapy. Nucleic acids, 2022-03, Vol.27, p.184-199

2022

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Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2616

2021

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CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients

Molecular therapy. Nucleic acids, 2017-12, Vol.9 (C), p.337-348

2017

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Dysregulation of DNA repair genes in Fuchs endothelial corneal dystrophy

Experimental eye research, 2023-06, Vol.231, p.109499-109499, Article 109499

2023

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DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

International journal of molecular sciences, 2020-01, Vol.21 (2), p.457

2020

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CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis

The journal of clinical endocrinology and metabolism, 2020-04, Vol.105 (4), p.1137-1144

2020

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Mediastinal and pleural lipomatosis as a manifestation of myotonic dystrophy type 1

Lung India, 2021-09, Vol.38 (5), p.486-488

2021

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CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1

Frontiers in neuroscience, 2021-06, Vol.15, p.686735-686735

2021

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Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1

Internal Medicine, 2022/08/01, Vol.61(15), pp.2281-2286

2022

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The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

Internal Medicine, 2020/01/15, Vol.59(2), pp.277-283

2020

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Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

Molecular therapy. Nucleic acids, 2021-12, Vol.26, p.174-191

2021

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Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1)

The myotonic dystrophy type 1 drug development pipeline: 2022 edition

Strong and Specific Recognition of CAG/CTG Repeat DNA (5’‐dWGCWGCW‐3’) by a Cyclic Pyrrole‐Imidazole Polyamide

Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing

The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

Affection of the Gastrointestinal Smooth Muscles in Myotonic Dystrophy is not Unusual

Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats

Ocular findings in a Spanish cohort of myotonic dystrophy type 1

Molecular dynamics simulations on interaction of ssDNA-causing DM1 with carbon and boron nitride nanotubes to inhibit the formation of CTG repeat secondary structures

Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives

Cell recovery from DM1 transgenic mouse tissue to study (CTG) n instability and DM1 pathogenesis

Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1

Characteristics of myotonic dystrophy patients in the national registry of Japan

Highly sensitive MicroRNA 146a detection using a gold nanoparticle–based CTG repeat probing system and isothermal amplification

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

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients

Dysregulation of DNA repair genes in Fuchs endothelial corneal dystrophy

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis

Mediastinal and pleural lipomatosis as a manifestation of myotonic dystrophy type 1

CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1

Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1

The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

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