Splicing biomarkers of disease severity in myotonic dystrophy

Design of a Bioactive Small Molecule That Targets the Myotonic Dystrophy Type 1 RNA via an RNA Motif–Ligand Database and Chemical Similarity Searching

(2012) Raman Parkesh et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

(2012) Bjarne Udd et al.   LANCET NEUROLOGY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

(2011) James E. Hilbert et al.   Contemporary Clinical Trials

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Alternative splicing dysregulation secondary to skeletal muscle regeneration

(2010) James P. Orengo et al.   ANNALS OF NEUROLOGY

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

(2010) Arturo López Castel et al.   HUMAN MOLECULAR GENETICS

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

(2010) Amanda J. Ward et al.   HUMAN MOLECULAR GENETICS

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs

(2010) Virginie François et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

(2010) Hongqing Du et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Myotonic Dystrophy Transgenic Mice Exhibit Pathologic Abnormalities in Diaphragm Neuromuscular Junctions and Phrenic Nerves

(2009) Petrica-Adrian Panaite et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Pentamidine reverses the splicing defects associated with myotonic dystrophy

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) S. A. M. Mulders et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

(2009) T. M. Wheeler et al.   SCIENCE

Aberrantly spliced  -dystrobrevin alters  -syntrophin binding in myotonic dystrophy type 1

(2008) M. Nakamori et al.   NEUROLOGY

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA