Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy

Furamidine Rescues Myotonic Dystrophy Type I Associated Mis-Splicing through Multiple Mechanisms

(2018) Jana R. Jenquin et al.   ACS Chemical Biology

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy

(2017) James D. Thomas et al.   GENES & DEVELOPMENT

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy

(2016) Stacey D. Wagner et al.   PLoS Genetics

Exome sequencing in the knockin mice generated using the CRISPR/Cas system

(2016) Kazuo Nakajima et al.   Scientific Reports

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

(2015) Giovanni Meola et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Development and functions of the choroid plexus–cerebrospinal fluid system

(2015) Melody P. Lun et al.   NATURE REVIEWS NEUROSCIENCE

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

(2014) Christos Krogias et al.   JOURNAL OF NEUROLOGY

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

The Unstable Repeats—Three Evolving Faces of Neurological Disease

(2013) David L. Nelson et al.   NEURON

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data

(2012) Shihao Shen et al.   NUCLEIC ACIDS RESEARCH

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

(2011) Zhen Zhi Tang et al.   HUMAN MOLECULAR GENETICS