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

A new L-type calcium channel isoform required for normal patterning of the developing neuromuscular junction

(2012) Bernhard E. Flucher et al.   Channels

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

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

(2011) Charlotte Fugier et al.   NATURE MEDICINE

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

(2011) Frédérique Rau et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Alternative splicing dysregulation secondary to skeletal muscle regeneration

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

Disease-causing mutations of calcium channels

(2010) Nancy M. Lorenzon et al.   Channels

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

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

Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1

(2010) Misha Koshelev et al.   HUMAN MOLECULAR GENETICS

Muscle weakness inRyr1I4895T/WTknock-in mice as a result of reduced ryanodine receptor Ca2+ion permeation and release from the sarcoplasmic reticulum

(2010) Ryan E. Loy et al.   JOURNAL OF GENERAL PHYSIOLOGY

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

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

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

(2010) Jörg Striessnig et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Ca2+ channels and skeletal muscle diseases

(2010) Eun Hui Lee   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Expression of RNA CCUG Repeats Dysregulates Translation and Degradation of Proteins in Myotonic Dystrophy 2 Patients

(2009) Elizabeth Salisbury et al.   AMERICAN JOURNAL OF PATHOLOGY

Pathogenic mechanisms of myotonic dystrophy

(2009) Johanna E. Lee et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

A Ca V 1.1 Ca 2+ Channel Splice Variant with High Conductance and Voltage-Sensitivity Alters EC Coupling in Developing Skeletal Muscle

(2009) Petronel Tuluc et al.   BIOPHYSICAL JOURNAL

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling

(2009) Takashi Kimura et al.   CELL CALCIUM

Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias

(2009) Daniel Platt et al.   CURRENT OPINION IN NEUROLOGY

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

(2009) Robert J. Osborne et al.   HUMAN MOLECULAR GENETICS

Developmental Control of CaV1.2 L-Type Calcium Channel Splicing by Fox Proteins

(2009) Z. Z. Tang et al.   MOLECULAR AND CELLULAR BIOLOGY

Absence of a differentiation defect in muscle satellite cells from DM2 patients

(2009) Richard Pelletier et al.   NEUROBIOLOGY OF DISEASE

Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism

(2009) Douglas P. Millay 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

The Skeletal L-type Ca2+Current Is a Major Contributor to Excitation-coupled Ca2+entry

(2008) Roger A. Bannister et al.   JOURNAL OF GENERAL PHYSIOLOGY

Enhanced Excitation-Coupled Calcium Entry in Myotubes Expressing Malignant Hyperthermia Mutation R163C Is Attenuated by Dantrolene

(2008) G. Cherednichenko et al.   MOLECULAR PHARMACOLOGY

Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

(2008) J. P. Orengo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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