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

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

(2010) Anne Toussaint et al.   ACTA NEUROPATHOLOGICA

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

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

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

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

(2009) Yoshihiro Kino et al.   NUCLEIC ACIDS RESEARCH

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1

(2008) Marianna Teplova et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases

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