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

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

(2010) K. G. Claeys et al.   NEUROLOGY

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

(2010) Valérie Tosch et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

BIN1 Localizes the L-Type Calcium Channel to Cardiac T-Tubules

(2010) Ting-Ting Hong et al.   PLOS BIOLOGY

The BAR Domain Superfamily: Membrane-Molding Macromolecules

(2009) Adam Frost et al.   CELL

Bin1 Src Homology 3 Domain Acts as a Scaffold for Myofiber Sarcomere Assembly

(2009) Pasan Fernando et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

(2008) Jorge A. Bevilacqua et al.   ACTA NEUROPATHOLOGICA

What’s new in congenital myopathies?

(2008) Kathryn North   NEUROMUSCULAR DISORDERS

Centronuclear (myotubular) myopathy

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

Endosomal Phosphoinositides and Human Diseases

(2008) Anne-Sophie Nicot et al.   TRAFFIC