Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

(2013) Elizabeth M. Gibbs et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

(2013) Eric J. Horstick et al.   Nature Communications

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

(2013) Vandana A. Gupta et al.   PLoS Genetics

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

(2013) Johann Böhm et al.   PLoS Genetics

Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

(2012) Belinda S. Cowling et al.   PLoS Genetics

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice

(2012) Leonela Amoasii et al.   PLoS Genetics

Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

(2011) Belinda S. Cowling et al.   AMERICAN JOURNAL OF PATHOLOGY

Let's go bananas: revisiting the endocytic BAR code

(2011) Britta Qualmann et al.   EMBO JOURNAL

BIN1 is reduced and Cav1.2 trafficking is impaired in human failing cardiomyocytes

(2011) Ting-Ting Hong et al.   HEART RHYTHM

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

(2011) Vandana Gupta et al.   HUMAN MOLECULAR GENETICS

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

(2011) Christopher R. Pierson et al.   HUMAN MOLECULAR 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

Disrupted Membrane Structure and Intracellular Ca2+ Signaling in Adult Skeletal Muscle with Acute Knockdown of Bin1

(2011) Andoria Tjondrokoesoemo et al.   PLoS One

Drug screening in a zebrafish model of Duchenne muscular dystrophy

(2011) G. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Centronuclear Myopathies

(2011) Norma B. Romero et al.   Seminars in Pediatric Neurology

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

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

(2010) Anne-Cécile Durieux et al.   HUMAN MOLECULAR GENETICS

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

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

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

(2010) J. A. Bevilacqua et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

(2010) Johann Böhm et al.   Orphanet Journal of Rare Diseases

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

(2010) A. H. Beggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coordinated Actions of Actin and BAR Proteins Upstream of Dynamin at Endocytic Clathrin-Coated Pits

(2009) Shawn Ferguson et al.   DEVELOPMENTAL CELL

Amphipathic motifs in BAR domains are essential for membrane curvature sensing

(2009) Vikram K Bhatia et al.   EMBO JOURNAL

Imaging neural activity in worms, flies and mice with improved GCaMP calcium indicators

(2009) Lin Tian et al.   NATURE METHODS

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

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

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols