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

Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide

(2012) Marie Maurer et al.   PLoS One

Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

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

Cells Respond to Mechanical Stress by Rapid Disassembly of Caveolae

(2011) Bidisha Sinha et al.   CELL

Let's go bananas: revisiting the endocytic BAR code

(2011) Britta Qualmann et al.   EMBO JOURNAL

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

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

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

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

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

(2010) Lars Klinge et al.   MUSCLE & NERVE

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

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

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

From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy

(2010) Coralie Spiegelhalter et al.   PLoS One

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

AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling

(2009) Saumya Pant et al.   NATURE CELL BIOLOGY

Molecular and cellular insights into a distinct myopathy of Great Dane dogs

(2009) Kin-Chow Chang et al.   VETERINARY JOURNAL

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

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

Inherited myopathy in a Great Dane

(2008) SE Davies et al.   AUSTRALIAN VETERINARY JOURNAL

Centronuclear (myotubular) myopathy

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