Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

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

Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature

(2011) M. Jeub et al.   CLINICAL NEUROPATHOLOGY

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

(2011) Ning Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

(2011) F. Hanisch et al.   JOURNAL OF NEUROLOGY

Crystal structure of nucleotide-free dynamin

(2011) Katja Faelber et al.   NATURE

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

(2011) Olga S. Koutsopoulos et al.   PLoS One

Common Membrane Trafficking Defects of Disease-Associated Dynamin 2 Mutations

(2011) Ya-Wen Liu et al.   TRAFFIC

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

Direct dynamin–actin interactions regulate the actin cytoskeleton

(2010) Changkyu Gu et al.   EMBO JOURNAL

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

(2010) Jon A Kenniston et al.   EMBO JOURNAL

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

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

Dynamin 2 Mutants Linked to Centronuclear Myopathies Form Abnormally Stable Polymers

(2010) Lei Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

(2010) Teerin Liewluck et al.   NEUROMUSCULAR DISORDERS

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

(2010) Rachel D. Susman et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

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

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

(2009) K. G. Claeys et al.   BRAIN

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

(2009) Shawn Ferguson et al.   DEVELOPMENTAL CELL

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

(2009) Marc Bitoun et al.   HUMAN MUTATION

An Intramolecular Signaling Element that Modulates Dynamin Function In Vitro and In Vivo

(2009) Joshua S. Chappie et al.   MOLECULAR BIOLOGY OF THE CELL

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION

(2009) M. Bitoun et al.   NEUROLOGY

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

(2009) Atle Melberg et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

(2009) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation

(2008) E. Gallardo et al.   JOURNAL OF NEUROLOGY

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings

(2008) Marc Bitoun et al.   NEUROMUSCULAR DISORDERS

Endosomal Phosphoinositides and Human Diseases

(2008) Anne-Sophie Nicot et al.   TRAFFIC