Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Dynamin 2 mutations in Charcot–Marie–Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

(2012) Páris N. M. Sidiropoulos et al.   BRAIN

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

(2012) Johann Böhm et al.   HUMAN MUTATION

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

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

G domain dimerization controls dynamin's assembly-stimulated GTPase activity

(2010) Joshua S. Chappie et al.   NATURE

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

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

(2009) Davide Pareyson et al.   LANCET NEUROLOGY

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

(2008) Anne Michalk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY