Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance

(2014) Christine B. Gurniak et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

(2014) Ankit Garg et al.   JOURNAL OF CLINICAL INVESTIGATION

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

(2014) Michaela Yuen et al.   JOURNAL OF CLINICAL INVESTIGATION

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

(2013) Vandana A. Gupta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

(2013) Coen A. C. Ottenheijm et al.   BRAIN

503unc, a small and muscle-specific zebrafish promoter

(2013) Joachim Berger et al.   GENESIS

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

(2012) Nyamkhishig Sambuughin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

(2012) P. B. Agrawal et al.   HUMAN MOLECULAR GENETICS

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

(2012) R. K. Jain et al.   NEUROLOGY

Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness

(2012) Julien Ochala et al.   PLoS One

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

(2011) Gianina Ravenscroft et al.   BRAIN

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

(2011) W. R. Telfer et al.   Disease Models & Mechanisms

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

(2011) Gianina Ravenscroft et al.   PLoS One

New Insights into the Structural Roles of Nebulin in Skeletal Muscle

(2010) Coen A. C. Ottenheijm et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies

(2010) Aurélie Vandebrouck et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells

(2009) Drieke Vandamme et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment

(2009) A. S. Jacoby et al.   DEVELOPMENT

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

(2009) Nigel G. Laing et al.   HUMAN MUTATION

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

(2009) Vilma-Lotta Lehtokari et al.   NEUROMUSCULAR DISORDERS

High Data Output and Automated 3D Correlative Light-Electron Microscopy Method

(2008) Giuseppe Vicidomini et al.   TRAFFIC