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

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

Recent advances in nemaline myopathy

(2013) Norma B. Romero et al.   CURRENT OPINION IN NEUROLOGY

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

(2013) Josine Marieke de Winter et al.   JOURNAL OF MEDICAL GENETICS

An Integrated Diagnosis Strategy for Congenital Myopathies

(2013) Johann Böhm et al.   PLoS One

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA

Next generation sequencing for molecular diagnosis of neuromuscular diseases

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA

Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

(2012) K. Kiiski et al.   NEUROMUSCULAR DISORDERS

Centronuclear Myopathies

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

Nemaline Myopathies

(2011) Carina Wallgren-Pettersson et al.   Seminars in Pediatric Neurology

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

(2011) Michael W Lawlor et al.   Skeletal Muscle

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New Insights into the Structural Roles of Nebulin in Skeletal Muscle

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

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

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)

(2009) Coen A.C. Ottenheijm et al.   JOURNAL OF STRUCTURAL BIOLOGY

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

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

Effect of Inorganic Phosphate on the Force and Number of Myosin Cross-Bridges During the Isometric Contraction of Permeabilized Muscle Fibers from Rabbit Psoas

(2008) Marco Caremani et al.   BIOPHYSICAL JOURNAL