Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

(2013) S. Lassche et al.   NEUROLOGY

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy

(2011) C. A. C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Retraction: Myostatin Induces Degradation of Sarcomeric Proteins through a Smad3 Signaling Mechanism During Skeletal Muscle Wasting

(2011) Sudarsanareddy Lokireddy et al.   MOLECULAR ENDOCRINOLOGY

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

(2011) Céline Vanderplanck et al.   PLoS One

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

(2011) Silvère M. van der Maarel et al.   TRENDS IN MOLECULAR MEDICINE

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

(2010) Lindsay M. Wallace et al.   ANNALS OF NEUROLOGY

Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein

(2010) Meredith L. Hanel et al.   DIFFERENTIATION

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites

(2010) Q. Liu et al.   JOURNAL OF CELL SCIENCE

Clinical features of facioscapulohumeral muscular dystrophy 2

(2010) J. C. de Greef et al.   NEUROLOGY

Inclusion body myositis

(2010) D. Hilton-Jones et al.   NEUROMUSCULAR DISORDERS

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Tuning Passive Mechanics through Differential Splicing of Titin during Skeletal Muscle Development

(2009) Coen A.C. Ottenheijm et al.   BIOPHYSICAL JOURNAL

FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy

(2009) R. D. Wuebbles et al.   Disease Models & Mechanisms

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

Nebulin Alters Cross-bridge Cycling Kinetics and Increases Thin Filament Activation

(2009) Murali Chandra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy

(2009) Hermien E. Kan et al.   NEUROMUSCULAR DISORDERS

Facioscapulohumeral Dystrophy

(2007) Shree Pandya et al.   PHYSICAL THERAPY