Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern

Magnetic resonance imaging of muscle disease: A pattern-based approach

(2012) Andreu F. Costa et al.   MUSCLE & NERVE

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

(2012) Susana Quijano-Roy et al.   NEUROMUSCULAR DISORDERS

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

(2011) Robert-Yves Carlier et al.   NEUROMUSCULAR DISORDERS

Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

(2011) Mathieu Rederstorff et al.   PLoS One

Neuromuscular imaging in inherited muscle diseases

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

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

(2010) Perrine Castets et al.   HUMAN MOLECULAR GENETICS

Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

(2010) Erik Schoenmakers et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Oxidative stress inSEPN1-related myopathy: From pathophysiology to treatment

(2009) Sandrine Arbogast et al.   ANNALS OF NEUROLOGY

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

(2009) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

Association of homozygousLMNAmutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

(2008) Birgit Zirn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY