Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh et al. · Neuromuscular Disorders · 2002 · 215 citations

Medicine, Genetics, Molecular Genetics +10

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

Nicole Monnier · Human Molecular Genetics · 2000 · 208 citations · Full text

Life Sciences, Genetics, Physiology +14

A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Ana Ferreiro, Nicole Monnier, Norma B. Romero et al. · Annals of Neurology · 2002 · 201 citations

Life Sciences, Genetics, Molecular Genetics +17

Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement

Antti Lamminen · British Journal of Radiology · 1990 · 185 citations

Medicine, Radiology, Diagnostic Imaging +8