Refreshing results…
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Download from www.researchgate.netToward deconstructing the phenotype of late-onset Pompe disease
Download from www.researchgate.netReducing Body Myopathy and Other FHL1-Related Muscular Disorders
Download from www.researchgate.netFour and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel Kv1.5
Download from dx.doi.orgCongenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Download from www.researchgate.netAngeborene und endogene endokrine Myopathien
Download from www.researchgate.netAnti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis
Download from www.researchgate.netNemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
Download from www.researchgate.netMyotonic dystrophy type 2 (DM2) and related disorders
Download from www.researchgate.netThe phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
Download from link.springer.comHexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Download from doi.orgNon-ATG–initiated translation directed by microsatellite expansions
Download from doi.orgMissing publications? Search for publications with a matching author name.