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Filters: Keyword is Muscle Proteins [Clear All Filters]
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A 173, 2789-2794 (2017).
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun 8, 16077 (2017).
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. Am J Hum Genet 98, 1082-1091 (2016).
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet 10, (2017).
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet 25, 4012-4020 (2016).