Sewry, Caroline A.

Top Publications

Top Publications Authored or Co-Authored by "Sewry, Caroline A."

• RYR1 mutations are a common cause of congenital myopathies with central nuclei

  Annals of Neurology, Volume 68, No. 5, Year 2010, Citations 233
• Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

  American Journal of Human Genetics, Volume 92, No. 3, Year 2013, Citations 170
• Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 150
• EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

  Brain, Volume 139, No. 3, Year 2016, Citations 100
• RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

  Human Mutation, Volume 34, No. 7, Year 2013, Citations 46