Manzur, Adnan Y.

Top Publications

Top Publications Authored or Co-Authored by "Manzur, Adnan Y."

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

  Annals of Neurology, Volume 68, No. 5, Year 2010, Citations 233
• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain, Volume 137, No. 1, Year 2014, Citations 149
• EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

  Brain, Volume 139, No. 3, Year 2016, Citations 100
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

  Nature Genetics, Volume 43, No. 12, Year 2011, Citations 89