Schara, Ulrike

Top Publications

Top Publications Authored or Co-Authored by "Schara, Ulrike"

• Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

  Brain, Volume 131, No. 3, Year 2008, Citations 133
• EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

  Brain, Volume 139, No. 3, Year 2016, Citations 100
• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

  Neurology, Volume 95, No. 11, Year 2020, Citations 38
• Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS

  European Journal of Paediatric Neurology, Volume 20, No. 6, Year 2016, Citations 21