Jungbluth, Heinz J.

Top Publications

Top Publications Authored or Co-Authored by "Jungbluth, Heinz J."

• 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
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

  Brain, Volume 146, No. 8, Year 2023, Citations 100
• Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

  American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Volume 156, No. 7, Year 2011, Citations 65