Beetz, Christian

Top Publications

Top Publications Authored or Co-Authored by "Beetz, Christian"

• CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

  Brain, Volume 132, No. 6, Year 2009, Citations 104
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  Molecular Psychiatry, Volume 28, No. 2, Year 2023, Citations 99
• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Brain, Volume 143, No. 10, Year 2020, Citations 88