Pagnamenta, Alistair T.

Top Publications

Top Publications Authored or Co-Authored by "Pagnamenta, Alistair T."

• 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
• Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 87
• AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

  Acta Neuropathologica, Volume 146, No. 2, Year 2023, Citations 52
• Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

  Human Mutation, Volume 42, No. 6, Year 2021, Citations 50