Scala, Marcello

Top Publications

Top Publications Authored or Co-Authored by "Scala, Marcello"

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

  Brain, Volume 143, No. 8, Year 2020, Citations 79
• Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

  Human Mutation, Volume 43, No. 3, Year 2022, Citations 75