Rocca, Clarissa

Top Publications

Top Publications Authored or Co-Authored by "Rocca, Clarissa"

• Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 100
• Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

  Annals of Neurology, Volume 92, No. 2, Year 2022, Citations 65
• Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

  Genetics in Medicine, Volume 25, No. 11, Article 100938, Year 2023, Citations 59
• Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

  Human Genetics, Volume 142, No. 7, Year 2023, Citations 50
• Biallelic loss of EMC10 leads to mild to severe intellectual disability

  Annals of Clinical and Translational Neurology, Volume 9, No. 7, Year 2022, Citations 25