Bevot, Andrea

Top Publications

Top Publications Authored or Co-Authored by "Bevot, Andrea"

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Genetics in Medicine, Volume 25, No. 8, Article 100885, Year 2023, Citations 64
• Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 46
• ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

  Journal of Inherited Metabolic Disease, Volume 39, No. 5, Year 2016, Citations 34
• Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

  Orphanet Journal of Rare Diseases, Volume 17, No. 1, Article 384, Year 2022, Citations 7