Instituut Born-bunge

Top Publications

Top Publications Authored or Co-Authored in "Instituut Born-bunge"

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

  Nature Genetics, Volume 10, No. 1, Year 1995, Citations 155
• Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 92, No. 2, Year 2013, Citations 150
• Transcriptional regulator PRDM12 is essential for human pain perception

  Nature Genetics, Volume 47, No. 7, Year 2015, Citations 136
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100