Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Marta Rusmini, Reza Maroofian et al.|Brain|2021Cited by 51
Genetic and phenotypic characterization of <i>NKX6‐2</i>‐related spastic ataxia and hypomyelinationViorica Chelban, Namik Kaya, Maysoon Alsagob et al.|European Journal of Neurology|2019Cited by 23
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Linda S. de Vries, Sniya Sudhakar et al.|Brain|2024Cited by 13
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G. Calame, Alison Male, Kyle P. Flannery et al.|Genetics in Medicine|2024Cited by 10
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G. Calame, Reza Boostani, Jovi Huixin Wong et al.|medRxiv|2024Cited by 2