共 50 条
- [31] Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene ORPHANET JOURNAL OF RARE DISEASES, 2011, 6
- [32] Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene Orphanet Journal of Rare Diseases, 6
- [34] Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation European Journal of Human Genetics, 2014, 22 : 587 - 593
- [36] A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia Journal of Human Genetics, 2022, 67 : 669 - 673
- [39] UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia PLOS ONE, 2016, 11 (02):