共 50 条
- [1] Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients [J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2018, 96 (07): : 701 - 712
- [2] Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia [J]. Journal of Neurology, 2013, 260 : 2516 - 2522
- [5] Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing [J]. European Journal of Human Genetics, 2016, 24 : 857 - 863
- [7] Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing [J]. Journal of Neurology, 2015, 262 : 1601 - 1612
- [8] Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (05): : 639 - 648
- [9] Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes [J]. neurogenetics, 2019, 20 : 27 - 38