Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview
LEO Elsayed, IZ Eltazi, AE Ahmed… - Frontiers in Molecular …, 2021 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …
[HTML][HTML] A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province
T Shen, W Zhang, L Li, RX Zuo, ZJ Wang… - Annals of …, 2022 - ncbi.nlm.nih.gov
Background Hereditary spastic paraplegia (HSP) is a rare group of genetically
heterogeneous, neurodegenerative disorders. The aim of this study was to identify …
heterogeneous, neurodegenerative disorders. The aim of this study was to identify …
Clinical genetics—it's polygenic
A McNeill - European Journal of Human Genetics, 2021 - nature.com
The contribution of deleterious genetic variants to severe disease phenotypes is well
established. In this issue of EJHG we publish further examples. Buelow et al. report novel …
established. In this issue of EJHG we publish further examples. Buelow et al. report novel …