[HTML][HTML] Genetic characterization of primary lateral sclerosis
EMJ de Boer, BS de Vries, M Pennings… - Journal of …, 2023 - Springer
Background and objectives Primary lateral sclerosis (PLS) is a motor neuron disease
characterised by loss of the upper motor neurons. Most patients present with slowly …
characterised by loss of the upper motor neurons. Most patients present with slowly …
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
Y Cao, H Zheng, Z Zhu, L Yao, W Tian… - Movement …, 2024 - Wiley Online Library
Background Next‐generation sequencing‐based molecular assessment has benefited the
diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and …
diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and …
Copy number variations in SPAST and ATL1 are rare among Brazilians
H Fussiger, BLS Pereira, JPD Padilha… - Clinical …, 2023 - Wiley Online Library
Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A
diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias …
diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias …
[HTML][HTML] Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study
W Yu, J He, X Liu, J Wu, X Cai, Y Zhang, X Liu… - Frontiers in …, 2023 - frontiersin.org
Background: Hereditary spastic paraplegia (HSP) constitutes a group of clinically and
genetically rare neurodegenerative diseases characterized by progressive corticospinal …
genetically rare neurodegenerative diseases characterized by progressive corticospinal …
Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia
SL Hsu, YC Liao, KP Lin, PY Lin, KW Yu… - Parkinsonism & Related …, 2022 - Elsevier
Background Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited
neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and …
neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and …
Spastic Paraplegia Type 8: A First Report from India
R Mahale, G Arunachal, A Davuluri… - Annals of Indian …, 2023 - journals.lww.com
Dear Sir, Spastic paraplegia type 8 (SPG8) is a rare autosomal‑dominant hereditary spastic
paraplegia (AD‑HSP) caused by the mutation in the WASHC5 (KIAA0196) gene on …
paraplegia (AD‑HSP) caused by the mutation in the WASHC5 (KIAA0196) gene on …