Associated Papers
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.
Awuah WA et al.
Sage Open Medicine, 2024
[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].
Sun B et al.
Zhonghua Nei Ke Za Zhi, 2022
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
Gentile L et al.
Brain Sciences, 2021
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S et al.
Journal of Clinical Medicine, 2021
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
Ishihara S et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu C et al.
Journal of Molecular Medicine (berlin, Germany), 2018
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
Musacchio T et al.
Journal of Neurology, 2017
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
Hsiao CT et al.
Plos One, 2016
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.
Choi BO et al.
Neurogenetics, 2013
Select a paper to view details