Author

Ning Wang

2 papers indexed here

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Oct 2026

Gain-of-Function Variants in PLAAT4 and Spinal Predominant Demyelinating Leukodystrophy.

Importance Leukoencephalopathies are clinically and etiologically heterogeneous disorders, and establishing a specific diagnosis remains challenging. Patients with unexplained spastic paraplegia and brain white matter hyperintensities (WMH) may be misdiagnosed as having multiple sclerosis, potentially exposing them to...

Yi-Heng Zeng, Bo-Li Chen, Yan Shi et al. · JAMA Neurology · 0 citations

Open access Sep 2026

De Novo Facioscapulohumeral Muscular Dystrophy

Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) includes approximately 10%–30% sporadic cases, where de novo pathogenic variants are hypothesized to be associated with more severe phenotypes. However, the systematic clinical characteristics and natural history of these cases remain poorly define...

Qi-Fang He, Xiao-Dan Lin, Yu-Hua Lin et al. · Neurology: Genetics · 0 citations