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Shunxiang Huang

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Articles 27
Citations 102
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Recent Articles
1.
Wang Q, Wang M, Zhu X, Liu L, Wang M, Sun J, et al.
Amyloid . 2024 Jul; 31(4):266-274. PMID: 39082942
Objective: This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant...
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Liu L, Zeng S, Li X, Xie Y, Xu K, Yang H, et al.
J Peripher Nerv Syst . 2024 May; 29(2):243-251. PMID: 38772550
Background And Aims: This study aimed to report nine Charcot-Marie-Tooth disease (CMT) families with six novel IGHMBP2 mutations in our CMT2 cohort and to summarize the genetic and clinical features...
4.
Li Z, Zeng S, Xie Y, Li X, Huang S, Zhao H, et al.
J Peripher Nerv Syst . 2024 May; 29(2):232-242. PMID: 38705839
Background And Aims: Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause axonal or demyelinating Charcot-Marie-Tooth disease (CMT) with autosomal dominant or recessive inheritance. In this study, we aim to report...
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Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, et al.
Zhong Nan Da Xue Xue Bao Yi Xue Ban . 2024 Mar; 48(10):1572-1582. PMID: 38432886
Objectives: Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy, usually caused by heterozygous deletion mutations in the peripheral myelin protein 22 () gene....
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Lin Z, Liu L, Li X, Huang S, Zhao H, Zeng S, et al.
J Neurol . 2023 Sep; 271(1):497-503. PMID: 37776383
Background: To identify genetic causes in 40 whole exome sequencing (WES)-negative Charcot-Marie-Tooth (CMT) families and provide a summary of the clinical and genetic features of the diagnosed patients. Methods: The...
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Tian Y, Hou X, Cao W, Zhou L, Jiao B, Zhang S, et al.
J Peripher Nerv Syst . 2023 Sep; 28(4):629-641. PMID: 37749855
Background And Aims: Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder mainly caused by abnormally expanded GGC repeats within the NOTCH2NLC gene. Most patients with NIID show...
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Li L, Xie Y, Zeng S, Li X, Lin Z, Huang S, et al.
J Peripher Nerv Syst . 2023 Aug; 28(4):608-613. PMID: 37584201
Background And Aims: Biallelic variants in the sorbitol dehydrogenase (SORD) gene have been identified as the genetic cause of autosomal recessive (AR) peripheral neuropathy (PN) manifesting as Charcot-Marie-Tooth disease type...
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Wang M, Yang H, Lin Z, Li X, Liu L, Huang S, et al.
J Neurol . 2023 Jun; 270(10):4959-4967. PMID: 37365282
With complicated conditions and a large number of potentially causative genes, the diagnosis of a patient with complex inherited peripheral neuropathies (IPNs) is challenging. To provide an overview of the...
10.
Lone M, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, et al.
Biochim Biophys Acta Mol Cell Biol Lipids . 2023 Jun; 1868(9):159359. PMID: 37348646
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disease. Recently, several gain-of-function mutations in SPTLC1 were associated with juvenile ALS. SPTLC1 encodes for a subunit of the serine-palmitoyltransferase...