Sheng Yao
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View article: Validation of preoperative BRAF V600E testing by ThyroSCAN PanelChip in thyroid nodules
Validation of preoperative BRAF V600E testing by ThyroSCAN PanelChip in thyroid nodules Open
Objectives The high cost of preoperative molecular testing remains a significant barrier to their widespread clinical use. This prospective study aims to investigate the clinical applicability of the ThyroSCAN PanelChip, a qPCR-based metho…
View article: Clinical heterogeneity in a family with flail arm syndrome and review of <i>hnRNPA1</i>‐related spectrum
Clinical heterogeneity in a family with flail arm syndrome and review of <i>hnRNPA1</i>‐related spectrum Open
Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked cli…
View article: GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy Open
Background The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy. This study aim…
View article: Congenital myasthenic syndrome in China: genetic and myopathological characterization
Congenital myasthenic syndrome in China: genetic and myopathological characterization Open
Objective We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. Methods The clinical spectrum, mutational frequ…
View article: Benign monomelic amyotrophy of lower limb in a cohort of chinese patients
Benign monomelic amyotrophy of lower limb in a cohort of chinese patients Open
Background Benign monomelic amyotrophy of lower limb (BMALL) is a neurogenic syndrome representing an unclear field. Further studies might be helpful to elucidate uncertainties regarding causation, outcome, and the risk of progression to a…
View article: Repeat expansion scanning of the <i>NOTCH2NLC</i> gene in patients with multiple system atrophy
Repeat expansion scanning of the <i>NOTCH2NLC</i> gene in patients with multiple system atrophy Open
Objective Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clini…
View article: Variants in <i>MME</i> are associated with autosomal‐recessive distal hereditary motor neuropathy
Variants in <i>MME</i> are associated with autosomal‐recessive distal hereditary motor neuropathy Open
Objective To identify a new genetic cause in patients segregating distal hereditary motor neuropathy (dHMN) with an autosomal recessive pattern. Methods Whole‐exome sequencing was conducted in two siblings and was combined with segregation…
View article: Effects of aging, baseline renal function and stage of <scp>HIV</scp> infection on post‐treatment changes in renal function among <scp>HIV</scp>‐infected patients: a retrospective cohort study
Effects of aging, baseline renal function and stage of <span>HIV</span> infection on post‐treatment changes in renal function among <span>HIV</span>‐infected patients: a retrospective cohort study Open
Objectives The use of combination antiretroviral therapy ( cART ) increases clinical uncertainty about changes in renal function. Specifically, little is known regarding the interaction of the effects of aging, baseline renal impairment, a…