Xin‐Ming Shen
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View article: Legacy and emerging plasticizer profiles in kindergarten classrooms: innovative source identification and exposure assessment
Legacy and emerging plasticizer profiles in kindergarten classrooms: innovative source identification and exposure assessment Open
View article: CPRSCA-ResNet: a novel ResNet-based model with Channel-Partitioned Resolution Spatial-Channel Attention for EEG-based seizure detection
CPRSCA-ResNet: a novel ResNet-based model with Channel-Partitioned Resolution Spatial-Channel Attention for EEG-based seizure detection Open
Epilepsy is a common chronic neurological disorder caused by abnormal discharges of brain neurons, characterized by transient disturbances in consciousness, motor function, behavior, or sensation. Recurrent seizures severely impair patient…
View article: Childhood exposure to per- and polyfluoroalkyl substances during eating activities: Occurrence, exposure, and developmental risk
Childhood exposure to per- and polyfluoroalkyl substances during eating activities: Occurrence, exposure, and developmental risk Open
View article: Short-term and long-term prognoses in AChR-Ab positive very-late-onset myasthenia gravis patients
Short-term and long-term prognoses in AChR-Ab positive very-late-onset myasthenia gravis patients Open
Background: Very-late-onset myasthenia gravis (VLOMG) refers to myasthenia gravis (MG) with onset at age 65 or older. Current research on VLOMG prognosis remains limited, especially regarding factors influencing outcomes. Objectives: To id…
View article: Per- and polyfluoroalkyl substances on the surface of children's feeding smocks: High-throughput characterization and implications for exposure assessment
Per- and polyfluoroalkyl substances on the surface of children's feeding smocks: High-throughput characterization and implications for exposure assessment Open
Surfaces of objects are notable reservoirs for per- and polyfluoroalkyl substances (PFASs), representing a significant source of human exposure. However, precise concentration profiles for high-contact surfaces are scarce, owing to the lac…
View article: Ckip-1 3’UTR alleviates prolonged sleep deprivation induced cardiac dysfunction by activating CaMKK2/AMPK/cTNI pathway
Ckip-1 3’UTR alleviates prolonged sleep deprivation induced cardiac dysfunction by activating CaMKK2/AMPK/cTNI pathway Open
View article: Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases Open
View article: Impaired gating of γ‐ and <scp>ε‐AChR</scp> respectively causes Escobar syndrome and fast‐channel myasthenia
Impaired gating of γ‐ and <span>ε‐AChR</span> respectively causes Escobar syndrome and fast‐channel myasthenia Open
Objective To dissect the kinetic defects of acetylcholine receptor (AChR) γ subunit variant in an incomplete form of the Escobar syndrome without pterygium and compare it with those of a variant of corresponding residue in the AChR ε subun…
View article: Comparison between mono‐tacrolimus and mono‐glucocorticoid in the treatment of myasthenia gravis
Comparison between mono‐tacrolimus and mono‐glucocorticoid in the treatment of myasthenia gravis Open
Objective Use of tacrolimus in mild to moderate myasthenia gravis (MG) is generally limited to glucocorticoid‐refractory cases; the advantage of mono‐tacrolimus over mono‐glucocorticoids is unknown. Methods We included mild to moderate MG …
View article: Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review Open
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of…
View article: Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype
Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype Open
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease, characterized by a great variety of both clinical presentations and genetic causes. Previous studies had identified two different missense mutations in SO…
View article: Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy
Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy Open
A 29-year-old female experienced chronic progressive peripheral neuropathy since childhood and was diagnosed with Charcot–Marie–Tooth disease (CMT) at age 15. She developed recurrent, fever-induced rhabdomyolysis (RM) at age 24. EMG studie…
View article: Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia
Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia Open
This study provides Class IV evidence that channel blocker therapy in patients with SCCMS improves symptoms.
View article: A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating Open
View article: Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner
Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner Open
Congenital myasthenic syndromes (CMS) are caused by mutations in molecules expressed at the neuromuscular junction. We report clinical, structural, ultrastructural, and electrophysiologic features of 4 CMS patients with 6 heteroallelic var…
View article: Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit
Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit Open
Objective To characterize the molecular and phenotypic basis of a severe slow‐channel congenital myasthenic syndrome (SCCMS). Methods Intracellular and single‐channel recordings from patient endplates; alpha‐bungarotoxin binding studies; d…
View article: A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission Open
View article: Presence of antibodies against low-density lipoprotein receptor-related protein 4 and impairment of neuromuscular junction in a Chinese cohort of amyotrophic lateral sclerosis
Presence of antibodies against low-density lipoprotein receptor-related protein 4 and impairment of neuromuscular junction in a Chinese cohort of amyotrophic lateral sclerosis Open
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View article: Low-dose PCB126 compromises circadian rhythms associated with disordered glucose and lipid metabolism in mice
Low-dose PCB126 compromises circadian rhythms associated with disordered glucose and lipid metabolism in mice Open
View article: Corrigendum to “Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up” [Neuromuscular Disorders 28/4 (2018) 315–322]
Corrigendum to “Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up” [Neuromuscular Disorders 28/4 (2018) 315–322] Open
View article: Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit
Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit Open
We identify 2 homozygous mutations in the ε-subunit of the muscle acetylcholine receptor (AChR) in 3 patients with severe congenital myasthenia: εR218W in the pre-M1 region in 2 patients and εE184K in the β8-β9 linker in 1 patient. Arg218 …
View article: The unfolding landscape of the congenital myasthenic syndromes
The unfolding landscape of the congenital myasthenic syndromes Open
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next‐generation sequencing methods, the discover…
View article: Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome
Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome Open
Objective To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. Methods We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences …
View article: Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia Open
Loss of Munc13-1 function predicts that syntaxin 1B is consigned to a nonfunctional closed state; this inhibits cholinergic transmission at the neuromuscular junction and glutamatergic transmission in the brain. Inactivation of syntaxin 1B…
View article: Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating Open
We identify two novel mutations in acetylcholine receptor (AChR) causing a slow-channel congenital myasthenia syndrome (CMS) in three unrelated patients (Pts). Pt 1 harbors a heterozygous βV266A mutation (p.Val289Ala) in the second transme…
View article: Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates
Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates Open
We identify two heteroallelic mutations in the acetylcholine receptor δ-subunit from a patient with severe myasthenic symptoms since birth: a novel δD140N mutation in the signature Cys-loop and a mutation in intron 7 of the δ-subunit gene …
View article: Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia Open
We identified a second CMS kinship harboring mutations in LRP4, identified the mechanisms that impair neuromuscular transmission, and mitigated the disease by appropriate therapy.
View article: Corrections
Corrections Open
View article: Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Open