Congenital myasthenic syndromes:gene mutations

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Bacterial constipation: Mucin-degrading intestinal commensal bacteria cause constipation.

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Piper rhythm-like electromyographical activity in muscle stiffness in sodium channel myotonia representing potassium-aggravated myotonia and myotonia permanens.

Journal of neurophysiology·2025

The Rieske iron-sulfur protein is a primary target of molecular hydrogen.

Redox biology·2025

Linking diet, gut microbiota, and metabolites to Parkinson's disease risk: a shotgun metagenomic comparison of Japanese and Taiwanese cohorts.

Journal of neural transmission (Vienna, Austria : 1996)·2025

Association between postoperative peripheral blood CD3+ T-cell percentage and recurrence after thymectomy in non-thymomatous myasthenia gravis: a retrospective cohort study.

Neuromuscular disorders : NMD·2026

Evaluation of antibody reactivity to dystrophin products: does Dp40 really exist?

Neuromuscular disorders : NMD·2026

Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1.

Neuromuscular disorders : NMD·2026

Differential expression of microRNAs and other small RNAs in the serum of patients with myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy type 1.

Neuromuscular disorders : NMD·2026

A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.

Neuromuscular disorders : NMD·2026

Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approach.

Neuromuscular disorders : NMD·2026

Synergistic cell-cycle repression by HDAC/EZH2 co-targeting in H3K27-altered diffuse midline glioma.

Molecular therapy. Oncology·2026

In-depth characterization of stem cell potency and genotoxicity for clinical-scale ex vivo CRISPR-Cas9 gene editing.

Molecular therapy. Advances·2026

m6A-dependent regulation of DGUOK-AS1 by RBM15 and HNRNPH1 in lung adenocarcinoma.

iScience·2026

Metabolic reprogramming in pancreatic cancer: interplay of glucose, lipid, and amino acid metabolism in tumor progression.

Cytotechnology·2026

Baicalein targets the Nrf2/Keap1 interaction and related stress pathways to mitigate drug-induced toxicity and reverse resistance in breast cancer: A review.

International journal of biological macromolecules·2026

Exosomes as next-generation drug carriers: Transforming cancer therapy.

Journal of controlled release : official journal of the Controlled Release Society·2026

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Congenital myasthenic syndromes:gene mutations

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Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1.

A Preliminary Open-Label Pilot Study of a Pillow-Based ELF-ELME (Extremely Low-Frequency, Extremely Low Magnetic Environment) Intervention for Major Depressive Disorder.

Bacterial constipation: Mucin-degrading intestinal commensal bacteria cause constipation.

Piper rhythm-like electromyographical activity in muscle stiffness in sodium channel myotonia representing potassium-aggravated myotonia and myotonia permanens.

The Rieske iron-sulfur protein is a primary target of molecular hydrogen.

Linking diet, gut microbiota, and metabolites to Parkinson's disease risk: a shotgun metagenomic comparison of Japanese and Taiwanese cohorts.

Association between postoperative peripheral blood CD3+ T-cell percentage and recurrence after thymectomy in non-thymomatous myasthenia gravis: a retrospective cohort study.

Evaluation of antibody reactivity to dystrophin products: does Dp40 really exist?

Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1.

Differential expression of microRNAs and other small RNAs in the serum of patients with myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy type 1.

A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.

Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approach.

Synergistic cell-cycle repression by HDAC/EZH2 co-targeting in H3K27-altered diffuse midline glioma.

In-depth characterization of stem cell potency and genotoxicity for clinical-scale ex vivo CRISPR-Cas9 gene editing.

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Metabolic reprogramming in pancreatic cancer: interplay of glucose, lipid, and amino acid metabolism in tumor progression.

Baicalein targets the Nrf2/Keap1 interaction and related stress pathways to mitigate drug-induced toxicity and reverse resistance in breast cancer: A review.

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Congenital myasthenic syndromes:gene mutations

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