Disease: Myasthenic syndrome- congenital- slow-channel
- <em>COLQ</em>-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature
- 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands
- 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Naarden, The Netherlands
- A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
- A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome
- A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
- 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
- Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence
- Anesthetic Management of a Child with Congenital Myasthenic Syndrome for Stereotactic Brain Biopsy in the Setting of Day Care Surgery
- Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome
- Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2
- Can Scoliosis Help the Early Diagnosis of Congenital Myasthenic Syndrome?
- Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
- Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases
- Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review
- Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes
- Coexistence of Congenital Myasthenic Syndrome and Schizophrenia: Could There be a Genetic Link?
- Cogan's Lid Twitch Sign in a Child with Congenital Myasthenia
- COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
- COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature
- COLQ-related congenital myasthenic syndrome: An integrative view
- Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy
- Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation
- Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature
- Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families
- Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy
- Congenital myasthenic syndrome due to a genetic mutation
- Congenital myasthenic syndrome from a MUSK gene mutation
- Congenital Myasthenic Syndrome With Malignant Hyperthermia Susceptibility in a Child Undergoing Adenotonsillectomy for Obstructive Sleep Apnea: A Case Report
- Congenital Myasthenic Syndromes
- Congenital myasthenic syndromes
- Congenital myasthenic syndromes
- Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
- Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients
- Congenital myasthenic syndromes in two male siblings born to healthy consanguineous parents: a case report
- Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor
- Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre
- Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
- Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature
- Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes
- DOK7 congenital myasthenic syndrome: case series and review of literature
- Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia
- Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
- Electrophysiological evaluation of the neuromuscular junction: a brief review
- Exome sequencing and microarray identified a novel large exonic deletion in <em>SYT2</em> gene in an ultra-rare case with recessive CMS type 7
- Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
- Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients
- Expression assay of the <em>COLQ</em> in a family with congenital myasthenic syndrome and symptomatic carriers
- Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers
- From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK
- Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene
- Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey
- Guideline for the management of myasthenic syndromes
- Homozygous Duplication in the <em>CHRNE</em> in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
- Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
- Immune mediated myasthenia gravis in children, current concepts and new treatments: A narrative review article
- Impaired gating of gamma- and epsilon-AChR respectively causes Escobar syndrome and fast-channel myasthenia
- Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia
- Independent CHRNE mutations at serine 503 in English Springer Spaniels and a Smooth Fox Terrier having congenital myasthenic syndrome
- Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes
- Juvenile Myasthenia Gravis in North Texas: Clinical Features, Treatment Response, and Outcomes
- Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
- LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17
- LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
- Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
- Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
- Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- Myasthenia gravis and congenital myasthenic syndromes
- Myasthenia in adults, children, and adolescents: what's new?
- Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options
- Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms
- Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
- New Multitarget Molecules Derived from Caffeine as Potentiators of the Cholinergic System
- New mutation in the beta1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome
- New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome
- NMJ-related diseases beyond the congenital myasthenic syndromes
- Novel compound heterozygous mutations in <em>SCN4A</em> as a potential genetic cause contributing to myopathic manifestations: A case report and literature review
- Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature
- Pathophysiology of Childhood-Onset Myasthenia: Abnormalities of Neuromuscular Junction and Autoimmunity and Its Background
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by <em>COLQ</em> Mutations
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
- Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
- Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene
- Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
- Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
- Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians
- Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α1<sub>2</sub>β1δε
- Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α1<sub>2</sub>β1δε
- Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes
- Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
- The MuSK-BMP pathway regulates synaptic Nav1.4 localization and muscle excitability
- The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
- Two patients with congenital myasthenic syndrome caused by <em>COLQ</em> gene mutations and the consequent ColQ protein defect
- Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect
- VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
- Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutation