Research By Disease – CheckOrphan

Disease: Myasthenic syndrome- congenital- slow-channel

COLQ-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
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
Antibiotic neuromuscular junction myasthenic mimetics
Antibiotic neuromuscular junction myasthenic mimetics - Authors' reply
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: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases
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
Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
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 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 With Malignant Hyperthermia Susceptibility in a Child Undergoing Adenotonsillectomy for Obstructive Sleep Apnea: A Case Report
Congenital myasthenic syndrome: a tale of two siblings
Congenital Myasthenic Syndromes
Congenital myasthenic syndromes
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations
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
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 SYT2 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
Expression assay of the COLQ 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 and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Guideline for the management of myasthenic syndromes
Homozygous Duplication in the CHRNE 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
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
Juvenile Myasthenia Gravis in North Texas: Clinical Features, Treatment Response, and Outcomes
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation
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
Motor neuron, peripheral nerve, and neuromuscular junction disorders
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 SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
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 COLQ 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
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
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 α12β1δε
Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α12β1δε
Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes
Severe congenital myasthenic syndrome with novel variants in the CHRND gene
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
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 COLQ 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
Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutation