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Dataset results
12 results for “congenital myasthenic syndrome”
A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
ClinicalTrials.gov study NCT06630650. IPD Sharing: NO. Countries: 1. Publications: 37.
Data from: Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a proline residue within the C2B Ca2+-binding pocket of synaptotagmin is replaced by a leucine. The functional significance of this residue has not been investigated previously. Here we show that in silico modeling predicts disruption of the C2B Ca2+-binding pocket, and we examine the in vivo effects of the homologous mutation in Drosophila. When expressed in the absence of native synaptotagmin, this mutation is lethal, demonstrating for the first time that this residue plays a critical role in synaptotagmin function. To achieve expression similar to human patients, the mutation is expressed in flies carrying one copy of the wild type synaptotagmin gene. We now show that Drosophila carrying this mutation developed neurological and behavioral manifestations similar to those of human patients and provide insight into the mechanisms underlying these deficits. Our Drosophila studies support a role for this synaptotagmin point mutation in disease etiology.
Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes
ClinicalTrials.gov study NCT02562066. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Data from: Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
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A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
ClinicalTrials.gov study NCT06078553. IPD Sharing: Not stated. Countries: 9. Publications: 0.
Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes
ClinicalTrials.gov study NCT01203592. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Patients With Congenital Myasthenic Syndrome Will be Treated With Mesenchymal Stem Cell Exosome Solution
ClinicalTrials.gov study NCT07226726. IPD Sharing: Not stated. Countries: 2. Publications: 0.
A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS)
ClinicalTrials.gov study NCT06436742. IPD Sharing: NO. Countries: 6. Publications: 0.
3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)
ClinicalTrials.gov study NCT02012933. IPD Sharing: Not stated. Countries: 1. Publications: 0.
3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)
ClinicalTrials.gov study NCT00872950. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome
ClinicalTrials.gov study NCT02189720. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
GEO Series GSE261165. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
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Annotated Behaviour and Observability Dataset (ABODe)
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