Works matching DE "CONGENITAL myasthenic syndromes"
Results: 178
Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.
- Published in:
- Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf046
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- Publication type:
- Article
Correction to: Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 7, p. 3555, doi. 10.1007/s10072-024-07420-z
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- Publication type:
- Article
Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.
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- Neurological Sciences, 2021, v. 42, n. 8, p. 3485, doi. 10.1007/s10072-020-05021-0
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- Publication type:
- Article
Favorable outcome of COVID-19 infection in a patient with congenital myasthenic syndrome.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 4, p. 1253, doi. 10.1007/s10072-021-05057-w
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- Publication type:
- Article
Salbutamol as effective treatment in slow-channel syndrome- first report.
- Published in:
- 2021
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- Publication type:
- Letter
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
- Published in:
- 2019
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- Publication type:
- journal article
Clinical and genetic characterization of an Italian family with slow-channel syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 176, doi. 10.3390/brainsci12020176
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- Publication type:
- Article
A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1252, doi. 10.3390/biom14101252
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- Publication type:
- Article
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea.
- Published in:
- Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00259
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- Publication type:
- Article
LRP4 Is Critical for Neuromuscular Junction Maintenance.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 42, p. 13892, doi. 10.1523/JNEUROSCI.1733-14.2014
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- Publication type:
- Article
A Single Mutation in the Acetylcholine Receptor Subunit Causes Distinct Effects in Two Types of Neuromuscular Synapses.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 31, p. 10211, doi. 10.1523/JNEUROSCI.0426-14.2014
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- Publication type:
- Article
Myasthenia in Children.
- Published in:
- Developmental Medicine & Child Neurology, 2020, v. 62, n. 8, p. 999, doi. 10.1111/dmcn.14516
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- Publication type:
- Article
Limb girdle weakness responding to salbutamol: An Indian family with DOK7 mutation.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 3, p. 243, doi. 10.1007/s13312-015-0616-z
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- Publication type:
- Article
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
- Published in:
- Molecular Medicine, 2019, v. 26, n. 1, p. 1, doi. 10.1186/s10020-019-0129-7
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- Publication type:
- Article
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin.
- Published in:
- Human Genetics, 2012, v. 131, n. 7, p. 1123, doi. 10.1007/s00439-011-1132-4
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- Publication type:
- Article
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
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- Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3308, doi. 10.3390/jcm12093308
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- Publication type:
- Article
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
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- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3724, doi. 10.3390/jcm9113724
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- Publication type:
- Article
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.
- Published in:
- Biomedicines, 2024, v. 12, n. 11, p. 2549, doi. 10.3390/biomedicines12112549
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- Publication type:
- Article
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.
- Published in:
- Biomedicines, 2023, v. 11, n. 11, p. 2983, doi. 10.3390/biomedicines11112983
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- Publication type:
- Article
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2409
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- Publication type:
- Article
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.
- Published in:
- 2023
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- Publication type:
- Case Study
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1144
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- Publication type:
- Article
Paediatric Neurology: Current Trends, Rehabilitation, and Future Challenges.
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- Journal of Personalized Medicine, 2024, v. 14, n. 1, p. 77, doi. 10.3390/jpm14010077
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- Publication type:
- Article
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
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- Journal of Personalized Medicine, 2023, v. 13, n. 5, p. 798, doi. 10.3390/jpm13050798
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- Publication type:
- Article
A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function.
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- G3: Genes | Genomes | Genetics, 2021, v. 11, n. 4, p. 1, doi. 10.1093/g3journal/jkab047
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- Publication type:
- Article
Unusual presentation of uncommon cause of ptosis.
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- Journal of Paediatrics & Child Health, 2023, v. 59, n. 3, p. 560, doi. 10.1111/jpc.16321
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- Publication type:
- Article
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
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- European Journal of Neurology, 2022, v. 29, n. 3, p. 833, doi. 10.1111/ene.15173
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- Publication type:
- Article
Topical Symposia.
- Published in:
- European Journal of Neurology, 2021, v. 28, p. 44, doi. 10.1111/ene.14971
- Publication type:
- Article
Response to Finsterer and colleagues on 'Prospective studies on the efficacy of rituximab for myasthenia gravis are warranted'.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 12, p. e94, doi. 10.1111/ene.14460
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- Publication type:
- Article
Congenital myasthenic syndrome due to <italic>DPAGT1</italic> mutations mimicking congenital myopathy in an Irish family.
- Published in:
- European Journal of Neurology, 2018, v. 25, n. 2, p. e22, doi. 10.1111/ene.13532
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- Publication type:
- Article
Posters on Display.
- Published in:
- European Journal of Neurology, 2017, v. 24, p. 679, doi. 10.1111/ene.13369
- Publication type:
- Article
Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report.
- Published in:
- SAGE Open Medical Case Reports, 2023, p. 1, doi. 10.1177/2050313X231211047
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- Publication type:
- Article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
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- Publication type:
- Article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
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- Publication type:
- Article
Congenital Myasthenic Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications.
- Published in:
- Diagnostics (2075-4418), 2025, v. 15, n. 3, p. 235, doi. 10.3390/diagnostics15030235
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- Publication type:
- Article
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3481, doi. 10.3390/cells10123481
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- Publication type:
- Article
RNA Targeting in Inherited Neuromuscular Disorders: Novel Therapeutic Strategies to Counteract Mis-Splicing.
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- Cells (2073-4409), 2021, v. 10, n. 11, p. 2850, doi. 10.3390/cells10112850
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- Publication type:
- Article
Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 8, p. 848, doi. 10.3390/cells8080848
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- Publication type:
- Article
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 372, doi. 10.3390/genes14020372
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- Publication type:
- Article
Special Issue "Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy".
- Published in:
- 2021
- By:
- Publication type:
- Editorial
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1519, doi. 10.3390/genes11121519
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- Publication type:
- Article
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
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- Publication type:
- Article
Congenital nystagmus and central hypothyroidism.
- Published in:
- International Journal of Pediatric Endocrinology, 2015, v. 2015, n. 1, p. 1, doi. 10.1186/s13633-015-0003-5
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- Publication type:
- Article
Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype.
- Published in:
- Neurology Asia, 2024, v. 29, n. 2, p. 397, doi. 10.54029/2024ifk
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- Publication type:
- Article
Neuromuscular diseases in the pediatric intensive care unit: 11 years of experience from a tertiary children's hospital.
- Published in:
- Neurology Asia, 2022, v. 27, n. 2, p. 327, doi. 10.54029/2022nea
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- Publication type:
- Article
A novel mutation of the COLQ gene causes congenital myasthenic syndromes: A case report.
- Published in:
- Neurology Asia, 2021, v. 26, n. 4, p. 845, doi. 10.54029/2021mue
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- Publication type:
- Article
Congenital Myasthenic Syndrome: case study from a tertiary care institute of Western India.
- Published in:
- 2023
- By:
- Publication type:
- Case Study