Works matching DE "CONGENITAL myasthenic syndromes"
Results: 178
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
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- Acta Neuropathologica, 2022, v. 144, n. 4, p. 707, doi. 10.1007/s00401-022-02475-8
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- Article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 176, doi. 10.3390/brainsci12020176
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- 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).
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- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1252, doi. 10.3390/biom14101252
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- Article
Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1<sup>−/−</sup> mouse model of collagen VI‐related myopathies.
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- Clinical & Translational Medicine, 2024, v. 14, n. 7, p. 1, doi. 10.1002/ctm2.1688
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- Article
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.
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- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00198
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- Article
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
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- Genes, 2023, v. 14, n. 2, p. 372, doi. 10.3390/genes14020372
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- Article
Special Issue "Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy".
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- 2021
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- 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.
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- Genes, 2020, v. 11, n. 12, p. 1519, doi. 10.3390/genes11121519
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- Article
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
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- Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
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- Article
Diagnóstico y seguimiento prenatal de pacientes con onfalocele.
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- Ginecología y Obstetricia de México, 2020, v. 88, n. 11, p. 756, doi. 10.24245/gom.v88i11.4177
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- Article
Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction.
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- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.797832
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- Article
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16217, doi. 10.3390/ijms242216217
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- Article
Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8505, doi. 10.3390/ijms24108505
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- Article
TOR1AIP1 -Associated Nuclear Envelopathies.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 6911, doi. 10.3390/ijms24086911
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- Article
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review.
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- 2023
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- Publication type:
- Literature Review
Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.
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- 2023
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- Literature Review
Molecular Research on Muscle Protein and Myopathies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7098, doi. 10.3390/ijms23137098
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- Article
The Neuromuscular Junction: Roles in Aging and Neuromuscular Disease.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8058, doi. 10.3390/ijms22158058
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- Article
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2455, doi. 10.3390/ijms22052455
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- Article
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1677, doi. 10.3390/ijms19061677
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- Article
Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 5, p. 1326, doi. 10.3390/ijms19051326
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- Article
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.
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- 2017
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- Case Study
GPs should be vigilant for acute deterioration in myasthenia gravis.
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- Practitioner, 2020, v. 264, n. 1840, p. 15
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- Article
Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 732, doi. 10.1002/acn3.51756
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- Article
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 898, doi. 10.1002/acn3.51346
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- Article
Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 2066, doi. 10.1002/acn3.50902
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- Article
Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1062, doi. 10.1002/acn3.787
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- Article
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 2, p. 130, doi. 10.1002/acn3.387
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- Article
ARGX-119 is an agonist antibody for human MuSK that reverses disease relapse in a mouse model of congenital myasthenic syndrome.
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- Science Translational Medicine, 2024, v. 16, n. 765, p. 1, doi. 10.1126/scitranslmed.ado7189
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- 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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- Article
Topical Symposia.
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- European Journal of Neurology, 2021, v. 28, p. 44, doi. 10.1111/ene.14971
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- Article
Response to Finsterer and colleagues on 'Prospective studies on the efficacy of rituximab for myasthenia gravis are warranted'.
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- European Journal of Neurology, 2020, v. 27, n. 12, p. e94, doi. 10.1111/ene.14460
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- Article
Congenital myasthenic syndrome due to <italic>DPAGT1</italic> mutations mimicking congenital myopathy in an Irish family.
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- European Journal of Neurology, 2018, v. 25, n. 2, p. e22, doi. 10.1111/ene.13532
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- Article
Posters on Display.
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- European Journal of Neurology, 2017, v. 24, p. 679, doi. 10.1111/ene.13369
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- Article
Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians.
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- Acta Paediatrica, 2023, v. 112, n. 11, p. 2434, doi. 10.1111/apa.16945
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- Article
Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes.
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- Acta Paediatrica, 2023, v. 112, n. 5, p. 1091, doi. 10.1111/apa.16688
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- Article
ClC‐1 Cl<sup>−</sup> channels as modulators of signal transmission at neuromuscular junction.
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- Acta Physiologica, 2021, v. 233, n. 2, p. 1, doi. 10.1111/apha.13718
- Publication type:
- Article
LRP4 Is Critical for Neuromuscular Junction Maintenance.
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- Journal of Neuroscience, 2014, v. 34, n. 42, p. 13892, doi. 10.1523/JNEUROSCI.1733-14.2014
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- Article
A Single Mutation in the Acetylcholine Receptor Subunit Causes Distinct Effects in Two Types of Neuromuscular Synapses.
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- Journal of Neuroscience, 2014, v. 34, n. 31, p. 10211, doi. 10.1523/JNEUROSCI.0426-14.2014
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- Publication type:
- Article
Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7.
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- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01409-3
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- Publication type:
- Article
Limb girdle weakness responding to salbutamol: An Indian family with DOK7 mutation.
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- Indian Pediatrics, 2015, v. 52, n. 3, p. 243, doi. 10.1007/s13312-015-0616-z
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- Article
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1331, doi. 10.1007/s00415-023-12070-w
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- Publication type:
- Article
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
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- Journal of Neurology, 2023, v. 270, n. 6, p. 3112, doi. 10.1007/s00415-023-11643-z
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- Publication type:
- Article
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
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- Journal of Neurology, 2023, v. 270, n. 2, p. 909, doi. 10.1007/s00415-022-11440-0
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- Article
Salbutamol monotherapy in acetylcholine receptor deficiency-related congenital myasthenic syndrome due to CHRNE mutation.
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- Journal of Neurology, 2022, v. 269, n. 7, p. 3923, doi. 10.1007/s00415-022-11018-w
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- Article
Bedside and laboratory diagnostic testing in myasthenia.
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- 2022
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- Publication type:
- Literature Review
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
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- Journal of Neurology, 2019, v. 266, n. 5, p. 1107, doi. 10.1007/s00415-019-09239-7
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- Article
Update on muscle disease.
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- Journal of Neurology, 2018, v. 265, n. 7, p. 1717, doi. 10.1007/s00415-018-8856-1
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- Article
A common <italic>CHRNE</italic> mutation in Brazilian patients with congenital myasthenic syndrome.
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- Journal of Neurology, 2018, v. 265, n. 3, p. 708, doi. 10.1007/s00415-018-8736-8
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- Publication type:
- Article
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
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- Journal of Neurology, 2018, v. 265, n. 1, p. 194, doi. 10.1007/s00415-017-8689-3
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- Article