Found: 33
Select item for more details and to access through your institution.
Further Observations in Congenital Myasthenic Syndromes.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1132, p. 104, doi. 10.1196/annals.1405.039
- By:
- Publication type:
- Article
Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures.
- Published in:
- Pediatric Anesthesia, 2013, v. 23, n. 9, p. 855, doi. 10.1111/pan.12248
- By:
- Publication type:
- Article
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3730, doi. 10.3390/ijms24043730
- By:
- Publication type:
- Article
Proteomic profiling of sporadic late‐onset nemaline myopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 391, doi. 10.1002/acn3.51527
- By:
- Publication type:
- Article
Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 2066, doi. 10.1002/acn3.50902
- By:
- Publication type:
- Article
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 2, p. 130, doi. 10.1002/acn3.387
- By:
- Publication type:
- Article
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 8, p. 889, doi. 10.1001/jamaneurol.2015.0853
- By:
- Publication type:
- Article
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.
- Published in:
- 2015
- By:
- Publication type:
- Letter
The unfolding landscape of the congenital myasthenic syndromes.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 25, doi. 10.1111/nyas.13539
- By:
- Publication type:
- Article
New horizons for congenital myasthenic syndromes.
- Published in:
- Annals of the New York Academy of Sciences, 2012, v. 1275, n. 1, p. 54, doi. 10.1111/j.1749-6632.2012.06803.x
- By:
- Publication type:
- Article
Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 732, doi. 10.1002/acn3.51756
- By:
- Publication type:
- Article
SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1406819
- By:
- Publication type:
- Article
BAG3 mutations: another cause of giant axonal neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 210, doi. 10.1111/j.1529-8027.2012.00409.x
- By:
- Publication type:
- Article
Poster 465 Bilateral Hand Weakness and Atrophy in a Teenager: A Case Report.
- Published in:
- PM & R: Journal of Injury, Function & Rehabilitation, 2016, v. 8, n. 9, p. S312, doi. 10.1016/j.pmrj.2016.07.386
- By:
- Publication type:
- Article
Poster 465 Bilateral Hand Weakness and Atrophy in a Teenager: A Case Report.
- Published in:
- PM & R: Journal of Injury, Function & Rehabilitation, 2016, v. 8, p. S312, doi. 10.1016/j.pmrj.2016.07.386
- By:
- Publication type:
- Article
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 22, doi. 10.1002/jmd2.12114
- By:
- Publication type:
- Article
Microvascular alterations and the role of complement in dermatomyositis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 2, p. 439, doi. 10.1093/brain/awh052
- By:
- Publication type:
- Article
What Have We Learned from the Congenital Myasthenic Syndromes.
- Published in:
- Journal of Molecular Neuroscience, 2010, v. 40, n. 1/2, p. 143, doi. 10.1007/s12031-009-9229-0
- By:
- Publication type:
- Article
Eosinophilic fasciitis with subjacent myositis.
- Published in:
- 2017
- By:
- Publication type:
- case study
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 789, doi. 10.1002/mus.22176
- By:
- Publication type:
- Article
Pathology of skeletal muscle, 2nd edition, edited by Stirling Carpenter and George Karpati, 662 pp., ill., New York, Oxford University Press, 2001, $195.
- Published in:
- Muscle & Nerve, 2002, v. 26, n. 1, p. 150, doi. 10.1002/mus.10137
- By:
- Publication type:
- Article
Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome?
- Published in:
- 2001
- By:
- Publication type:
- journal article
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 5, p. 866, doi. 10.1002/ana.22331
- By:
- Publication type:
- Article
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 1, p. 83, doi. 10.1002/ana.21553
- By:
- Publication type:
- Article
Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 1, p. 71, doi. 10.1002/ana.21408
- By:
- Publication type:
- Article
Mutations in ZASP define a novel form of muscular dystrophy in humans.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 2, p. 269
- By:
- Publication type:
- Article
Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutations.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 804
- By:
- Publication type:
- Article
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280
- By:
- Publication type:
- Article
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 8, p. 889, doi. 10.1001/jamaneurol.2015.0853
- By:
- Publication type:
- Article