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Diagnostic utility of cortactin antibodies in myasthenia gravis.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1412, n. 1, p. 90, doi. 10.1111/nyas.13502
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- Publication type:
- Article
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1289, doi. 10.15252/emmm.201505815
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- Publication type:
- Article
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.
- Published in:
- Arthritis Research & Therapy, 2017, v. 19, p. 1, doi. 10.1186/s13075-017-1383-0
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- Publication type:
- Article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
- Published in:
- 2012
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- Publication type:
- journal article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
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- Publication type:
- Article
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.
- Published in:
- 2018
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- Publication type:
- journal article
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
- Published in:
- 2020
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- Publication type:
- journal article
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 465, doi. 10.1038/jhg.2014.43
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- Publication type:
- Article
Altered RIG-I/ DDX58-mediated innate immunity in dermatomyositis.
- Published in:
- Journal of Pathology, 2014, v. 233, n. 3, p. 258, doi. 10.1002/path.4346
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- Publication type:
- Article
The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.
- Published in:
- Journal of Pathology, 2012, v. 228, n. 4, p. 544, doi. 10.1002/path.4083
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- Publication type:
- Article
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.659922
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- Publication type:
- Article
Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091927
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- Publication type:
- Article
Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029061
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- Publication type:
- Article
Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A.
- Published in:
- PLoS ONE, 2008, v. 3, n. 11, p. 1, doi. 10.1371/journal.pone.0003750
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- Publication type:
- Article
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 5, p. 568, doi. 10.1002/mus.27523
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- Publication type:
- Article
Mcleod syndrome is a new cause of axial muscle weakness.
- Published in:
- 2018
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- Publication type:
- Case Study
Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 839, doi. 10.1002/mus.22172
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- Publication type:
- Article
Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient.
- Published in:
- Muscle & Nerve, 2009, v. 39, n. 3, p. 386, doi. 10.1002/mus.21171
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- Publication type:
- Article
Chronic sensorimotor polyradiculopathy with antibodies to P2: An electrophysiological and immunoproteomic analysis.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 1, p. 933, doi. 10.1002/mus.20999
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- Publication type:
- Article
Antibodies against disialosyl and terminal NeuNAc( α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 5, p. 764, doi. 10.1007/s00415-008-0803-0
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- Publication type:
- Article
Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10438-z
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- Publication type:
- Article
Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10438-z
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- Publication type:
- Article
1α,25(OH)<sub>2</sub>-Vitamin D3 Increases Dysferlin Expression in vitro and in a Human Clinical Trial.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 10, p. 1988, doi. 10.1038/mt.2012.156
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- Publication type:
- Article
Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 9, p. 1099, doi. 10.1001/jamaneurol.2016.2032
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- Publication type:
- Article
Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61246-1
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- Publication type:
- Article
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00576
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- Publication type:
- Article
Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies.
- Published in:
- FASEB Journal, 2021, v. 35, n. 9, p. 1, doi. 10.1096/fj.202100588R
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- Publication type:
- Article
Autoantibody screening in Guillain-Barré syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Identification of serum microRNAs as potential biomarkers in Pompe disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1214, doi. 10.1002/acn3.50800
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- Publication type:
- Article
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 5, p. 559, doi. 10.1002/acn3.554
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- Publication type:
- Article
Muscle MRI in muscular dystrophies.
- Published in:
- Acta Myologica, 2015, v. 34, n. 2/3, p. 95
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- Publication type:
- Article
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 3, p. 370, doi. 10.1002/ana.23794
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- Publication type:
- Article
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.
- Published in:
- 2002
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- Publication type:
- journal article
Inter-laboratory comparison of routine autoantibody detection methods for autoimmune neuropathies and myasthenia gravis.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 4119, doi. 10.1007/s00415-024-12317-0
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- Publication type:
- Article
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
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- Publication type:
- Article
Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 2, p. 960, doi. 10.1007/s00415-022-11447-7
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- Publication type:
- Article
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 7, p. 1, doi. 10.1038/s41419-018-0792-6
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- Publication type:
- Article
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163493
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- Publication type:
- Article
Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice.
- Published in:
- Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102629
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- Publication type:
- Article
Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 990, doi. 10.1002/humu.22591
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- Publication type:
- Article
PDGF-BB serum levels are decreased in adult onset Pompe patients.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38025-0
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- Publication type:
- Article
RhoA/ROCK2 signalling is enhanced by PDGF‐AA in fibro‐adipogenic progenitor cells: implications for Duchenne muscular dystrophy.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 2, p. 1373, doi. 10.1002/jcsm.12923
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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
Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype.
- Published in:
- Annals of Neurology, 2001, v. 49, n. 1, p. 130, doi. 10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0
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- Publication type:
- Article
Inclusion body myositis and paraproteinemia: Incidence and immunopathologic correlations.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 1, p. 100, doi. 10.1002/ana.410410116
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- Publication type:
- Article
Mild cholesterol depletion reduces amyloid-β production by impairing APP trafficking to the cell surface.
- Published in:
- Journal of Neurochemistry, 2009, v. 110, n. 1, p. 220, doi. 10.1111/j.1471-4159.2009.06126.x
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- Publication type:
- Article
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 1, p. 113, doi. 10.1111/jns.12425
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- Publication type:
- Article
Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 158, doi. 10.1111/j.1529-8027.2012.00407.x
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- Publication type:
- Article
Neuromuscular dysfunction in adult growth hormone deficiency.
- Published in:
- Clinical Endocrinology, 2003, v. 59, n. 4, p. 450, doi. 10.1046/j.1365-2265.2003.01866.x
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- Publication type:
- Article
Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
- Published in:
- Proteomics - Clinical Applications, 2009, v. 3, n. 4, p. 486, doi. 10.1002/prca.200800087
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- Publication type:
- Article