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Clinical and research strategies for limb‐girdle congenital myasthenic syndromes.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1412, n. 1, p. 102, doi. 10.1111/nyas.13520
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- Publication type:
- Article
Fluorescent and Water Dispersible Single‐Chain Nanoparticles: Core–Shell Structured Compartmentation.
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- Angewandte Chemie, 2021, v. 133, n. 14, p. 7899, doi. 10.1002/ange.202015179
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- Publication type:
- Article
Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.
- Published in:
- Archives of Gynecology & Obstetrics, 2013, v. 288, n. 5, p. 1153, doi. 10.1007/s00404-013-2861-5
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- Publication type:
- Article
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 5, p. 335, doi. 10.5414/NP300742
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- Publication type:
- Article
An experimental and theoretical characterization of the electronic structure of doubly ionised disulfur.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16327-8
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- Publication type:
- Article
Regulatory Function of Sympathetic Innervation on the Endo/Lysosomal Trafficking of Acetylcholine Receptor.
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.626707
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- Publication type:
- Article
Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00562
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- Publication type:
- Article
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00470
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- Publication type:
- Article
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.
- Published in:
- Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00348-0
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- Publication type:
- Article
Introduction: The Materiality of the Immaterial: ICTs and the Digital Commons.
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- TripleC (Cognition, Communication, Co-Operation): Open Access Journal for a Global Sustainable Information Society, 2016, v. 14, n. 1, p. 48, doi. 10.31269/triplec.v14i1.738
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- Publication type:
- Article
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. e45, doi. 10.1093/brain/awae099
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- Publication type:
- Article
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4200, doi. 10.1093/brain/awad152
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- Publication type:
- Article
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
- Published in:
- 2022
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- Publication type:
- journal 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
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
- Published in:
- Journal of Pathology, 2022, v. 256, n. 1, p. 93, doi. 10.1002/path.5812
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- Publication type:
- Article
Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6808, doi. 10.3390/ijms24076808
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- Publication type:
- Article
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7835, doi. 10.3390/ijms22157835
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- Publication type:
- Article
Access to New Cytotoxic Triterpene and Steroidal Acid-TEMPO Conjugates by Ugi Multicomponent-Reactions †.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7125, doi. 10.3390/ijms22137125
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- Publication type:
- Article
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 12, p. 4072, doi. 10.3390/ijms19124072
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- Publication type:
- Article
Tuning the Internal Compartmentation of Single‐Chain Nanoparticles as Fluorescent Contrast Agents.
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- Macromolecular Rapid Communications, 2023, v. 44, n. 2, p. 1, doi. 10.1002/marc.202200618
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- Publication type:
- Article
Tuning the Internal Compartmentation of Single‐Chain Nanoparticles as Fluorescent Contrast Agents.
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- Macromolecular Rapid Communications, 2023, v. 44, n. 2, p. 1, doi. 10.1002/marc.202200618
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- Publication type:
- Article
Hybrid reflected‐ultrasound computed tomography versus B‐mode‐ultrasound for muscle scoring in spinal muscular atrophy.
- Published in:
- Journal of Neuroimaging, 2023, v. 33, n. 3, p. 393, doi. 10.1111/jon.13081
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- Publication type:
- Article
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1767
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- Publication type:
- Article
Quantitative muscle MRI captures early muscle degeneration in calpainopathy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23972-6
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- Publication type:
- Article
Adding historical high-sensitivity troponin T results to rule out acute myocardial infarction.
- Published in:
- European Heart Journal: Acute Cardiovascular Care, 2022, v. 11, n. 3, p. 215, doi. 10.1093/ehjacc/zuab123
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- Publication type:
- Article
A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 283, doi. 10.1002/ajmg.a.62494
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- Publication type:
- Article
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1216, doi. 10.1002/ajmg.a.62070
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- Publication type:
- Article
SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India.
- Published in:
- 2014
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- Publication type:
- Case Study
Biochemical and pathological changes result from mutated Caveolin-3 in muscle.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0173-y
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- Publication type:
- Article
Performance of the GRACE 2.0 score in patients with type 1 and type 2 myocardial infarction.
- Published in:
- European Heart Journal, 2021, v. 42, n. 26, p. 2552, doi. 10.1093/eurheartj/ehaa375
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- Publication type:
- Article
GNE myopathy: from clinics and genetics to pathology and research strategies.
- Published in:
- 2018
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- Publication type:
- journal article
Novel FHL1 mutation in a family with reducing body myopathy.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 1, p. 127, doi. 10.1002/mus.23500
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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
Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01040
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- Publication type:
- Article
Proteome-wide detection of S-nitrosylation targets and motifs using bioorthogonal cleavable-linker-based enrichment and switch technique.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10182-4
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- Publication type:
- Article
A Review of Policy-Based Resource and Admission Control Functions in Evolving Access and Next Generation Networks.
- Published in:
- Journal of Network & Systems Management, 2008, v. 16, n. 1, p. 14, doi. 10.1007/s10922-007-9096-3
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- Publication type:
- Article
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01662-2
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- Publication type:
- Article
Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12920
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- Publication type:
- Article
Molecular mechanisms in chloroquine‐exposed muscle cells elucidated by combined proteomic and microscopic studies.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12877
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- Publication type:
- Article
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 856, doi. 10.1111/nan.12730
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- Publication type:
- Article
Molecular pathophysiology of human MICU1 deficiency.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 840, doi. 10.1111/nan.12694
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- Publication type:
- Article
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
- Published in:
- 2022
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- Publication type:
- journal article
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
- By:
- Publication type:
- Article
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
- Published in:
- 2010
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- Publication type:
- journal article
SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 8, p. 2462, doi. 10.1093/brain/awq168
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- Publication type:
- Article
Management and outcomes of patients with chest pain and psychiatric disorders in the era of high‐sensitivity cardiac troponins.
- Published in:
- Journal of Internal Medicine, 2023, v. 293, n. 4, p. 481, doi. 10.1111/joim.13598
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- Publication type:
- Article
Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.
- Published in:
- Children, 2021, v. 8, n. 9, p. 1, doi. 10.3390/children8090721
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- Publication type:
- Article
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1131, doi. 10.3233/JND-240050
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- Publication type:
- Article