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Toll‐like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 11, doi. 10.1111/nyas.13534
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- Publication type:
- Article
Muscle MRI findings in facioscapulohumeral muscular dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients.
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- 2022
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- Publication type:
- journal article
Sixth cranial nerve palsy after first intrathecal nusinersen administration.
- Published in:
- 2022
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- Publication type:
- Letter
Iatrogenic Kaposi's sarcoma in myasthenia gravis: learnings from two case reports.
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- Neurological Sciences, 2021, v. 42, n. 5, p. 2081, doi. 10.1007/s10072-020-04971-9
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- Publication type:
- Article
Favorable outcome of COVID-19 infection in a patient with congenital myasthenic syndrome.
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- 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.
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- 2019
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- Publication type:
- journal article
Validity, reliability, and sensitivity to change of the myasthenia gravis activities of daily living profile in a sample of Italian myasthenic patients.
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- 2017
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- Publication type:
- journal article
Percutaneous vertebroplasty in a series of myasthenic patients with steroid-induced symptomatic vertebral fractures.
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- Neurological Sciences, 2013, v. 34, n. 5, p. 773, doi. 10.1007/s10072-013-1417-6
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- Publication type:
- Article
Concordance between severity of disease, disability and health-related quality of life in Myasthenia gravis.
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- Neurological Sciences, 2010, v. 31, n. 1, p. 41, doi. 10.1007/s10072-009-0167-y
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- Publication type:
- Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Publication type:
- Article
Toll‐like receptors and IL‐7 as potential biomarkers for immune‐mediated necrotizing myopathies.
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- European Journal of Immunology, 2023, v. 53, n. 11, p. 1, doi. 10.1002/eji.202250326
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- Article
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
- Published in:
- 2017
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- Publication type:
- journal article
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088
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- Publication type:
- Article
Protein Aggregates and Aggrephagy in Myopathies.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8456, doi. 10.3390/ijms24098456
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- Publication type:
- Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
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- Publication type:
- Article
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5673, doi. 10.3390/ijms22115673
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- Article
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4256, doi. 10.3390/ijms22084256
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- Publication type:
- Article
Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2850, doi. 10.3390/ijms22062850
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- Publication type:
- Article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2635, doi. 10.3390/ijms21072635
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- Publication type:
- Article
An optimal transmission strategy in zero-sum matrix games under intelligent jamming attacks.
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- Wireless Networks (10220038), 2019, v. 25, n. 4, p. 1777, doi. 10.1007/s11276-017-1629-4
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- Publication type:
- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Publication type:
- Article
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.
- Published in:
- Scientific Reports, 2016, p. 20466, doi. 10.1038/srep20466
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- Article
Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment.
- Published in:
- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.982760
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- Publication type:
- Article
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
- Published in:
- 2018
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- Publication type:
- journal article
Buprenorphine may be effective for treatment of paramyotonia congenita.
- Published in:
- 2021
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- Publication type:
- journal article
Expanding the central nervous system disease spectrum associated with FLNC mutation.
- Published in:
- 2019
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- Publication type:
- journal article
Validation of the italian version of the 15-item Myasthenia Gravis Quality-of-Life questionnaire.
- Published in:
- 2017
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- Publication type:
- journal article
Validation of the Besta Neurological Institute rating scale for myasthenia gravis.
- Published in:
- 2016
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- Publication type:
- journal article
The thymus in myasthenia gravis: Site of 'innate autoimmunity'?
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- Muscle & Nerve, 2011, v. 44, n. 4, p. 467, doi. 10.1002/mus.22103
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- Publication type:
- Article
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
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- Journal of Neurology, 2010, v. 257, n. 7, p. 1119, doi. 10.1007/s00415-010-5472-0
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- Publication type:
- Article
The relationship between health, disability and quality of life in Myasthenia Gravis: results from an Italian study.
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- Journal of Neurology, 2010, v. 257, n. 1, p. 98, doi. 10.1007/s00415-009-5279-z
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- Publication type:
- Article
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.
- Published in:
- 2018
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- Publication type:
- Letter
Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy.
- Published in:
- Family Practice, 2023, v. 40, n. 2, p. 308, doi. 10.1093/fampra/cmac091
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- Publication type:
- Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
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- 2019
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- Publication type:
- journal article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 557, doi. 10.1001/jamaneurol.2017.4899
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- Publication type:
- Article
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.
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- FASEB Journal, 2019, v. 33, n. 6, p. 7155, doi. 10.1096/fj.201801577RR
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- Publication type:
- Article
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
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- FASEB Journal, 2016, v. 30, n. 10, p. 3285, doi. 10.1096/fj.201500079R
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- Publication type:
- Article
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
- Published in:
- BMC Musculoskeletal Disorders, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12891-023-07150-x
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- Article
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
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- JAMA Network Open, 2020, v. 3, n. 5, p. e204040, doi. 10.1001/jamanetworkopen.2020.4040
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- Publication type:
- Article
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 725, doi. 10.3233/JND-230134
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- Publication type:
- Article
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 449, doi. 10.3233/JND-221675
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- Publication type:
- Article
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 173, doi. 10.3233/JND-221525
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- Publication type:
- Article
Severe muscle damage with myofiber necrosis and macrophage infiltrates characterize anti-Mi2 positive dermatomyositis.
- Published in:
- Rheumatology, 2021, v. 60, n. 6, p. 2916, doi. 10.1093/rheumatology/keaa739
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- Publication type:
- Article
Treatment of Myasthenia Gravis.
- Published in:
- Clinical Drug Investigation, 2011, v. 31, n. 10, p. 691, doi. 10.2165/11593300-000000000-00000
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- Publication type:
- Article
C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 947, doi. 10.1007/s13760-017-0793-8
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- Publication type:
- Article
Reply to the letter by Finsterer et al. concerning the paper: 'Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome' by Galassi G. et al.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 971, doi. 10.1007/s13760-017-0822-7
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- Publication type:
- Article
VCP-related myopathy: a case series and a review of literature.
- Published in:
- Acta Myologica, 2023, v. 42, n. 1, p. 2, doi. 10.36185/2532-1900-244
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- Publication type:
- Article
Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study.
- Published in:
- Acta Myologica, 2022, v. 41, n. 2, p. 76, doi. 10.36185/2532-1900-074
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- Publication type:
- Article