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Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis.
- Published in:
- Neurology & Therapy, 2024, v. 13, n. 5, p. 1483, doi. 10.1007/s40120-024-00653-2
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- Article
Muscle MRI findings in facioscapulohumeral muscular dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 725, doi. 10.3233/JND-230134
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- 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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- 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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- Article
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.
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- Scientific Reports, 2016, p. 20466, doi. 10.1038/srep20466
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- Article
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
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- Cells (2073-4409), 2021, v. 10, n. 6, p. 1521, doi. 10.3390/cells10061521
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- Article
Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis.
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- Cells (2073-4409), 2021, v. 10, n. 5, p. 1146, doi. 10.3390/cells10051146
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- Article
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.
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- Cells (2073-4409), 2020, v. 9, n. 6, p. 1532, doi. 10.3390/cells9061532
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- Article
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.
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- Cells (2073-4409), 2016, v. 5, n. 3, p. 33, doi. 10.3390/cells5030033
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- Article
Treatment of Myasthenia Gravis.
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- Clinical Drug Investigation, 2011, v. 31, n. 10, p. 691, doi. 10.2165/11593300-000000000-00000
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- Article
C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome.
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- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 947, doi. 10.1007/s13760-017-0793-8
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- 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.
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- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 971, doi. 10.1007/s13760-017-0822-7
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- Article
VCP-related myopathy: a case series and a review of literature.
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- Acta Myologica, 2023, v. 42, n. 1, p. 2, doi. 10.36185/2532-1900-244
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- Article
Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study.
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- Acta Myologica, 2022, v. 41, n. 2, p. 76, doi. 10.36185/2532-1900-074
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- Article
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports.
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- Acta Myologica, 2020, v. 39, n. 4, p. 218, doi. 10.36185/2532-1900-025
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- Article
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
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- Acta Myologica, 2020, v. 39, n. 2, p. 57, doi. 10.36185-2532-1900-008
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- Article
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
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- Acta Myologica, 2015, v. 34, n. 2/3, p. 109
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- 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
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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- 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
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
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- Neurogenetics, 2022, v. 23, n. 1, p. 19, doi. 10.1007/s10048-021-00673-2
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- Article
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
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- Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5
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- Publication type:
- Article
Severe muscle damage with myofiber necrosis and macrophage infiltrates characterize anti-Mi2 positive dermatomyositis.
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- Rheumatology, 2021, v. 60, n. 6, p. 2916, doi. 10.1093/rheumatology/keaa739
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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.
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- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.982760
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- Article
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088
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- Article
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
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- Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
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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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- 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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- 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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- 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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- 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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- Article
Gold(I)-Catalysed Cyclisation of Alkynoic Acids: Towards an Efficient and Eco-Friendly Synthesis of γ-, δ- and ϵ-Lactones.
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- Advanced Synthesis & Catalysis, 2016, v. 358, n. 23, p. 3857, doi. 10.1002/adsc.201600575
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- Article
Domain clustering for inter‐domain path computation speed‐up.
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- Networks, 2018, v. 71, n. 3, p. 252, doi. 10.1002/net.21800
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- Article
Virtual function placement for service chaining with partial orders and anti‐affinity rules.
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- Networks, 2018, v. 71, n. 2, p. 97, doi. 10.1002/net.21768
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- Publication type:
- Article
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
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- Acta Neuropathologica, 2020, v. 140, n. 2, p. 231, doi. 10.1007/s00401-020-02164-4
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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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- Article
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646
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- Article
Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review.
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- Genes, 2023, v. 14, n. 9, p. 1753, doi. 10.3390/genes14091753
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- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
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- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Article
Inflammation and Epstein-Barr Virus Infection Are Common Features of Myasthenia Gravis Thymus: Possible Roles in Pathogenesis.
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- Autoimmune Diseases (2090-0422), 2011, p. 1, doi. 10.4061/2011/213092
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- Publication type:
- Article
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
- Published in:
- 2019
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- Publication type:
- journal article
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6547, doi. 10.3390/ijms25126547
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- Article
Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community.
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- Open Journal of Bioresources, 2017, v. 4, p. 1, doi. 10.5334/ojb.29
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- Publication type:
- Article
Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study.
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- SAGE Open Medicine, 2018, v. 6, p. 1, doi. 10.1177/2050312118819013
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- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
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- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Article
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
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- Journal of Neurology, 2023, v. 270, n. 9, p. 4538, doi. 10.1007/s00415-023-11729-8
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- Publication type:
- Article
Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial.
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- Journal of Neurology, 2022, v. 269, n. 11, p. 5858, doi. 10.1007/s00415-022-11231-7
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- Publication type:
- Article
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen.
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- Journal of Neurology, 2022, v. 269, n. 6, p. 3264, doi. 10.1007/s00415-021-10954-3
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- Publication type:
- Article