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Which are the factors influencing NIV adaptation and tolerance in ALS patients?
- Published in:
- Neurological Sciences, 2021, v. 42, n. 3, p. 1023, doi. 10.1007/s10072-020-04624-x
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- Publication type:
- Article
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
- Published in:
- 2020
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- Publication type:
- journal article
ALS Cognitive Behavioral Screen (ALS-CBS): normative values for the Italian population and clinical usability.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
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- 2019
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- Publication type:
- journal article
Clinical management of Duchenne muscular dystrophy: the state of the art.
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- 2018
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- Publication type:
- journal article
Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center.
- Published in:
- 2018
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- Publication type:
- journal article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Publication type:
- Article
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.
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- European Journal of Pediatrics, 2014, v. 173, n. 2, p. 239, doi. 10.1007/s00431-013-2151-z
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- Article
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.
- Published in:
- 2021
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- Publication type:
- journal article
Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4329, doi. 10.3390/ijms22094329
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- Article
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges.
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- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2222, doi. 10.3390/jcm9072222
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- Article
New Directions for SMA Therapy.
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- Journal of Clinical Medicine, 2018, v. 7, n. 9, p. 251, doi. 10.3390/jcm7090251
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- Publication type:
- Article
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
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- Nature Medicine, 2015, v. 21, n. 5, p. 537, doi. 10.1038/nm0515-537c
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- Publication type:
- Article
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
- Published in:
- Nature Medicine, 2015, v. 21, n. 4, p. 414, doi. 10.1038/nm0415-414b
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- Publication type:
- Article
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
- Published in:
- Nature Medicine, 2014, v. 20, n. 9, p. 992, doi. 10.1038/nm.3628
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- Publication type:
- Article
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
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- Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 351, doi. 10.1007/s12031-016-0739-2
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- Article
Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144079
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- Publication type:
- Article
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141240
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- Publication type:
- Article
Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108205
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- Publication type:
- Article
6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0083400
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- Publication type:
- Article
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052512
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- Publication type:
- Article
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
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- Muscle & Nerve, 2021, v. 64, n. 5, p. 552, doi. 10.1002/mus.27384
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- Article
Revised upper limb module for spinal muscular atrophy: Development of a new module.
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- 2017
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- Publication type:
- journal article
Old measures and new scores in spinal muscular atrophy patients.
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- Muscle & Nerve, 2015, v. 52, n. 3, p. 435, doi. 10.1002/mus.24748
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- Publication type:
- Article
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.
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- Muscle & Nerve, 2015, v. 52, n. 1, p. 13, doi. 10.1002/mus.24503
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- Publication type:
- Article
Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.
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- Muscle & Nerve, 2009, v. 40, n. 2, p. 200, doi. 10.1002/mus.21308
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- Article
Axial myopathy in myasthenia: A misleading cause of dropped head.
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- Muscle & Nerve, 2004, v. 29, n. 2, p. 329, doi. 10.1002/mus.10543
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- Publication type:
- Article
Apoptosis and apoptosis-related proteins in thyroid myopathies.
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- Muscle & Nerve, 2002, v. 26, n. 3, p. 383, doi. 10.1002/mus.10212
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- Article
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
- Published in:
- 2016
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- Publication type:
- journal article
Current methodological issues in the study of children with inherited neuromuscular disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 6, p. 417, doi. 10.1111/j.1469-8749.2008.02066.x
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- Publication type:
- Article
Muscle MRI in inherited neuromuscular disorders: Past, present, and future.
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- Journal of Magnetic Resonance Imaging, 2007, v. 25, n. 2, p. 433, doi. 10.1002/jmri.20804
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- Publication type:
- Article
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
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- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1920, doi. 10.3390/jcm12051920
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- Publication type:
- Article
A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 115, doi. 10.3390/brainsci11010115
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- Publication type:
- Article
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
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- Publication type:
- Article
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116
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- Article
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
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- Article
Effect of exercise on telomere length and telomere proteins expression in mdx mice.
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- Molecular & Cellular Biochemistry, 2020, v. 470, n. 1/2, p. 189, doi. 10.1007/s11010-020-03761-3
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- Article
Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments. Preliminary experience.
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- 2012
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- Publication type:
- journal article
Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments.
- Published in:
- Skeletal Radiology, 2012, v. 41, n. 8, p. 955, doi. 10.1007/s00256-011-1301-5
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- Article
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy.
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- Journal of Clinical Pharmacy & Therapeutics, 2022, v. 47, n. 9, p. 1478, doi. 10.1111/jcpt.13733
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- Publication type:
- Article
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00605
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- Publication type:
- Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
- Published in:
- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Publication type:
- Article
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230677
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- Publication type:
- Article
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05426-6
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- Publication type:
- Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
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- Publication type:
- Article
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
- Published in:
- Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
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- Publication type:
- Article
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 285, doi. 10.3233/JND-230129
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- Publication type:
- Article
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211
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- Publication type:
- Article
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 567, doi. 10.3233/JND-221556
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- Publication type:
- Article