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Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy.
- Published in:
- Neurological Sciences, 2022, v. 43, p. 625, doi. 10.1007/s10072-022-06085-w
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- Publication type:
- Article
Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA.
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- 2019
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- Publication type:
- journal article
Italian recommendations for the diagnosis and treatment of myasthenia gravis.
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- 2019
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- Publication type:
- journal article
Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.
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- 2016
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- Publication type:
- journal article
Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients.
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- Neurological Sciences, 2010, v. 31, n. 6, p. 735, doi. 10.1007/s10072-010-0332-3
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- Publication type:
- Article
The relevance of migraine in the clinical spectrum of mitochondrial disorders.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08206-z
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- Publication type:
- Article
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.668094
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- Article
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
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- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
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- Publication type:
- Article
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
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- 2017
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- Publication type:
- journal article
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7
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- Publication type:
- Article
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
- Published in:
- 2020
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- Publication type:
- journal article
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
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- 2018
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- Publication type:
- Letter
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
Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 6053, doi. 10.3390/ijms20236053
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- Publication type:
- Article
The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy.
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- Journal of Clinical Medicine, 2019, v. 8, n. 5, p. 649, doi. 10.3390/jcm8050649
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- Publication type:
- Article
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate.
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- Metabolites (2218-1989), 2022, v. 12, n. 11, p. 1141, doi. 10.3390/metabo12111141
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- Publication type:
- Article
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1.
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- Journal of the International Neuropsychological Society, 2020, v. 26, n. 5, p. 492, doi. 10.1017/S1355617719001383
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- Publication type:
- Article
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning.
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- PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285422
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- Publication type:
- Article
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.
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- Journal of Pathology, 2012, v. 228, n. 2, p. 251, doi. 10.1002/path.4026
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- Publication type:
- Article
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes.
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- Scientific Reports, 2017, p. 41046, doi. 10.1038/srep41046
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- Publication type:
- Article
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.
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- Scientific Reports, 2016, p. 32439, doi. 10.1038/srep32439
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- Publication type:
- Article
Muscle MR Imaging in Tubular Aggregate Myopathy.
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- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094427
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- Publication type:
- Article
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy.
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- Muscle & Nerve, 2012, v. 45, n. 6, p. 831, doi. 10.1002/mus.23340
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- Publication type:
- Article
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
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- Muscle & Nerve, 2011, v. 44, n. 5, p. 703, doi. 10.1002/mus.22132
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- Publication type:
- Article
Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity.
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- Neurodegenerative Diseases, 2015, v. 15, n. 2, p. 114, doi. 10.1159/000375307
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- Publication type:
- Article
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
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- Lung, 2013, v. 191, n. 5, p. 537, doi. 10.1007/s00408-013-9489-x
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- Publication type:
- Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
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- Publication type:
- Article
Novel spastin mutations and their expression analysis in two Italian families.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 710, doi. 10.1038/sj.ejhg.5201027
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- Publication type:
- Article
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
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- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
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- Publication type:
- Article
Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease.
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- JAMA Neurology, 2017, v. 74, n. 5, p. 525, doi. 10.1001/jamaneurol.2016.5398
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- Publication type:
- Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
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- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Publication type:
- Article
Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot-Marie-Tooth Disease.
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- NeuroMolecular Medicine, 2014, v. 16, n. 3, p. 540, doi. 10.1007/s12017-014-8307-9
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- Publication type:
- Article
Decorin and biglycan expression is differentially altered in several muscular dystrophies.
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- Brain: A Journal of Neurology, 2005, v. 128, n. 11, p. 2546, doi. 10.1093/brain/awh635
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- Article
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
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- Brain: A Journal of Neurology, 2002, v. 125, n. 11, p. 2392
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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.
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- BMC Musculoskeletal Disorders, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12891-023-07150-x
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- Publication type:
- Article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
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- Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
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- Publication type:
- Article
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 713, doi. 10.3233/JND-221627
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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?
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 567, doi. 10.3233/JND-221556
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- Publication type:
- Article
Evaluation of peripherin in biofluids of patients with motor neuron diseases.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 8, p. 1750, doi. 10.1002/acn3.51419
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- Publication type:
- Article
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 846, doi. 10.1002/acn3.51031
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- Publication type:
- Article
Striated muscle activator of Rho signalling (STARS) overexpression in the mdx mouse enhances muscle functional capacity and regulates the actin cytoskeleton and oxidative phosphorylation pathways.
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- Experimental Physiology, 2021, v. 106, n. 7, p. 1597, doi. 10.1113/EP089253
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- Publication type:
- Article
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 14143, doi. 10.1038/ncomms14143
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- Publication type:
- Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
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- Acta Myologica, 2020, v. 39, n. 2, p. 67, doi. 10.36185-2532-1900-009
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- Publication type:
- 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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- Publication type:
- Article
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.
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- Acta Myologica, 2016, v. 35, p. 122
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- Publication type:
- 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
Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study.
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- Annals of Neurology, 2015, v. 77, n. 4, p. 684, doi. 10.1002/ana.24370
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- Publication type:
- Article
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
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- Annals of Neurology, 2009, v. 65, n. 1, p. 83, doi. 10.1002/ana.21553
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- Publication type:
- Article
Correction to: Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance.
- Published in:
- 2023
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- Publication type:
- Correction Notice