| Nome |
# |
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Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3, file e14fb26d-1bd6-3de1-e053-1705fe0ac030
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229
|
|
TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy, file e14fb268-f4a5-3de1-e053-1705fe0ac030
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168
|
|
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients, file e14fb268-f598-3de1-e053-1705fe0ac030
|
157
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Functional changes in Becker muscular dystrophy: Implications for clinical trials in dystrophinopathies, file e14fb268-ee1f-3de1-e053-1705fe0ac030
|
151
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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy, file e14fb269-5eae-3de1-e053-1705fe0ac030
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135
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Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy, file e14fb268-f5c8-3de1-e053-1705fe0ac030
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134
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MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients, file e14fb268-ef86-3de1-e053-1705fe0ac030
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118
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Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study, file e14fb268-f4a3-3de1-e053-1705fe0ac030
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108
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Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test, file e14fb268-f4a7-3de1-e053-1705fe0ac030
|
106
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data, file e14fb26b-0c7b-3de1-e053-1705fe0ac030
|
102
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Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis, file e14fb26e-4711-3de1-e053-1705fe0ac030
|
68
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The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy, file e14fb26c-75f9-3de1-e053-1705fe0ac030
|
64
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Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients, file e14fb26c-e097-3de1-e053-1705fe0ac030
|
62
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Genetic modifiers of ambulation in the CINRG duchenne natural history study., file e14fb268-effc-3de1-e053-1705fe0ac030
|
59
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53, file e14fb26c-75f8-3de1-e053-1705fe0ac030
|
56
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Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trials, file e14fb26f-272c-3de1-e053-1705fe0ac030
|
55
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Influence of β2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy, file e14fb26c-9bda-3de1-e053-1705fe0ac030
|
53
|
|
Assessment of disease progression in dysferlinopathy: A 1-year cohort study, file e14fb26c-93a4-3de1-e053-1705fe0ac030
|
51
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|
Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease, file e14fb26e-6a9f-3de1-e053-1705fe0ac030
|
51
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Evaluation of peripherin in biofluids of patients with motor neuron diseases, file e14fb26f-0914-3de1-e053-1705fe0ac030
|
34
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Molecular bases of phenotypic and clinical variability in Duchenne and Becker muscular dystrophy, file e14fb268-f8a0-3de1-e053-1705fe0ac030
|
30
|
|
Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy, file e14fb26b-9b1d-3de1-e053-1705fe0ac030
|
24
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Molecular bases of phenotypic and clinical variability in Duchenne and Becker muscular dystrophy, file e14fb26f-a926-3de1-e053-1705fe0ac030
|
19
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Ablation of collagen VI leads to the release of platelets with altered function, file e14fb26f-424c-3de1-e053-1705fe0ac030
|
14
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Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy, file e14fb269-be01-3de1-e053-1705fe0ac030
|
11
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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up, file e14fb26e-c29e-3de1-e053-1705fe0ac030
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11
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24 month longitudinal data in ambulant boys with duchenne muscular dystrophy., file e14fb268-5069-3de1-e053-1705fe0ac030
|
9
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6 minute walk test in Duchenne MD patients with different mutations: 12 month changes., file e14fb268-510b-3de1-e053-1705fe0ac030
|
9
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Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy, file e14fb26b-07af-3de1-e053-1705fe0ac030
|
9
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|
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases, file e14fb26f-1c66-3de1-e053-1705fe0ac030
|
8
|
|
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy, file 19011b30-216d-4103-a800-6b93b50c5bc4
|
7
|
|
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy., file e14fb268-50aa-3de1-e053-1705fe0ac030
|
7
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|
Muscle MR Imaging in Tubular Aggregate Myopathy., file e14fb268-510d-3de1-e053-1705fe0ac030
|
7
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Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy, file e14fb26b-07ae-3de1-e053-1705fe0ac030
|
7
|
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file e14fb26e-de3e-3de1-e053-1705fe0ac030
|
7
|
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Genetic modifiers of upper limb function in Duchenne muscular dystrophy, file 3631dff9-4ba3-4125-a0c7-648c7f7965ec
|
6
|
|
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?, file a45321be-8936-49a9-a007-554069563ea0
|
6
|
|
SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells, file e14fb269-f94d-3de1-e053-1705fe0ac030
|
6
|
|
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale, file e14fb26e-e006-3de1-e053-1705fe0ac030
|
6
|
|
Genetic modifiers of respiratory function in Duchenne muscular dystrophy, file e14fb26f-142d-3de1-e053-1705fe0ac030
|
6
|
|
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning, file fbfa6210-7b2a-462a-b2b8-5fa05b0d136e
|
6
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Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy, file fd8377e5-9dff-4657-8d28-f62e1db14ab7
|
6
|
|
Whole-body muscle MRI in McArdle disease, file 83f574fa-4e63-485a-8b30-acbd914157e4
|
5
|
|
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study, file b53c73f3-e313-4c72-b9cd-e5ebcf19ede6
|
5
|
|
DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study, file e14fb268-f525-3de1-e053-1705fe0ac030
|
5
|
|
The relevance of migraine in the clinical spectrum of mitochondrial disorders, file e14fb270-32ea-3de1-e053-1705fe0ac030
|
5
|
|
Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance, file e9a2582b-4c70-4203-b8cc-76707310ccd3
|
5
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|
Longitudinal motor function in proximal versus distal DMD pathogenic variants, file cae1f58a-fde0-44b3-bf72-c54ebe733479
|
4
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|
OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages, file e14fb268-f4a1-3de1-e053-1705fe0ac030
|
4
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|
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase, file e14fb26d-1d94-3de1-e053-1705fe0ac030
|
4
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|
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study, file e14fb270-4fc2-3de1-e053-1705fe0ac030
|
4
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|
Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?, file 5c6e6bb9-6a02-41cb-8398-06e559340a0b
|
3
|
|
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy., file e14fb268-514e-3de1-e053-1705fe0ac030
|
3
|
|
Assessment of patients with idiopathic inflammatory myopathies and isolated creatin-kinase elevation, file e14fb268-5cbd-3de1-e053-1705fe0ac030
|
3
|
|
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A), file e14fb26c-dc7d-3de1-e053-1705fe0ac030
|
3
|
|
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study, file e14fb26e-cfdf-3de1-e053-1705fe0ac030
|
3
|
|
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E, file e14fb268-509f-3de1-e053-1705fe0ac030
|
2
|
|
Interpreting genetic variants in titin in patients with muscle disorders, file e14fb26b-097a-3de1-e053-1705fe0ac030
|
2
|
|
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy, file e14fb26d-488d-3de1-e053-1705fe0ac030
|
2
|
|
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach, file e14fb270-2018-3de1-e053-1705fe0ac030
|
2
|
|
Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges, file e14fb270-247a-3de1-e053-1705fe0ac030
|
2
|
|
Characterization of the dystrophin-associated protein complex by mass spectrometry, file e7fd317f-5101-4e3b-aa6a-c578d217910c
|
2
|
|
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, file 933693bb-7e3d-439d-83a1-f6d3f3068abd
|
1
|
|
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease, file a0095f15-e2e6-43a7-ae21-14e479602286
|
1
|
|
Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I, file e14fb268-5cb6-3de1-e053-1705fe0ac030
|
1
|
|
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype, file e14fb268-909d-3de1-e053-1705fe0ac030
|
1
|
|
Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study, file e14fb268-ebc7-3de1-e053-1705fe0ac030
|
1
|
|
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript, file e14fb268-ef82-3de1-e053-1705fe0ac030
|
1
|
|
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy, file e14fb268-f49a-3de1-e053-1705fe0ac030
|
1
|
|
Redefining phenotypes associated with mitochondrial DNA single deletion, file e14fb269-53d0-3de1-e053-1705fe0ac030
|
1
|
|
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial, file e14fb270-59ab-3de1-e053-1705fe0ac030
|
1
|
| Totale |
2.259 |