| Nome |
# |
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Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls, file de3e52b0-641a-762d-e053-3705fe0a30e0
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231
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Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data, file de3e52b3-08d0-762d-e053-3705fe0a30e0
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160
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Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study, file de3e52af-f2d8-762d-e053-3705fe0a30e0
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55
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An observational study of functional abilities in infants, children, and adults with type 1 SMA, file de3e52b2-f834-762d-e053-3705fe0a30e0
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43
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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy, file de3e52af-79ce-762d-e053-3705fe0a30e0
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35
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Sport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer, file de3e52b0-4dc6-762d-e053-3705fe0a30e0
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34
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Antiosteoporotic activity of genistein aglycone in postmenopausal women: Evidence from a post-hoc analysis of a multicenter randomized controlled trial, file de3e52b0-cb2a-762d-e053-3705fe0a30e0
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30
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Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy, file de3e52b0-42fd-762d-e053-3705fe0a30e0
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28
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Histological effects of givinostat in boys with Duchenne muscular dystrophy, file de3e52b0-4bec-762d-e053-3705fe0a30e0
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24
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The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence, file de3e52b1-f192-762d-e053-3705fe0a30e0
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21
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Hippo signaling pathway is altered in Duchenne muscular dystrophy, file de3e52b1-ac65-762d-e053-3705fe0a30e0
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20
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MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients, file de3e52b2-b826-762d-e053-3705fe0a30e0
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20
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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy, file de3e52b0-471d-762d-e053-3705fe0a30e0
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19
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Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs, file de3e52b1-0a21-762d-e053-3705fe0a30e0
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19
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Feeding problems and malnutrition in Spinal Muscular Atrophy type II., file de3e52ae-b1e7-762d-e053-3705fe0a30e0
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17
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TBK1 is associated with ALS and ALS-FTD in Sardinian patients, file de3e52b0-6289-762d-e053-3705fe0a30e0
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17
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Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions, file de3e52b1-144b-762d-e053-3705fe0a30e0
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16
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Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials, file de3e52b4-0485-762d-e053-3705fe0a30e0
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16
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Comparative analysis of C9orf72 and sporadic disease in a large multicenter ALS population: the effect of male sex on survival of C9orf72 positive patients., file de3e52b2-7d21-762d-e053-3705fe0a30e0
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15
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Muscle MRI in inherited neuromuscular disorders: past, present and future., file de3e52ae-b6b6-762d-e053-3705fe0a30e0
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14
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The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients, file de3e52b0-4dc3-762d-e053-3705fe0a30e0
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12
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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 de3e52b2-d039-762d-e053-3705fe0a30e0
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12
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Distrofia muscolare di Duchenne: stato dell'arte su nuovi approcci terapeutici, file de3e52b3-ee45-762d-e053-3705fe0a30e0
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7
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Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice, file de3e52af-7788-762d-e053-3705fe0a30e0
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6
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ANT1 is reduced in sporadic inclusion body myositis., file de3e52af-be7b-762d-e053-3705fe0a30e0
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6
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Predictive factors for the development of scoliosis in Duchenne muscular dystrophy., file de3e52ae-b63f-762d-e053-3705fe0a30e0
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5
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Stato dell'arte sulle terapie della Distrofia muscolare di Duchenne., file de3e52b0-6078-762d-e053-3705fe0a30e0
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5
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null, file de3e52b0-6d46-762d-e053-3705fe0a30e0
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5
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Spinal Muscular Atrophy Motor Functional Scales and Measures of Pulmonary Function, file de3e52b4-040f-762d-e053-3705fe0a30e0
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5
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Specific matrix metalloproteinase expression in focal myositis: an immunopathological study, file de3e52ae-b70b-762d-e053-3705fe0a30e0
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4
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Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle, file de3e52b2-a1e3-762d-e053-3705fe0a30e0
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4
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Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function, file de3e52b2-e9a3-762d-e053-3705fe0a30e0
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4
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Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience, file de3e52b2-eb7b-762d-e053-3705fe0a30e0
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4
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A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy, file de3e52b3-980e-762d-e053-3705fe0a30e0
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4
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Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis, file de3e52b3-b0e7-762d-e053-3705fe0a30e0
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4
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Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance, file de3e52b3-bdd6-762d-e053-3705fe0a30e0
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4
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Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy, file de3e52b5-4792-762d-e053-3705fe0a30e0
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4
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2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants, file 7a429374-4c77-402d-aca2-9688a2241374
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3
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Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone, file de3e52ae-bf76-762d-e053-3705fe0a30e0
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3
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Prevalence of congenital muscular dystrophy in Italy: a population study, file de3e52af-7aa7-762d-e053-3705fe0a30e0
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3
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Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations, file de3e52b0-490c-762d-e053-3705fe0a30e0
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3
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Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study, file de3e52b0-4b49-762d-e053-3705fe0a30e0
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3
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Effects of teriparatide on bone mineral density and quality of life in Duchenne muscular dystrophy related osteoporosis: a case report, file de3e52b0-6aa9-762d-e053-3705fe0a30e0
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3
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The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys, file de3e52b0-c901-762d-e053-3705fe0a30e0
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3
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Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: Results of a phase IIb double-blind study of salbutamol, file de3e52b2-9654-762d-e053-3705fe0a30e0
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3
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Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy, file de3e52b2-9c69-762d-e053-3705fe0a30e0
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3
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Novel outcome measures for Charcot-Marie-Tooth disease: Validation and reliability of the 6-min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life, file de3e52b2-b824-762d-e053-3705fe0a30e0
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3
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Development of an academic disease registry for spinal muscular atrophy, file de3e52b3-0a71-762d-e053-3705fe0a30e0
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3
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The role of metacognitive beliefs on anxiety and depression among Amyotrophic Lateral Sclerosis caregivers, file de3e52b3-1c1f-762d-e053-3705fe0a30e0
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3
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Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates, file de3e52b5-7069-762d-e053-3705fe0a30e0
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3
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Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy, file 754aec5f-262f-4494-9e70-9a82bff7c4ac
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2
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Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases, file de3e52ae-cb4b-762d-e053-3705fe0a30e0
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2
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Myoglobinuria
as first clinical sign of a primary alpha-sarcoglycanopathy., file de3e52ae-f6ea-762d-e053-3705fe0a30e0
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2
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Genomic Variations Affecting Biological Effects of Statins, file de3e52b0-4bed-762d-e053-3705fe0a30e0
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2
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Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy, file de3e52b1-c0b3-762d-e053-3705fe0a30e0
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2
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file de3e52b2-28dd-762d-e053-3705fe0a30e0
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2
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study, file de3e52b2-a35d-762d-e053-3705fe0a30e0
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2
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A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”, file de3e52b2-a95c-762d-e053-3705fe0a30e0
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2
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Nusinersen versus sham control in later-onset spinal muscular atrophy, file de3e52b2-a95d-762d-e053-3705fe0a30e0
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2
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Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center, file de3e52b2-b5b4-762d-e053-3705fe0a30e0
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2
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The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials, file de3e52b3-1d95-762d-e053-3705fe0a30e0
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2
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Long-term progression in type II spinal muscular atrophy: A retrospective observational study, file de3e52b3-37e7-762d-e053-3705fe0a30e0
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2
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Factors predicting survival in ALS: a multicenter Italian study, file de3e52b4-6c91-762d-e053-3705fe0a30e0
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2
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null, file e8a1225b-a939-4873-9b7b-6ed79407313a
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2
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Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies, file 83e5f550-7a86-496d-aa24-f60ad756e0b1
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1
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A very late onset AChR and MuSK double positive myasthenia gravis: a case description and literature review, file 84719171-b28f-4425-b287-10b086c2a588
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1
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Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired, file 9d67e041-64e1-4e47-936f-5ad65ab6fe3d
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1
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VEGF overexpression via adeno-associated virus gene transfer promotes skeletal muscle regeneration and enhances muscle function in mdx mice, file de3e52ae-bed6-762d-e053-3705fe0a30e0
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1
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Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease., file de3e52ae-c0b0-762d-e053-3705fe0a30e0
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1
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Telomere shortening is associated to TRF1 and PARP1 overexpression in Duchenne muscular dystrophy, file de3e52ae-c903-762d-e053-3705fe0a30e0
|
1
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Muscle Fat-Fraction and Mapping in Duchenne Muscular Dystrophy: Evaluation of Disease Distribution and Correlation with Clinical Assessments: A preliminary experience., file de3e52ae-ceb9-762d-e053-3705fe0a30e0
|
1
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24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy., file de3e52ae-f413-762d-e053-3705fe0a30e0
|
1
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Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice., file de3e52af-77aa-762d-e053-3705fe0a30e0
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1
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Burden, professional support, and social network in families of children and young adults with muscular dystrophies, file de3e52af-79a2-762d-e053-3705fe0a30e0
|
1
|
|
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test, file de3e52af-79ab-762d-e053-3705fe0a30e0
|
1
|
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Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study, file de3e52af-7c34-762d-e053-3705fe0a30e0
|
1
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|
Conceptualizing the relations between metacognition and executive functions in Amyotrophic Lateral Sclerosis (ALS) patients’ caregivers.
A preliminary study, file de3e52af-b0cf-762d-e053-3705fe0a30e0
|
1
|
|
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials, file de3e52b0-4bb4-762d-e053-3705fe0a30e0
|
1
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|
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy, file de3e52b0-4dc9-762d-e053-3705fe0a30e0
|
1
|
|
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?, file de3e52b0-5006-762d-e053-3705fe0a30e0
|
1
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|
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015, file de3e52b0-5f43-762d-e053-3705fe0a30e0
|
1
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis, file de3e52b3-182c-762d-e053-3705fe0a30e0
|
1
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|
A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy, file de3e52b3-18ea-762d-e053-3705fe0a30e0
|
1
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|
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, file de3e52b3-1a67-762d-e053-3705fe0a30e0
|
1
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Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements, file de3e52b3-1e00-762d-e053-3705fe0a30e0
|
1
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|
Which are the factors influencing NIV adaptation and tolerance in ALS patients?, file de3e52b3-33ff-762d-e053-3705fe0a30e0
|
1
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Clinical management of Duchenne muscular dystrophy: the state of the art, file de3e52b3-37e9-762d-e053-3705fe0a30e0
|
1
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Longitudinal natural history in young boys with Duchenne muscular dystrophy, file de3e52b3-5089-762d-e053-3705fe0a30e0
|
1
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The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis, file de3e52b3-7202-762d-e053-3705fe0a30e0
|
1
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The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy, file de3e52b4-47be-762d-e053-3705fe0a30e0
|
1
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| Totale |
1.022 |