Found: 97
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Patient-reported outcome measures in drugs for neurological conditions approved by European Medicines Agency 2017–2022.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 8, p. 2933, doi. 10.1007/s10072-023-06825-6
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- Publication type:
- Article
Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 2149, doi. 10.1007/s10072-023-06631-0
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- Publication type:
- Article
Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection.
- Published in:
- 2021
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- Publication type:
- Letter
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
Taste changes in amyotrophic lateral sclerosis and effects on quality of life.
- Published in:
- 2019
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- Publication type:
- journal article
Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care.
- Published in:
- 2019
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- Publication type:
- journal article
Sialorrhea in patients with ALS: current treatment options.
- Published in:
- Degenerative Neurological & Neuromuscular Disease, 2019, v. 9, p. 19, doi. 10.2147/DNND.S168353
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- Publication type:
- Article
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 9, p. 1178, doi. 10.1111/j.1468-1331.2010.02992.x
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- Publication type:
- Article
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3346, doi. 10.3390/ijms21093346
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- Publication type:
- Article
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 11, p. 4735, doi. 10.1007/s00431-024-05735-9
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- Publication type:
- Article
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1923, doi. 10.1007/s00431-021-04325-3
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- Publication type:
- Article
Meditation Training for People with Amyotrophic Lateral Sclerosis and Their Caregivers.
- Published in:
- 2014
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- Publication type:
- Journal Article
Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 781, doi. 10.1002/ajmg.a.62040
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- Publication type:
- Article
The Facioscapulohumeral Muscular Dystrophy‐Health Index: Development and evaluation of a disease‐specific outcome measure.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 4, p. 422, doi. 10.1002/mus.27951
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- Publication type:
- Article
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 2, p. 157, doi. 10.1002/mus.27853
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- Publication type:
- Article
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index of the orbicularis oculi muscle.
- Published in:
- Muscle & Nerve, 2023, v. 67, n. 5, p. 401, doi. 10.1002/mus.27809
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- Publication type:
- Article
Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center.
- Published in:
- Canadian Respiratory Journal, 2022, p. 1, doi. 10.1155/2022/2321909
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- Publication type:
- Article
Cross-Cultural Adaptation and Validation of the Italian Version of the Dysphagia Handicap Index (I-DHI).
- Published in:
- Dysphagia (0179051X), 2022, v. 37, n. 5, p. 1120, doi. 10.1007/s00455-021-10369-2
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- Publication type:
- Article
"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
- Published in:
- 2019
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- Publication type:
- journal article
Body composition and myokines in a cohort of patients with Becker muscular dystrophy.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 1, p. 63, doi. 10.1002/mus.27565
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- Publication type:
- Article
Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 3, p. 342, doi. 10.1002/mus.27354
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- Publication type:
- Article
The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions.
- Published in:
- 2021
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- Publication type:
- journal article
12‐Month progression of motor and functional outcomes in congenital myotonic dystrophy.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 3, p. 384, doi. 10.1002/mus.27147
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- Publication type:
- Article
Guidelines on clinical presentation and management of nondystrophic myotonias.
- Published in:
- 2020
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- Publication type:
- journal article
Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Review of the Diagnosis and Treatment of Periodic Paralysis.
- Published in:
- 2018
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- Publication type:
- journal article
Cerebral involvement in myotonic dystrophies.
- Published in:
- Muscle & Nerve, 2007, v. 36, n. 3, p. 294, doi. 10.1002/mus.20800
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- Publication type:
- Article
Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 171, doi. 10.1159/000460253
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- Publication type:
- Article
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 1, p. 45, doi. 10.1007/s00415-007-0657-x
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- Publication type:
- Article
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 241, doi. 10.1007/s00439-019-01983-0
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- Publication type:
- Article
In Myotonic Dystrophy Type 1 Head Repositioning Errors Suggest Impaired Cervical Proprioception.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4685, doi. 10.3390/jcm13164685
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- Publication type:
- Article
Caregivers' Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 13, p. 4183, doi. 10.3390/jcm12134183
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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.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1920, doi. 10.3390/jcm12051920
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- Publication type:
- Article
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
- Published in:
- Molecular Biology Reports, 2014, v. 41, n. 5, p. 2865, doi. 10.1007/s11033-014-3142-5
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- Publication type:
- Article
Serum C-Reactive Protein as a Prognostic Biomarker in Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 6, p. 660, doi. 10.1001/jamaneurol.2016.6179
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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
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.
- Published in:
- 2021
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- Publication type:
- journal 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
SPECT imaging of GABA<sub>A</sub>/benzodiazepine receptors and cerebral perfusion in mild cognitive impairment.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2010, v. 37, n. 6, p. 1156, doi. 10.1007/s00259-010-1409-1
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- Publication type:
- Article
Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [<sup>123</sup>I]FP-CIT.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2008, v. 35, n. 7, p. 1343, doi. 10.1007/s00259-008-0729-x
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- Publication type:
- Article
Identification by [<sup>99m</sup>Tc]ECD SPECT of anterior cingulate hypoperfusion in progressive supranuclear palsy, in comparison with Parkinson’s disease.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2007, v. 34, n. 7, p. 1071, doi. 10.1007/s00259-006-0344-7
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- Publication type:
- Article
Relation between wall thickening on gated perfusion SPECT and functional recovery after coronary revascularization in patients with previous myocardial infarction.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2004, v. 31, n. 12, p. 1599, doi. 10.1007/s00259-004-1613-y
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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.
- Published in:
- Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
- By:
- 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
- By:
- Publication type:
- Article
Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 411, doi. 10.3233/JND-230115
- By:
- 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
Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 404, doi. 10.1002/acn3.51514
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- Publication type:
- Article
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 8, p. 1622, doi. 10.1002/acn3.51411
- By:
- Publication type:
- Article
Type I SMA "new natural history": long‐term data in nusinersen‐treated patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 548, doi. 10.1002/acn3.51276
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- Publication type:
- Article