| Nome |
# |
|
Therapy in myotonic disorders and in muscle channelopathies, file dfa8b98f-08a8-748b-e053-3a05fe0a3a96
|
1.128
|
|
Treatment for periodic paralysis, file dfa8b98f-5b0c-748b-e053-3a05fe0a3a96
|
870
|
|
Cerebral involvement in myotonic dystrophies, file dfa8b990-8365-748b-e053-3a05fe0a3a96
|
746
|
|
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype., file dfa8b9a0-6a10-748b-e053-3a05fe0a3a96
|
604
|
|
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2, file dfa8b98f-21b1-748b-e053-3a05fe0a3a96
|
570
|
|
The hypocretin neurotransmission system in myotonic dystrophy type 1, file dfa8b990-89f3-748b-e053-3a05fe0a3a96
|
569
|
|
Use of gold weights to correct lagophthalmos in neuromuscular disease, file dfa8b990-7de0-748b-e053-3a05fe0a3a96
|
547
|
|
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA, file dfa8b9a4-b8b3-748b-e053-3a05fe0a3a96
|
537
|
|
Cognitive impairment in adult myotonic dystrophies : a longitudinal study, file dfa8b98f-29a2-748b-e053-3a05fe0a3a96
|
501
|
|
Concurrence of facioscapulohumeral muscular dystrophy and myasthenia gravis, file dfa8b990-7dec-748b-e053-3a05fe0a3a96
|
495
|
|
Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis, file dfa8b99a-bf82-748b-e053-3a05fe0a3a96
|
488
|
|
Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy, file dfa8b98f-2afc-748b-e053-3a05fe0a3a96
|
478
|
|
Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy, file dfa8b990-8278-748b-e053-3a05fe0a3a96
|
464
|
|
Quantitative myotonia assessment: an experimental protocol, file dfa8b990-7de2-748b-e053-3a05fe0a3a96
|
441
|
|
Andersen's syndrome : a distinct periodic paralysis, file dfa8b990-85b7-748b-e053-3a05fe0a3a96
|
434
|
|
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect, file dfa8b98f-5b16-748b-e053-3a05fe0a3a96
|
368
|
|
Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency, file dfa8b990-7e4c-748b-e053-3a05fe0a3a96
|
349
|
|
A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature, file dfa8b990-882a-748b-e053-3a05fe0a3a96
|
343
|
|
Oculopharyngeal muscular dystrophy in Italy., file dfa8b990-7dde-748b-e053-3a05fe0a3a96
|
333
|
|
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen., file dfa8b9a7-89a1-748b-e053-3a05fe0a3a96
|
321
|
|
Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family, file dfa8b98f-08ac-748b-e053-3a05fe0a3a96
|
309
|
|
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion, file dfa8b990-8366-748b-e053-3a05fe0a3a96
|
306
|
|
A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies, file dfa8b98f-19ce-748b-e053-3a05fe0a3a96
|
285
|
|
Passive Versus Active Circuit During Invasive Mechanical Ventilation in Subjects with Amyotrophic Lateral Sclerosis, file dfa8b9a0-7770-748b-e053-3a05fe0a3a96
|
269
|
|
Increased visceral adipose tissue rather than BMI as a risk factor for dementia, file dfa8b990-8364-748b-e053-3a05fe0a3a96
|
242
|
|
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study., file dfa8b9a0-a63f-748b-e053-3a05fe0a3a96
|
235
|
|
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis, file dfa8b996-7be8-748b-e053-3a05fe0a3a96
|
229
|
|
Stable hybrid myotubes: a new model for studying re-expression of enzymatic activities in vitro, file dfa8b98f-08ab-748b-e053-3a05fe0a3a96
|
227
|
|
Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2, file dfa8b990-7df3-748b-e053-3a05fe0a3a96
|
215
|
|
Mexiletine Improves Symptoms and Signs of Myotonia in Non-dystrophic Myotonia, file dfa8b990-8135-748b-e053-3a05fe0a3a96
|
206
|
|
Ocular Involvement Occurs Frequently at All Stages of Amyotrophic Lateral Sclerosis: Preliminary Experience in a Large Italian Cohort, file dfa8b9a5-9115-748b-e053-3a05fe0a3a96
|
201
|
|
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study., file dfa8b9a7-b681-748b-e053-3a05fe0a3a96
|
190
|
|
Long-term follow-up free of ventricular fibrillation recurrence after resuscitated cardiac arrest in a myotonic dystrophy type 1 patient, file dfa8b990-655a-748b-e053-3a05fe0a3a96
|
187
|
|
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy, file dfa8b9a0-867a-748b-e053-3a05fe0a3a96
|
172
|
|
Persistent autobiographical amnesia: a case report, file dfa8b98f-5b13-748b-e053-3a05fe0a3a96
|
168
|
|
Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism, file dfa8b990-7df1-748b-e053-3a05fe0a3a96
|
166
|
|
Review of the Diagnosis and Treatment of Periodic Paralysis, file dfa8b999-98a5-748b-e053-3a05fe0a3a96
|
152
|
|
Consensus-based care recommendations for adults with myotonic dystrophy type 1., file dfa8b9a0-a7ec-748b-e053-3a05fe0a3a96
|
138
|
|
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 dfa8b99e-6346-748b-e053-3a05fe0a3a96
|
136
|
|
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53, file dfa8b99e-e1fb-748b-e053-3a05fe0a3a96
|
136
|
|
Genetic modifiers of respiratory function in Duchenne muscular dystrophy, file dfa8b9a3-a2df-748b-e053-3a05fe0a3a96
|
135
|
|
Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1, file dfa8b9a4-cb0c-748b-e053-3a05fe0a3a96
|
135
|
|
Diagnostic journey in Spinal Muscular Atrophy : Is it still an odyssey?, file dfa8b9a4-d942-748b-e053-3a05fe0a3a96
|
133
|
|
Sialorrhea in patients with ALS: current treatment options, file dfa8b9a0-5de0-748b-e053-3a05fe0a3a96
|
126
|
|
Cross-cultural adaptation and validation of the Italian version of the dysphagia handicap index (I-DHI), file dfa8b9a8-0e72-748b-e053-3a05fe0a3a96
|
125
|
|
Inflammatory role of dendritic cells in Amyotrophic Lateral Sclerosis revealed by an analysis of patients' peripheral blood, file dfa8b999-2fbc-748b-e053-3a05fe0a3a96
|
120
|
|
Clinical spectrum of proximal myotonic myopathy (PROMM) syndrome, file dfa8b98f-2337-748b-e053-3a05fe0a3a96
|
111
|
|
The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis., file dfa8b9a4-c9f4-748b-e053-3a05fe0a3a96
|
110
|
|
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1., file dfa8b9a0-5f91-748b-e053-3a05fe0a3a96
|
109
|
|
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., file dfa8b9a4-fa5e-748b-e053-3a05fe0a3a96
|
109
|
|
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study, file dfa8b9a0-5f7f-748b-e053-3a05fe0a3a96
|
108
|
|
An observational study of functional abilities in infants, children, and adults with type 1 SMA, file dfa8b9a0-84cc-748b-e053-3a05fe0a3a96
|
101
|
|
Upper limb function in Duchenne muscular dystrophy : 24 month longitudinal data, file dfa8b9a0-7774-748b-e053-3a05fe0a3a96
|
95
|
|
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, file dfa8b9a0-9135-748b-e053-3a05fe0a3a96
|
86
|
|
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53 : A 3 year follow up, file dfa8b9a7-a6c3-748b-e053-3a05fe0a3a96
|
84
|
|
Review of the Diagnosis and Treatment of Periodic Paralysis, file dfa8b999-f367-748b-e053-3a05fe0a3a96
|
79
|
|
Type I SMA "new natural history": long-term data in nusinersen-treated patients., file dfa8b9a7-83dc-748b-e053-3a05fe0a3a96
|
79
|
|
Critical review of the chapter ‘Metabolic Myopathies’, Vol 29 edited by David Hilton-Jones, Marian Squier, Taylor Doris, and Paul M. Matthews, 287 pp, ill., London W.B. Saunders Company Ltd, 1995 in Major Problems in Neurology, file dfa8b98f-5608-748b-e053-3a05fe0a3a96
|
78
|
|
The Genetic Landscape of Dystrophin Mutations in Italy : A Nationwide Study, file dfa8b9a3-bd93-748b-e053-3a05fe0a3a96
|
73
|
|
Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection, file dfa8b9a7-9bf6-748b-e053-3a05fe0a3a96
|
71
|
|
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4, file dfa8b9a3-8ffd-748b-e053-3a05fe0a3a96
|
69
|
|
Circulating irisn is reduced in male patients with type 1 and type 2 Myotonic Dystrophies, file dfa8b999-b50c-748b-e053-3a05fe0a3a96
|
68
|
|
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 28d699b6-27d4-485e-a4d6-efc2522a999d
|
66
|
|
Andersen’s syndrome: a single or multiple gene channelopathy?, file dfa8b990-7ddd-748b-e053-3a05fe0a3a96
|
60
|
|
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study., file dfa8b9a7-7323-748b-e053-3a05fe0a3a96
|
58
|
|
Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire, file 0197f355-f82e-402a-b713-9d12adb9e21d
|
54
|
|
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 dfa8b9a3-750d-748b-e053-3a05fe0a3a96
|
41
|
|
Contrast-induced seizures after cardiac catheterization in a 6-year-old child, file dfa8b990-7e4b-748b-e053-3a05fe0a3a96
|
34
|
|
Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit, file c0211e58-8cc2-4fa7-a9a9-ee616a28e753
|
32
|
|
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence, file dfa8b9a0-7772-748b-e053-3a05fe0a3a96
|
30
|
|
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired, file dfa8b9a9-9cff-748b-e053-3a05fe0a3a96
|
29
|
|
Body composition and myokines in a cohort of patients with Becker muscular dystrophy, file 44f6b2a2-5b8c-4fa3-bca7-e616fc5c3181
|
26
|
|
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?, file 0d2c3d9a-4b2f-4015-85c6-59774d18e5e0
|
25
|
|
Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019), file dfa8b9a7-abed-748b-e053-3a05fe0a3a96
|
25
|
|
3D facial features in Andersen-Tawil syndrome: a family report, file dfa8b994-d7f3-748b-e053-3a05fe0a3a96
|
20
|
|
Respiratory function and therapeutic expectations in DMD: families experience and perspective, file dfa8b9a7-5277-748b-e053-3a05fe0a3a96
|
20
|
|
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy, file 2f547a8b-5599-4f9f-8dc6-451ecfd04d2a
|
17
|
|
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience, file 3db7aa29-3051-4276-b67e-38bcb8801dad
|
14
|
|
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired, file 7ec88378-a24e-4362-a772-c82675e2c23b
|
11
|
|
Inhibitory action of acetylcholine, baclofen and GTP-gamma-S on calcium channels in adult rat sensory neurons, file dfa8b990-7dda-748b-e053-3a05fe0a3a96
|
11
|
|
NOTCH3 gene mutations in subjects clinically suspected of CADASIL, file dfa8b990-888b-748b-e053-3a05fe0a3a96
|
10
|
|
A preliminary comparison between ECAS and ALS-CBS in classifying cognitive–behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients, file dfa8b9a8-063d-748b-e053-3a05fe0a3a96
|
9
|
|
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2, file dfa8b990-8369-748b-e053-3a05fe0a3a96
|
7
|
|
Being Yourself and Thinking About the Future in People With Motor Neuron Disease : a Grounded Theory of Self-care Processes, file dfa8b99a-dab2-748b-e053-3a05fe0a3a96
|
7
|
|
Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients, file dfa8b990-7e56-748b-e053-3a05fe0a3a96
|
6
|
|
Adattamento in Italiano e validazione del Dysphagia Handicap Index (I-DHI), file dfa8b9a9-31c0-748b-e053-3a05fe0a3a96
|
6
|
|
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey, file fcdc403d-3dfd-4020-922c-3f9d62db9175
|
6
|
|
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach, file 5a76d30b-352b-4ab4-bbf2-62fb131f7648
|
5
|
|
Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy, file dfa8b990-827a-748b-e053-3a05fe0a3a96
|
5
|
|
Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies, file dfa8b990-acc2-748b-e053-3a05fe0a3a96
|
5
|
|
207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies : management and implications for research, 27-29 June 2014, Naarden, The Netherlands, file dfa8b997-36f9-748b-e053-3a05fe0a3a96
|
5
|
|
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 dfa8b997-5847-748b-e053-3a05fe0a3a96
|
5
|
|
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome), file dfa8b990-7de6-748b-e053-3a05fe0a3a96
|
4
|
|
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1(DM-1) and in proximal myotonic myopathy (PROMM/DM-2), file dfa8b990-7de9-748b-e053-3a05fe0a3a96
|
4
|
|
Gonadal failure is associated with visceral adiposity in myotonic dystrophies, file dfa8b994-db7c-748b-e053-3a05fe0a3a96
|
4
|
|
The experience of meditation for people with amyotrophic lateral sclerosis and their caregivers : a qualitative analysis, file dfa8b997-21a6-748b-e053-3a05fe0a3a96
|
4
|
|
Hypothyroidism unmasking proximal myotonic myopathy, file dfa8b990-7de4-748b-e053-3a05fe0a3a96
|
3
|
|
Proximal myotonic myopathy : a syndrome with a favourable prognosis?, file dfa8b990-7de8-748b-e053-3a05fe0a3a96
|
3
|
|
Proximal myotonic dystrophy mimicking progressive muscular atrophy, file dfa8b990-7def-748b-e053-3a05fe0a3a96
|
3
|
|
Neural regulation of acid maltase in an unusual adult onset deficiency, file dfa8b990-8117-748b-e053-3a05fe0a3a96
|
3
|
| Totale |
17.636 |