| Nome |
# |
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The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis, file dfa8b995-7828-748b-e053-3a05fe0a3a96
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652
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Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives, file dfa8b9a2-074e-748b-e053-3a05fe0a3a96
|
587
|
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The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis, file dfa8b995-8c4f-748b-e053-3a05fe0a3a96
|
431
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Anti-sulfatide reactivity in patients with celiac disease, file dfa8b998-6362-748b-e053-3a05fe0a3a96
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338
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SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis, file dfa8b993-8097-748b-e053-3a05fe0a3a96
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332
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Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes, file dfa8b991-51d1-748b-e053-3a05fe0a3a96
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291
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miRNA in spinal muscular atrophy pathogenesis and therapy, file dfa8b99a-5161-748b-e053-3a05fe0a3a96
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286
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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing, file dfa8b98f-7e39-748b-e053-3a05fe0a3a96
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259
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Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies, file dfa8b99e-fd91-748b-e053-3a05fe0a3a96
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258
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Histological effects of givinostat in boys with Duchenne muscular dystrophy, file dfa8b998-9002-748b-e053-3a05fe0a3a96
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245
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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders, file dfa8b99a-b10d-748b-e053-3a05fe0a3a96
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219
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24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy, file dfa8b990-93a4-748b-e053-3a05fe0a3a96
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192
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Nusinersen treatment and cerebrospinal fluid neurofilaments : An explorative study on Spinal Muscular Atrophy type 3 patients, file dfa8b9a1-a5d2-748b-e053-3a05fe0a3a96
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177
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6 minute walk test in duchenne MD patients with different mutations : 12 month changes, file dfa8b992-603a-748b-e053-3a05fe0a3a96
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158
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Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study, file dfa8b9a5-eca6-748b-e053-3a05fe0a3a96
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154
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Central nervous system involvement in common variable immunodeficiency: A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient, file dfa8b99c-f557-748b-e053-3a05fe0a3a96
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152
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Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene, file dfa8b9a4-3efb-748b-e053-3a05fe0a3a96
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145
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Genetic modifiers of duchenne muscular dystrophy and dilated cardiomyopathy, file dfa8b995-f692-748b-e053-3a05fe0a3a96
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143
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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 dfa8b99e-e1fb-748b-e053-3a05fe0a3a96
|
136
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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases, file dfa8b994-cc32-748b-e053-3a05fe0a3a96
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135
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Genetic modifiers of respiratory function in Duchenne muscular dystrophy, file dfa8b9a3-a2df-748b-e053-3a05fe0a3a96
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135
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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 dfa8b9a3-d010-748b-e053-3a05fe0a3a96
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130
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Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature, file dfa8b99d-4201-748b-e053-3a05fe0a3a96
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124
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Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature, file dfa8b99d-c37c-748b-e053-3a05fe0a3a96
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120
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Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature, file dfa8b99b-cc2f-748b-e053-3a05fe0a3a96
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116
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Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: More than meets the eye, file dfa8b99c-f387-748b-e053-3a05fe0a3a96
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108
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Ophthalmoplegia due to Miller Fisher syndrome in a patient with myasthenia gravis, file dfa8b99f-18a8-748b-e053-3a05fe0a3a96
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106
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Copy number variants account for a tiny fraction of undiagnosed myopathic patients, file dfa8b99d-420d-748b-e053-3a05fe0a3a96
|
98
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Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies, file dfa8b9a7-988d-748b-e053-3a05fe0a3a96
|
96
|
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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 dfa8b9a7-a6c3-748b-e053-3a05fe0a3a96
|
84
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Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4, file dfa8b9a3-8ffd-748b-e053-3a05fe0a3a96
|
69
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Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy, file dfa8b9a7-ab9d-748b-e053-3a05fe0a3a96
|
63
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Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease, file dfa8b99c-fe6a-748b-e053-3a05fe0a3a96
|
51
|
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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions, file dfa8b9a7-8a46-748b-e053-3a05fe0a3a96
|
47
|
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Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy, file dfa8b9a8-6d6f-748b-e053-3a05fe0a3a96
|
47
|
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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 dfa8b9a3-750d-748b-e053-3a05fe0a3a96
|
41
|
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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 dfa8b9aa-7963-748b-e053-3a05fe0a3a96
|
29
|
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Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy, file dfa8b9a7-bf06-748b-e053-3a05fe0a3a96
|
24
|
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Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy, file dfa8b9aa-6f91-748b-e053-3a05fe0a3a96
|
20
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Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene, file 161f95c4-a93b-45f3-8b15-6a5a657668b3
|
18
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|
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy, file 2f547a8b-5599-4f9f-8dc6-451ecfd04d2a
|
18
|
|
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature, file dfa8b99c-babf-748b-e053-3a05fe0a3a96
|
18
|
|
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions, file defd3383-9338-4f1e-984a-22a003fe2785
|
17
|
|
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study, file 43ee7dee-e3d9-4fe4-b3b1-0bd5ab9c3293
|
15
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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia, file 9d1c277e-d1a9-461e-abcc-1b4f47f32cef
|
15
|
|
Genetic modifiers of upper limb function in Duchenne muscular dystrophy, file b3ce06d1-03fd-433a-bf0b-034856167dde
|
13
|
|
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls, file 3d49b594-94a9-499f-ae2c-14984d6a2f6c
|
10
|
|
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy, file dfa8b993-809a-748b-e053-3a05fe0a3a96
|
10
|
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Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study, file 496e1bcc-04c0-4c0b-95bf-04ddadfe1982
|
7
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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies, file aef6b5b5-7972-4c3b-b9f4-059f3e9d11b3
|
7
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|
Therapeutic Development in Amyotrophic Lateral Sclerosis, file dfa8b997-4d57-748b-e053-3a05fe0a3a96
|
7
|
|
Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients, file dfa8b990-7e56-748b-e053-3a05fe0a3a96
|
6
|
|
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions, file dfa8b993-bbb6-748b-e053-3a05fe0a3a96
|
6
|
|
Therapeutic Development in Amyotrophic Lateral Sclerosis, file dfa8b997-1ce6-748b-e053-3a05fe0a3a96
|
6
|
|
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant, file 4330d81f-7031-4830-a0ba-b5ecb8402556
|
3
|
|
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease, file dfa8b99d-e852-748b-e053-3a05fe0a3a96
|
3
|
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The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy, file dfa8b9a7-a31f-748b-e053-3a05fe0a3a96
|
3
|
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Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability, file dfa8b992-8981-748b-e053-3a05fe0a3a96
|
2
|
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Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation, file dfa8b993-539e-748b-e053-3a05fe0a3a96
|
2
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|
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy, file dfa8b99f-a819-748b-e053-3a05fe0a3a96
|
2
|
|
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial, file dfa8b9a8-f7a6-748b-e053-3a05fe0a3a96
|
2
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Genetic modifiers of upper limb function in Duchenne muscular dystrophy, file 34410e60-56d1-4843-abe9-5c535d1ee28a
|
1
|
|
A novel splice-site mutation in SMN1 resulting in a very severe SMA1 phenotype, file dfa8b991-fe13-748b-e053-3a05fe0a3a96
|
1
|
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The Italian registry of limb girdle muscular dystrophy : natural history, genotype-phenotype correlations and outcome measures, file dfa8b993-29eb-748b-e053-3a05fe0a3a96
|
1
|
|
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy, file dfa8b993-b58d-748b-e053-3a05fe0a3a96
|
1
|
|
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients, file dfa8b995-88f8-748b-e053-3a05fe0a3a96
|
1
|
|
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients, file dfa8b995-989c-748b-e053-3a05fe0a3a96
|
1
|
|
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature, file dfa8b99b-bb56-748b-e053-3a05fe0a3a96
|
1
|
|
Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B, file dfa8b99c-f56c-748b-e053-3a05fe0a3a96
|
1
|
|
Poverty and immigration as a barrier to iodine intake and maternal adherence to iodine supplementation, file dfa8b99d-204f-748b-e053-3a05fe0a3a96
|
1
|
|
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives, file dfa8b9a2-50d7-748b-e053-3a05fe0a3a96
|
1
|
|
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation, file dfa8b9a5-90fd-748b-e053-3a05fe0a3a96
|
1
|
|
The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis, file dfa8b9a6-6905-748b-e053-3a05fe0a3a96
|
1
|
|
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy, file dfa8b9a8-ea24-748b-e053-3a05fe0a3a96
|
1
|
| Totale |
7.001 |