| Nome |
# |
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Insights into the genetic epidemiology of SBMA: prevalence estimation and multiple founder haplotypes in the Veneto Italian region., file e14fb26b-3f1e-3de1-e053-1705fe0ac030
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835
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Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle, file bde68252-cd7a-4f86-86b7-68e12c56ec7c
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276
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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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234
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Erythropoietin in amyotrophic lateral sclerosis: A multicentre, randomised, double blind, placebo controlled, phase III study, file e14fb268-f68e-3de1-e053-1705fe0ac030
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216
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null, file e14fb269-5c0d-3de1-e053-1705fe0ac030
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204
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Human neural stem cell transplantation in ALS: initial results from a phase I trial, file e14fb268-fe9e-3de1-e053-1705fe0ac030
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163
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Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients, file e14fb268-f598-3de1-e053-1705fe0ac030
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157
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Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet, file e14fb268-f81d-3de1-e053-1705fe0ac030
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154
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Functional changes in Becker muscular dystrophy: Implications for clinical trials in dystrophinopathies, file e14fb268-ee1f-3de1-e053-1705fe0ac030
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151
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Hypnosis-based psychodynamic treatment in ALS: a longitudinal study on patients and their caregivers, file e14fb268-37fa-3de1-e053-1705fe0ac030
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138
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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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Impact on children of a parent with ALS: a case-control study, file e14fb268-ff25-3de1-e053-1705fe0ac030
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117
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Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease, file e14fb26a-7c17-3de1-e053-1705fe0ac030
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115
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Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study., file e14fb26b-b832-3de1-e053-1705fe0ac030
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113
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Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism, file e14fb26c-4427-3de1-e053-1705fe0ac030
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95
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Empathy-based supportive treatment in amyotrophic lateral sclerosis: A pragmatic study, file e14fb26e-7f2f-3de1-e053-1705fe0ac030
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86
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Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome, file e14fb26c-dcea-3de1-e053-1705fe0ac030
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76
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Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients, file e14fb26e-f279-3de1-e053-1705fe0ac030
|
55
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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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Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet, file e14fb26f-8f69-3de1-e053-1705fe0ac030
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41
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Evaluation of peripherin in biofluids of patients with motor neuron diseases, file e14fb26f-0914-3de1-e053-1705fe0ac030
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34
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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
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24
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Enhanced neural empathic responses in patients with Spino-Bulbar Muscular Atrophy: An electrophysiological study, file e14fb26d-b1c1-3de1-e053-1705fe0ac030
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16
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Efficacy of Hypnosis-Based Treatment in Amyotrophic Lateral Sclerosis: A Pilot Study, file e14fb269-0459-3de1-e053-1705fe0ac030
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12
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Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes, file e14fb26d-4031-3de1-e053-1705fe0ac030
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7
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Collagen XIX alpha 1 improves prognosis in amyotrophic lateral sclerosis, file e14fb26f-0170-3de1-e053-1705fe0ac030
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7
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SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells, file e14fb269-f94d-3de1-e053-1705fe0ac030
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6
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The relevance of migraine in the clinical spectrum of mitochondrial disorders, file e14fb270-32ea-3de1-e053-1705fe0ac030
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5
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Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance, file e9a2582b-4c70-4203-b8cc-76707310ccd3
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5
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LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice, file 6b4a2efb-b81e-44e3-acff-73b0c8247c98
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4
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis, file e14fb268-eb07-3de1-e053-1705fe0ac030
|
4
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Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study, file e14fb268-ef4a-3de1-e053-1705fe0ac030
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4
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Factors predicting survival in ALS: a multicenter Italian study, file e14fb268-f7b4-3de1-e053-1705fe0ac030
|
4
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Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet, file e14fb26e-852a-3de1-e053-1705fe0ac030
|
4
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Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy, file e14fb270-44a3-3de1-e053-1705fe0ac030
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4
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Brain Stem Glucose Hypermetabolism in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia and Shortened Survival: An 18F-FDG PET/MRI Study, file 07f6bf14-bb31-4ef0-9a64-1314a3ee0e03
|
3
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Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients, file 22feb662-485b-4bce-901b-268f3f92bb76
|
3
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A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis., file e14fb268-4bb1-3de1-e053-1705fe0ac030
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3
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Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy., file e14fb268-514e-3de1-e053-1705fe0ac030
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3
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Assessment of patients with idiopathic inflammatory myopathies and isolated creatin-kinase elevation, file e14fb268-5cbd-3de1-e053-1705fe0ac030
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3
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Progress in enzyme replacement therapy in glycogen storage disease type II, file e14fb267-8f32-3de1-e053-1705fe0ac030
|
2
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The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report, file e14fb268-5cba-3de1-e053-1705fe0ac030
|
2
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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations, file e14fb268-84fa-3de1-e053-1705fe0ac030
|
2
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis, file e14fb268-f394-3de1-e053-1705fe0ac030
|
2
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Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy’s Disease), file e14fb268-f822-3de1-e053-1705fe0ac030
|
2
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The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease, file e14fb269-02e5-3de1-e053-1705fe0ac030
|
2
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Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease, file a0095f15-e2e6-43a7-ae21-14e479602286
|
1
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Right hemisphere dysfunction and emotional processing in ALS: an fMRI study, file e14fb267-85ca-3de1-e053-1705fe0ac030
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1
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Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis, file e14fb267-99cb-3de1-e053-1705fe0ac030
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1
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Survival and quality of life after tracheostomy for acute respiratory failure in patients with amyotrophic lateral sclerosis, file e14fb268-5149-3de1-e053-1705fe0ac030
|
1
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Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants., file e14fb268-5cb8-3de1-e053-1705fe0ac030
|
1
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Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy., file e14fb268-5d2f-3de1-e053-1705fe0ac030
|
1
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CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis., file e14fb268-5d31-3de1-e053-1705fe0ac030
|
1
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No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype, file e14fb268-909d-3de1-e053-1705fe0ac030
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1
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The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease, file e14fb268-ed4a-3de1-e053-1705fe0ac030
|
1
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Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease), file e14fb268-eef1-3de1-e053-1705fe0ac030
|
1
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TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations, file e14fb268-f1c7-3de1-e053-1705fe0ac030
|
1
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Cardiac function in types II and III spinal muscular atrophy: Should we change standards of care?, file e14fb268-f2ea-3de1-e053-1705fe0ac030
|
1
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Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy, file e14fb268-f39f-3de1-e053-1705fe0ac030
|
1
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Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients, file e14fb268-ff29-3de1-e053-1705fe0ac030
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1
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways., file e14fb269-02e8-3de1-e053-1705fe0ac030
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1
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210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27-29 March, 2015, Naarden, The Netherlands, file e14fb269-0429-3de1-e053-1705fe0ac030
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1
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The MITOS system predicts long-term survival in amyotrophic lateral sclerosis, file e14fb269-046c-3de1-e053-1705fe0ac030
|
1
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The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case, file e14fb269-bdff-3de1-e053-1705fe0ac030
|
1
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Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease), file e14fb26a-7e9b-3de1-e053-1705fe0ac030
|
1
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Safety, tolerability, and preliminary e cacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial, file e14fb26b-2276-3de1-e053-1705fe0ac030
|
1
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| Totale |
3.598 |