| 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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Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA), file e14fb26e-e2f7-3de1-e053-1705fe0ac030
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660
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Insulin-like growth factor 1 signaling in motor neuron and polyglutamine diseases: From molecular pathogenesis to therapeutic perspectives, file e14fb26c-ce03-3de1-e053-1705fe0ac030
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414
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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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From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?, file e14fb26a-7017-3de1-e053-1705fe0ac030
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263
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition), file e14fb26e-88bd-3de1-e053-1705fe0ac030
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232
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Protein Arginine Methyltransferase 6 Enhances Polyglutamine-Expanded Androgen Receptor Function and Toxicity in Spinal and Bulbar Muscular Atrophy, file e14fb26a-701a-3de1-e053-1705fe0ac030
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159
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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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Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing, file e14fb26a-7be1-3de1-e053-1705fe0ac030
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145
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Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy, file e14fb26a-76c6-3de1-e053-1705fe0ac030
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124
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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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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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Post-translational modifications and protein quality control in motor neuron and polyglutamine diseases, file e14fb26a-7289-3de1-e053-1705fe0ac030
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88
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Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes, file e14fb26c-8d2e-3de1-e053-1705fe0ac030
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73
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The pVHL neglected functions, a tale of hypoxia-dependent and -independent regulations in cancer, file e14fb26d-3107-3de1-e053-1705fe0ac030
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63
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Increased transcription of transglutaminase 1 mediates neuronal death in in vitro models of neuronal stress and Aβ1–42-mediated toxicity, file e14fb26c-c5d2-3de1-e053-1705fe0ac030
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62
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NURR1 and ERR1 modulate the expression of genes of a DRD2 co-expression network enriched for schizophrenia risk, file e14fb26c-1c62-3de1-e053-1705fe0ac030
|
60
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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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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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Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons, file e14fb26f-73f2-3de1-e053-1705fe0ac030
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32
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Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients, file e14fb26c-264b-3de1-e053-1705fe0ac030
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17
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Editorial Comment to Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy, file e14fb270-2079-3de1-e053-1705fe0ac030
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16
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Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity, file e14fb26f-087a-3de1-e053-1705fe0ac030
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14
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Neurotoxic effects of androgens in spinal and bulbar muscular atrophy, file e14fb26a-707f-3de1-e053-1705fe0ac030
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12
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Differential autophagy power in the spinal cord and muscle of transgenic ALS mice, file e14fb26a-786b-3de1-e053-1705fe0ac030
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12
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Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy, file e14fb26e-792d-3de1-e053-1705fe0ac030
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12
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The E3 ubiquitin-protein ligase MDM2 is a novel interactor of the von Hippel-Lindau tumor suppressor, file e14fb26e-a78b-3de1-e053-1705fe0ac030
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12
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Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function, file 0c0f5a6d-829d-4f41-a08b-d2910887fdc1
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11
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Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis, file e14fb26f-1ce3-3de1-e053-1705fe0ac030
|
11
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AR cooperates with SMAD4 to maintain skeletal muscle homeostasis, file e14fb270-5991-3de1-e053-1705fe0ac030
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11
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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome, file 0a9bc4fe-53db-4908-b25a-10019f2cc1ff
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10
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Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity, file e14fb26a-7c67-3de1-e053-1705fe0ac030
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10
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Skeletal Muscle Pathogenesis in Polyglutamine Diseases, file 10524a44-51e9-4db8-9e25-e10b51f4ab67
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9
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Huntingtin-mediated axonal transport requires arginine methylation by PRMT6, file e14fb26e-7bfe-3de1-e053-1705fe0ac030
|
9
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Protein Arginine Methyltransferase 1 and 8 Interact with FUS to Modify Its Sub-Cellular Distribution and Toxicity In Vitro and In Vivo, file e14fb26a-770b-3de1-e053-1705fe0ac030
|
8
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Pharmacological inactivation of the prion protein by targeting a folding intermediate, file e14fb26e-8e99-3de1-e053-1705fe0ac030
|
7
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Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization, file e14fb26e-a790-3de1-e053-1705fe0ac030
|
7
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Mitochondrial abnormalities in spinal and bulbar muscular atrophy, file e14fb26a-7cd5-3de1-e053-1705fe0ac030
|
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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Neurite extension occurs in the absence of regulated exocytosis in PC12 subclones, file e14fb26a-7092-3de1-e053-1705fe0ac030
|
4
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241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15-17th February, 2019 Hoofddorp, The Netherlands, file e14fb26c-1833-3de1-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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Introduction to the Special Issue “Skeletal Muscle Atrophy: Mechanisms at a Cellular Level”, file fd0c99e2-c20b-40ee-9c98-2f8fd6b2da45
|
4
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Synaptophysin I Controls the Targeting of VAMP2/Synaptobrevin II to Synaptic Vesicles, file e14fb26a-7296-3de1-e053-1705fe0ac030
|
3
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MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease, file e14fb26c-c5d1-3de1-e053-1705fe0ac030
|
3
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Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy, file e14fb26a-707d-3de1-e053-1705fe0ac030
|
2
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Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice, file e14fb26a-770e-3de1-e053-1705fe0ac030
|
2
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Fluorescence resonance energy transfer detection of synaptophysin I and vesicle-associated membrane protein 2 interactions during exocytosis from single live synapses, file e14fb26a-770f-3de1-e053-1705fe0ac030
|
2
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Clenbuterol-sensitive delayed outward potassium currents in a cell model of spinal and bulbar muscular atrophy, file e14fb26e-422c-3de1-e053-1705fe0ac030
|
2
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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
|
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
|
1
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Snake presynaptic neurotoxins with phospholipase A2 activity induce swelling of synaptic boutons and exoxytosis of synaptic vesicles, file e14fb269-2e21-3de1-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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Mutations in TGM6 induce the unfolded protein response in SCA35, file e14fb26a-7016-3de1-e053-1705fe0ac030
|
1
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In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy, file e14fb26a-7018-3de1-e053-1705fe0ac030
|
1
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Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration, file e14fb26a-76c4-3de1-e053-1705fe0ac030
|
1
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Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy, file e14fb26a-7708-3de1-e053-1705fe0ac030
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1
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Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy, file e14fb26a-7bdf-3de1-e053-1705fe0ac030
|
1
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Identification and Expression of Acetylcholinesterase in Octopus vulgaris Arm Development and Regeneration: a Conserved Role for ACHE?, file e14fb26a-7c59-3de1-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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MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease, file e14fb26c-b221-3de1-e053-1705fe0ac030
|
1
|
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ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease, file e14fb26c-f2be-3de1-e053-1705fe0ac030
|
1
|
| Totale |
4.345 |