PENNUTO, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 4.844
AS - Asia 649
EU - Europa 641
SA - Sud America 15
OC - Oceania 1
Totale 6.150
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Nazione #
US - Stati Uniti d'America 4.839
IT - Italia 372
CN - Cina 312
SG - Singapore 241
VN - Vietnam 62
FI - Finlandia 48
GB - Regno Unito 44
DE - Germania 39
FR - Francia 31
HK - Hong Kong 24
RU - Federazione Russa 22
SE - Svezia 21
NL - Olanda 13
UA - Ucraina 13
BR - Brasile 12
IE - Irlanda 10
LU - Lussemburgo 9
BE - Belgio 5
IN - India 5
CA - Canada 4
AR - Argentina 3
ES - Italia 3
KR - Corea 3
CH - Svizzera 2
GR - Grecia 2
PL - Polonia 2
AE - Emirati Arabi Uniti 1
AT - Austria 1
AU - Australia 1
BG - Bulgaria 1
CZ - Repubblica Ceca 1
MX - Messico 1
NO - Norvegia 1
PT - Portogallo 1
TR - Turchia 1
Totale 6.150
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Città #
Fairfield 1.062
Ashburn 454
Woodbridge 428
Houston 367
Seattle 355
Cambridge 339
Wilmington 262
Chandler 252
Singapore 191
Ann Arbor 187
Santa Clara 120
San Diego 115
Padova 109
Boardman 106
Beijing 94
Princeton 78
Medford 74
Dong Ket 61
Des Moines 48
Roxbury 45
New York 39
Helsinki 32
Nanjing 29
Milan 26
Hong Kong 20
Washington 16
London 15
Jinan 12
Nanchang 12
Rome 12
Guangzhou 11
Hebei 11
Jacksonville 11
Kilburn 11
Shenyang 11
Dublin 9
Kharkiv 9
Hesperange 8
Phoenix 8
Trento 8
Treviso 8
Verona 8
Jiaxing 7
Venice 7
Haikou 6
Lappeenranta 6
Zhengzhou 6
Florence 5
Paris 5
St Louis 5
Vicenza 5
Hangzhou 4
Hounslow 4
Karlsruhe 4
Kunming 4
Munich 4
Tianjin 4
Turin 4
Aprilia 3
Balestrino 3
Barcelona 3
Brussels 3
Changsha 3
Chicago 3
Cumming 3
Dallas 3
Frankfurt am Main 3
Gelsenkirchen 3
Inzago 3
Legnago 3
Magenta 3
Montegrosso d'Asti 3
Montréal 3
Ningbo 3
Pune 3
Selvazzano Dentro 3
São Paulo 3
Amsterdam 2
Borås 2
Busto Arsizio 2
Este 2
Fort Worth 2
Gdansk 2
Honolulu 2
Kraainem 2
Lanzhou 2
Los Angeles 2
Menlo Park 2
Naples 2
Nogaredo 2
Ogden 2
Paullo 2
Piove Di Sacco 2
Rimini 2
Rovereto 2
Shanghai 2
Taiyuan 2
Thiene 2
Vedano Olona 2
Wenzhou 2
Totale 5.256
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Nome #
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients 197
Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet 170
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 162
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 150
210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27-29 March, 2015, Naarden, The Netherlands 148
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy 141
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism 129
Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy 117
Pathogenesis of Polyglutamine Diseases 114
Protein Arginine Methyltransferase 6 Enhances Polyglutamine-Expanded Androgen Receptor Function and Toxicity in Spinal and Bulbar Muscular Atrophy 113
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy. 105
Insights into the genetic epidemiology of SBMA: prevalence estimation and multiple founder haplotypes in the Veneto Italian region. 103
CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis. 101
The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case 101
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity 97
Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease 96
B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy 93
Taipoxin induces synaptic vesicle exocytosis and disrupts the interaction of synaptophysin I with VAMP2 91
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice 89
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype 87
Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis 86
Neurotoxic effects of androgens in spinal and bulbar muscular atrophy 85
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 85
Snake presynaptic neurotoxins with phospholipase A2 activity induce swelling of synaptic boutons and exoxytosis of synaptic vesicles 83
Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy 82
Synaptophysin: Leading actor or walk-on role in synaptic vesicle exocytosis? 80
Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA 80
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency 77
Interplay of the E box, the cyclic AMP response element, and HTF4/HEB in transcriptional regulation of the neurospecific, neurotrophin-inducible vgf gene 76
Synaptophysin I Controls the Targeting of VAMP2/Synaptobrevin II to Synaptic Vesicles 76
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice 76
Catechol-O-methyl transferase modulates cognition in late life: Evidence and implications for cognitive enhancement 74
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes 73
Post-translational modifications of expanded polyglutamine proteins: Impact on neurotoxicity 72
Fluorescence resonance energy transfer detection of synaptophysin I and vesicle-associated membrane protein 2 interactions during exocytosis from single live synapses 71
Huntingtin-mediated axonal transport requires arginine methylation by PRMT6 71
Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons 70
NURR1 and ERR1 modulate the expression of genes of a DRD2 co-expression network enriched for schizophrenia risk 69
Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization 69
Neurite extension occurs in the absence of regulated exocytosis in PC12 subclones 68
ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease 68
The E3 ubiquitin-protein ligase MDM2 is a novel interactor of the von Hippel-Lindau tumor suppressor 67
From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet? 66
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 66
Insulin-like growth factor 1 signaling in motor neuron and polyglutamine diseases: From molecular pathogenesis to therapeutic perspectives 66
Mutations in TGM6 induce the unfolded protein response in SCA35 65
Differential autophagy power in the spinal cord and muscle of transgenic ALS mice 64
Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy 63
Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease) 63
Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing 62
Protein Arginine Methyltransferase 1 and 8 Interact with FUS to Modify Its Sub-Cellular Distribution and Toxicity In Vitro and In Vivo 62
Revisiting default mode network function in major depression: Evidence for disrupted subsystem connectivity 60
Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA) 60
New routes to therapy for spinal and bulbar muscular atrophy 59
Mitochondrial abnormalities in spinal and bulbar muscular atrophy 59
Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases 59
Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients 59
Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration 58
Identification and Expression of Acetylcholinesterase in Octopus vulgaris Arm Development and Regeneration: a Conserved Role for ACHE? 58
MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease 58
Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis 58
In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy 56
Increased transcription of transglutaminase 1 mediates neuronal death in in vitro models of neuronal stress and Aβ1–42-mediated toxicity 56
241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15-17th February, 2019 Hoofddorp, The Netherlands 55
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B 54
Post-translational modifications and protein quality control in motor neuron and polyglutamine diseases 53
Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy 52
Native functions of the androgen receptor are essential to pathogenesis in a drosophila model of spinobulbar muscular atrophy 49
Pharmacological inactivation of the prion protein by targeting a folding intermediate 49
Pituitary Adenylyl Cyclase Activating Polypeptide (PACAP) Signaling and the Cell Cycle Machinery in Neurodegenerative Diseases 46
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle 45
The pVHL neglected functions, a tale of hypoxia-dependent and -independent regulations in cancer 45
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice 42
Clenbuterol-sensitive delayed outward potassium currents in a cell model of spinal and bulbar muscular atrophy 41
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function 40
NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction 34
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis 34
Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice 33
Mutational screening of androgen receptor gene in 8224 men of infertile couples 30
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity 29
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome 28
Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy 28
Skeletal Muscle Pathogenesis in Polyglutamine Diseases 23
Introduction to the Special Issue “Skeletal Muscle Atrophy: Mechanisms at a Cellular Level” 22
Induced pluripotent stem cells for modeling Smith-Magenis syndrome 22
Editorial Comment to Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy 21
271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands 20
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) 15
Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle 11
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene 11
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene 7
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A) 7
Increased SIRT3 combined with PARP inhibition rescues motor function of SBMA mice 6
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region 5
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 5
Totale 6.301
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Categoria #
all - tutte 28.399
article - articoli 28.095
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 304
Totale 56.798
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020823 0 0 0 0 0 86 134 151 174 152 77 49
2020/2021970 54 65 39 71 83 33 24 93 123 137 115 133
2021/20221.283 46 195 222 67 33 59 87 110 54 37 134 239
2022/2023656 118 68 10 62 97 74 10 87 79 4 29 18
2023/2024687 23 48 71 57 81 117 77 29 29 21 66 68
2024/2025677 17 148 75 77 288 72 0 0 0 0 0 0
Totale 6.301