IRIS UniCatt

Tiziano, Francesco Danilo
 Distribuzione geografica
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Continente #
EU - Europa 3.010
NA - Nord America 2.919
AS - Asia 1.524
SA - Sud America 265
AF - Africa 52
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.774
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Nazione #
US - Stati Uniti d'America 2.882
DE - Germania 833
SE - Svezia 612
CN - Cina 569
SG - Singapore 485
IT - Italia 441
BR - Brasile 235
UA - Ucraina 228
PL - Polonia 169
FR - Francia 152
IE - Irlanda 143
GB - Regno Unito 106
ID - Indonesia 89
FI - Finlandia 86
IN - India 76
TR - Turchia 74
RU - Federazione Russa 70
KR - Corea 57
HK - Hong Kong 49
CI - Costa d'Avorio 39
NL - Olanda 37
JP - Giappone 35
IR - Iran 24
BE - Belgio 23
CA - Canada 23
AT - Austria 20
CH - Svizzera 15
ES - Italia 14
AR - Argentina 11
VN - Vietnam 11
CZ - Repubblica Ceca 10
LT - Lituania 8
PK - Pakistan 8
BD - Bangladesh 7
SK - Slovacchia (Repubblica Slovacca) 7
CO - Colombia 6
IL - Israele 6
MX - Messico 6
SA - Arabia Saudita 6
AE - Emirati Arabi Uniti 5
AL - Albania 4
MA - Marocco 4
VE - Venezuela 4
ZA - Sudafrica 4
BG - Bulgaria 3
CL - Cile 3
DK - Danimarca 3
NO - Norvegia 3
PA - Panama 3
PY - Paraguay 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
BY - Bielorussia 2
CR - Costa Rica 2
CY - Cipro 2
DZ - Algeria 2
EG - Egitto 2
GE - Georgia 2
GR - Grecia 2
HR - Croazia 2
HU - Ungheria 2
JO - Giordania 2
KZ - Kazakistan 2
LK - Sri Lanka 2
LV - Lettonia 2
MD - Moldavia 2
MY - Malesia 2
PE - Perù 2
PT - Portogallo 2
RO - Romania 2
TW - Taiwan 2
UZ - Uzbekistan 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AG - Antigua e Barbuda 1
AZ - Azerbaigian 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
EE - Estonia 1
HN - Honduras 1
KE - Kenya 1
KG - Kirghizistan 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LI - Liechtenstein 1
LU - Lussemburgo 1
ME - Montenegro 1
NZ - Nuova Zelanda 1
PH - Filippine 1
RS - Serbia 1
TH - Thailandia 1
TM - Turkmenistan 1
Totale 7.774
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Città #
Chandler 566
Singapore 285
Ashburn 273
Jacksonville 148
Warsaw 147
Dublin 139
San Mateo 109
Nanjing 96
Jakarta 87
Wilmington 83
Ann Arbor 74
Milan 74
Houston 69
Woodbridge 68
Fairfield 66
Rome 62
New York 61
Munich 59
Boston 57
Seattle 55
Los Angeles 54
Cattolica 53
Nürnberg 49
Dearborn 42
Lawrence 42
Seoul 42
Hefei 40
Nanchang 40
Abidjan 39
Moscow 39
Izmir 38
Hong Kong 35
Redwood City 35
Beijing 34
Helsinki 33
Boardman 29
Bremen 28
Hebei 28
Marseille 27
Princeton 26
Cambridge 24
Detroit 24
Frankfurt am Main 24
Hangzhou 22
Norwalk 22
Guangzhou 21
Kunming 20
London 19
Chicago 18
Nuremberg 18
São Paulo 18
The Dalles 18
Tianjin 17
Shenyang 16
Augusta 15
Brussels 15
Mountain View 15
University Park 15
Andover 14
Jinan 14
Changsha 13
Düsseldorf 13
Jiaxing 13
Lauterbourg 12
Zhengzhou 12
Amsterdam 11
Washington 11
Falkenstein 10
Hanoi 10
Leawood 10
Pune 10
Zurich 10
Brasília 9
Brno 9
Redmond 9
Shanghai 9
Shenzhen 9
Tokyo 9
Toronto 9
Naaldwijk 8
San Diego 8
Taizhou 8
Vienna 8
Bologna 7
Brooklyn 7
Kish 7
Milwaukee 7
Old Bridge 7
Ottawa 7
San Francisco 7
Fremont 6
Kraków 6
Portsmouth 6
Santa Clara 6
Simi Valley 6
Stockholm 6
Turin 6
Buffalo 5
Changchun 5
Edinburgh 5
Totale 4.036
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Nome #
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study 347
Sustainable method for Alzheimer's prediction in Mild Cognitive Impairment: EEG connectivity and graph theory combined with ApoE 317
Applicazioni dell'ingegneria genetica in medicina 218
Spinal muscular atrophy 197
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study 170
A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease 147
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 140
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results 140
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism 133
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 130
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 129
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 128
A current approach to heart failure in Duchenne muscular dystrophy 128
Biomarkers in rare disorders: the experience with spinal muscular atrophy 116
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 115
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 112
The complex interaction between APOE promoter and AD: an Italian case-control study 110
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 109
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 109
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 108
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 104
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 103
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 102
A history of mental retardation 101
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 101
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 101
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population 100
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study 100
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 100
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 97
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 94
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy 91
Developmental milestones in type I spinal muscular atrophy 91
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 89
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population 88
Solving the puzzle of spinal muscular atrophy: what are the missing pieces? 88
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 88
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 86
Gene targeting restricted to mouse striated muscle lineage. 83
Longitudinal assessments in discordant twins with SMA 83
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 82
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 81
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 80
Developmental milestones in type I spinal muscular atrophy 79
Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients 78
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy 77
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. 77
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 77
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 77
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 77
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 77
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy 77
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics 75
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 74
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 73
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium 72
Refined characterization of the expression and stability of the SMN gene products 72
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 72
Recognizable facial features in patients with alternating hemiplegia of childhood. 70
Nusinersen in type 0 spinal muscular atrophy: should we treat? 69
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 69
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 68
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 67
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 65
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 61
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 58
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] 57
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 56
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 53
Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients 53
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 52
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0 52
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 50
Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy 50
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 46
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. 45
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 44
An observational study of functional abilities in infants, children, and adults with type 1 SMA 41
An observational study of functional abilities in infants, children, and adults with type 1 SMA 41
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 39
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 36
An observational study of functional abilities in infants, children, and adults with type 1 SMA 35
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 33
Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. 31
Analysis of allelic distribution of ApoE promoter polymorphism: relation to gender, age at onset, and var epsilon epsilon 4 in a sample of sporardic AD patients. 30
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study 27
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study 24
Structural and functional alterations of neurons derived from sporadic Alzheimer’s disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis 19
Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine 18
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series 17
Apoe epsilon2-epsilon4 genotype is a possible risk factor for prymary progressive aphasia 11
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands 10
Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study 2
Totale 7.869
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Categoria #
all - tutte 35.424
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 35.424
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202059 0 0 0 0 0 0 0 0 0 0 0 59
2020/2021580 19 53 59 49 68 40 89 11 67 30 86 9
2021/2022684 36 44 15 69 44 20 15 114 40 38 105 144
2022/20231.659 210 239 113 238 145 182 96 149 189 27 57 14
2023/2024948 36 218 59 94 36 114 75 37 13 40 98 128
2024/20251.659 56 50 127 71 188 63 61 119 295 183 399 47
Totale 7.869