IRIS PubliCatt

Tiziano, Francesco Danilo
 Distribuzione geografica
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Continente #
NA - Nord America 2.735
EU - Europa 2.688
AS - Asia 1.087
AF - Africa 42
SA - Sud America 20
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.575
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Nazione #
US - Stati Uniti d'America 2.711
DE - Germania 771
SE - Svezia 547
CN - Cina 448
IT - Italia 383
SG - Singapore 268
UA - Ucraina 228
PL - Polonia 159
IE - Irlanda 140
FR - Francia 99
GB - Regno Unito 88
ID - Indonesia 87
FI - Finlandia 74
TR - Turchia 70
RU - Federazione Russa 67
IN - India 64
CI - Costa d'Avorio 39
HK - Hong Kong 35
NL - Olanda 33
JP - Giappone 32
KR - Corea 27
BE - Belgio 23
IR - Iran 23
CA - Canada 17
CH - Svizzera 15
ES - Italia 13
VN - Vietnam 10
BR - Brasile 9
CZ - Repubblica Ceca 9
AR - Argentina 6
AT - Austria 6
SA - Arabia Saudita 6
SK - Slovacchia (Repubblica Slovacca) 5
AE - Emirati Arabi Uniti 3
BD - Bangladesh 3
IL - Israele 3
LT - Lituania 3
NO - Norvegia 3
PA - Panama 3
PK - Pakistan 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
CL - Cile 2
CO - Colombia 2
CR - Costa Rica 2
DK - Danimarca 2
EG - Egitto 2
GR - Grecia 2
HR - Croazia 2
HU - Ungheria 2
MX - Messico 2
PT - Portogallo 2
RO - Romania 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BG - Bulgaria 1
EC - Ecuador 1
EE - Estonia 1
KG - Kirghizistan 1
KW - Kuwait 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LV - Lettonia 1
MA - Marocco 1
MD - Moldavia 1
ME - Montenegro 1
RS - Serbia 1
TH - Thailandia 1
TW - Taiwan 1
Totale 6.575
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Città #
Chandler 566
Ashburn 262
Singapore 212
Jacksonville 148
Warsaw 143
Dublin 137
San Mateo 109
Nanjing 96
Jakarta 87
Wilmington 81
Ann Arbor 74
Houston 69
Woodbridge 68
Fairfield 66
New York 60
Munich 57
Boston 56
Milan 55
Cattolica 53
Seattle 50
Nürnberg 49
Rome 45
Dearborn 42
Lawrence 42
Nanchang 40
Abidjan 39
Moscow 39
Izmir 38
Los Angeles 35
Redwood City 35
Beijing 32
Boardman 29
Bremen 28
Hebei 28
Marseille 27
Princeton 26
Cambridge 24
Detroit 24
Hong Kong 22
Norwalk 22
Hangzhou 21
Helsinki 21
Kunming 20
Guangzhou 17
Tianjin 17
Shenyang 16
Augusta 15
Brussels 15
Mountain View 15
University Park 15
Andover 14
Jinan 14
Jiaxing 13
London 13
Changsha 12
Seoul 12
Zhengzhou 12
Washington 11
Chicago 10
Leawood 10
Zurich 10
Brno 9
Hanoi 9
Redmond 9
Shenzhen 9
Amsterdam 8
Naaldwijk 8
Pune 8
San Diego 8
Shanghai 8
Taizhou 8
Toronto 8
Bologna 7
Hefei 7
Kish 7
Milwaukee 7
Old Bridge 7
Fremont 6
Kraków 6
Simi Valley 6
Tokyo 6
Changchun 5
Edinburgh 5
Kocaeli 5
Lancaster 5
Namdong-gu 5
Ottawa 5
San Francisco 5
Turin 5
Bitonto 4
Buenos Aires 4
Central District 4
Florence 4
Madrid 4
Riyadh 4
Tappahannock 4
Valladolid 4
Verona 4
Vigevano 4
Alcamo 3
Totale 3.652
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Nome #
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study 312
Sustainable method for Alzheimer's prediction in Mild Cognitive Impairment: EEG connectivity and graph theory combined with ApoE 296
Applicazioni dell'ingegneria genetica in medicina 210
Spinal muscular atrophy 191
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 151
A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease 136
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 126
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 126
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results 125
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism 121
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 120
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 114
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 110
Biomarkers in rare disorders: the experience with spinal muscular atrophy 107
A current approach to heart failure in Duchenne muscular dystrophy 107
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 104
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 102
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 100
The complex interaction between APOE promoter and AD: an Italian case-control study 97
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 93
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 93
A history of mental retardation 92
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 92
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 92
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 91
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 90
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 89
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 86
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy 86
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study 86
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 84
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 83
Solving the puzzle of spinal muscular atrophy: what are the missing pieces? 80
Developmental milestones in type I spinal muscular atrophy 79
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 78
Gene targeting restricted to mouse striated muscle lineage. 77
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 73
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. 69
Developmental milestones in type I spinal muscular atrophy 69
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 69
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 69
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 69
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 68
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy 68
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 68
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 67
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics 66
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 66
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 65
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 65
Longitudinal assessments in discordant twins with SMA 65
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy 64
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 63
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 63
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 62
Recognizable facial features in patients with alternating hemiplegia of childhood. 62
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 61
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 61
Refined characterization of the expression and stability of the SMN gene products 57
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 56
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium 55
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 55
Nusinersen in type 0 spinal muscular atrophy: should we treat? 55
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 55
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] 49
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 47
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 46
Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients 45
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0 44
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. 39
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 39
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 34
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 33
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 30
An observational study of functional abilities in infants, children, and adults with type 1 SMA 30
An observational study of functional abilities in infants, children, and adults with type 1 SMA 29
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 26
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 23
An observational study of functional abilities in infants, children, and adults with type 1 SMA 23
Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. 18
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 17
Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy 16
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. 16
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 15
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 14
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study 10
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study 5
Apoe epsilon2-epsilon4 genotype is a possible risk factor for prymary progressive aphasia 4
Totale 6.663
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Categoria #
all - tutte 28.393
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 28.393
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020450 0 0 0 0 38 63 73 26 63 34 94 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
2024/2025453 56 50 127 71 149 0 0 0 0 0 0 0
Totale 6.663