IRIS PubliCatt

Tiziano, Francesco Danilo
 Distribuzione geografica
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Continente #
NA - Nord America 2.610
EU - Europa 2.482
AS - Asia 659
AF - Africa 42
SA - Sud America 17
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.813
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Nazione #
US - Stati Uniti d'America 2.591
DE - Germania 741
SE - Svezia 543
CN - Cina 399
IT - Italia 322
UA - Ucraina 221
PL - Polonia 159
IE - Irlanda 135
FR - Francia 94
GB - Regno Unito 82
FI - Finlandia 71
IN - India 60
TR - Turchia 52
CI - Costa d'Avorio 39
HK - Hong Kong 34
JP - Giappone 32
NL - Olanda 30
IR - Iran 22
KR - Corea 20
BE - Belgio 17
CA - Canada 12
CH - Svizzera 11
ES - Italia 11
RU - Federazione Russa 10
SG - Singapore 10
VN - Vietnam 10
BR - Brasile 7
AR - Argentina 6
SA - Arabia Saudita 6
AT - Austria 5
SK - Slovacchia (Repubblica Slovacca) 5
AE - Emirati Arabi Uniti 3
BD - Bangladesh 3
CZ - Repubblica Ceca 3
NO - Norvegia 3
PA - Panama 3
AU - Australia 2
CL - Cile 2
CR - Costa Rica 2
DK - Danimarca 2
EG - Egitto 2
GR - Grecia 2
HR - Croazia 2
HU - Ungheria 2
IL - Israele 2
MX - Messico 2
PT - Portogallo 2
RO - Romania 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
CO - Colombia 1
EC - Ecuador 1
EE - Estonia 1
ID - Indonesia 1
KW - Kuwait 1
KZ - Kazakistan 1
LI - Liechtenstein 1
MA - Marocco 1
ME - Montenegro 1
PK - Pakistan 1
RS - Serbia 1
TH - Thailandia 1
TW - Taiwan 1
Totale 5.813
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Città #
Chandler 554
Ashburn 252
Jacksonville 146
Warsaw 143
Dublin 132
San Mateo 107
Nanjing 93
Wilmington 78
Ann Arbor 74
Houston 68
Fairfield 66
Woodbridge 65
New York 57
Boston 56
Cattolica 51
Seattle 50
Munich 49
Nürnberg 48
Milan 46
Lawrence 42
Dearborn 40
Abidjan 39
Nanchang 39
Izmir 37
Redwood City 34
Beijing 32
Hebei 28
Bremen 27
Los Angeles 27
Marseille 27
Boardman 26
Princeton 25
Rome 25
Cambridge 24
Norwalk 22
Detroit 21
Hangzhou 21
Helsinki 21
Hong Kong 21
Kunming 20
Guangzhou 16
Tianjin 16
Augusta 15
Mountain View 15
Shenyang 15
Andover 14
Jinan 14
University Park 14
Jiaxing 12
Brussels 11
Changsha 11
London 11
Seoul 11
Washington 11
Zhengzhou 11
Leawood 10
Chicago 9
Hanoi 9
Redmond 9
Shenzhen 9
Amsterdam 8
Naaldwijk 8
Pune 8
San Diego 8
Taizhou 8
Hefei 7
Kish 7
Milwaukee 7
Old Bridge 7
Shanghai 7
Fremont 6
Kraków 6
Simi Valley 6
Tokyo 6
Toronto 6
Zurich 6
Bologna 5
Changchun 5
Edinburgh 5
Kocaeli 5
Lancaster 5
San Francisco 5
Singapore 5
Bitonto 4
Buenos Aires 4
Central District 4
Florence 4
Madrid 4
Riyadh 4
Tappahannock 4
Turin 4
Valladolid 4
Verona 4
Vigevano 4
Alcamo 3
Bethesda 3
Brno 3
Caorle 3
Dallas 3
Delhi 3
Totale 3.184
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Nome #
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study 305
Sustainable method for Alzheimer's prediction in Mild Cognitive Impairment: EEG connectivity and graph theory combined with ApoE 265
Applicazioni dell'ingegneria genetica in medicina 205
Spinal muscular atrophy 182
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 143
A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease 126
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 119
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results 118
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 116
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism 115
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 114
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 109
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 106
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 100
Biomarkers in rare disorders: the experience with spinal muscular atrophy 96
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 93
A current approach to heart failure in Duchenne muscular dystrophy 92
A history of mental retardation 89
The complex interaction between APOE promoter and AD: an Italian case-control study 89
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 88
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 87
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 87
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 84
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 81
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 81
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 81
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 81
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy 80
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 78
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study 78
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 75
Gene targeting restricted to mouse striated muscle lineage. 74
Solving the puzzle of spinal muscular atrophy: what are the missing pieces? 74
Developmental milestones in type I spinal muscular atrophy 72
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy 66
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 66
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. 65
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 65
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 65
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics 64
Developmental milestones in type I spinal muscular atrophy 64
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 64
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 62
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 62
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 62
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 61
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 59
Recognizable facial features in patients with alternating hemiplegia of childhood. 59
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 58
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 58
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 57
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 55
Longitudinal assessments in discordant twins with SMA 55
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy 55
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 53
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 52
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 52
Refined characterization of the expression and stability of the SMN gene products 51
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 48
Nusinersen in type 0 spinal muscular atrophy: should we treat? 47
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 47
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium 45
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] 44
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 42
Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients 40
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 39
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. 37
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 36
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0 35
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 32
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 29
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 28
An observational study of functional abilities in infants, children, and adults with type 1 SMA 27
An observational study of functional abilities in infants, children, and adults with type 1 SMA 21
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 18
An observational study of functional abilities in infants, children, and adults with type 1 SMA 17
Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. 10
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 9
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. 9
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 7
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 7
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 4
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 2
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study 1
Apoe epsilon2-epsilon4 genotype is a possible risk factor for prymary progressive aphasia 1
Totale 5.895
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Categoria #
all - tutte 21.226
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 21.226
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019164 0 0 0 0 0 0 0 0 0 0 80 84
2019/2020723 154 55 29 44 37 63 71 24 63 34 91 58
2020/2021569 19 52 59 48 65 40 86 11 66 30 84 9
2021/2022677 34 43 15 69 44 20 15 113 40 37 104 143
2022/20231.634 209 236 112 233 144 177 96 145 185 27 56 14
2023/2024719 36 214 58 93 36 114 73 37 13 40 5 0
Totale 5.895