IRIS PubliCatt

Tiziano, Francesco Danilo
 Distribuzione geografica
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Continente #
NA - Nord America 2.683
EU - Europa 2.629
AS - Asia 816
AF - Africa 42
SA - Sud America 18
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.191
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Nazione #
US - Stati Uniti d'America 2.664
DE - Germania 766
SE - Svezia 547
CN - Cina 436
IT - Italia 354
UA - Ucraina 226
PL - Polonia 159
IE - Irlanda 139
SG - Singapore 100
FR - Francia 96
GB - Regno Unito 83
FI - Finlandia 74
TR - Turchia 70
RU - Federazione Russa 66
IN - India 62
CI - Costa d'Avorio 39
HK - Hong Kong 35
JP - Giappone 32
NL - Olanda 32
KR - Corea 26
IR - Iran 22
BE - Belgio 17
CH - Svizzera 14
ES - Italia 13
CA - Canada 12
VN - Vietnam 10
CZ - Repubblica Ceca 9
BR - Brasile 7
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
NO - Norvegia 3
PA - Panama 3
PK - Pakistan 3
AU - Australia 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
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
EC - Ecuador 1
EE - Estonia 1
ID - Indonesia 1
KW - Kuwait 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LV - Lettonia 1
MA - Marocco 1
ME - Montenegro 1
RS - Serbia 1
TH - Thailandia 1
TW - Taiwan 1
Totale 6.191
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Città #
Chandler 566
Ashburn 258
Jacksonville 148
Warsaw 143
Dublin 136
San Mateo 109
Nanjing 96
Wilmington 81
Ann Arbor 74
Houston 69
Woodbridge 68
Fairfield 66
Singapore 61
New York 60
Boston 56
Milan 55
Munich 55
Cattolica 51
Seattle 50
Nürnberg 49
Dearborn 42
Lawrence 42
Nanchang 40
Abidjan 39
Moscow 39
Rome 39
Izmir 38
Redwood City 35
Los Angeles 33
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 16
Shenyang 16
Tianjin 16
Augusta 15
Mountain View 15
University Park 15
Andover 14
Jinan 14
Jiaxing 13
Seoul 12
Zhengzhou 12
Brussels 11
Changsha 11
London 11
Washington 11
Leawood 10
Brno 9
Chicago 9
Hanoi 9
Redmond 9
Shenzhen 9
Zurich 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
Bologna 5
Changchun 5
Edinburgh 5
Kocaeli 5
Lancaster 5
Namdong-gu 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
Bethesda 3
Caorle 3
Totale 3.382
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Nome #
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study 307
Sustainable method for Alzheimer's prediction in Mild Cognitive Impairment: EEG connectivity and graph theory combined with ApoE 282
Applicazioni dell'ingegneria genetica in medicina 206
Spinal muscular atrophy 184
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 148
A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease 131
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 121
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results 121
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 121
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism 117
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 115
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 110
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 108
Biomarkers in rare disorders: the experience with spinal muscular atrophy 102
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 102
A current approach to heart failure in Duchenne muscular dystrophy 99
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 97
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 95
The complex interaction between APOE promoter and AD: an Italian case-control study 91
A history of mental retardation 89
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 89
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 89
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 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 86
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 85
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 85
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 84
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 83
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 83
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study 83
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy 80
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 77
Developmental milestones in type I spinal muscular atrophy 77
Solving the puzzle of spinal muscular atrophy: what are the missing pieces? 76
Gene targeting restricted to mouse striated muscle lineage. 75
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 73
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 69
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 67
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy 66
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. 66
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 66
Developmental milestones in type I spinal muscular atrophy 66
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 65
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics 64
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 64
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 63
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
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 62
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 61
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 60
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 60
Recognizable facial features in patients with alternating hemiplegia of childhood. 60
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 60
Longitudinal assessments in discordant twins with SMA 60
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy 60
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 58
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 57
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 55
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 54
Refined characterization of the expression and stability of the SMN gene products 53
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 52
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 51
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium 48
Nusinersen in type 0 spinal muscular atrophy: should we treat? 48
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] 46
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 43
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 41
Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients 41
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0 39
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. 38
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 38
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 32
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 29
An observational study of functional abilities in infants, children, and adults with type 1 SMA 29
An observational study of functional abilities in infants, children, and adults with type 1 SMA 25
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 23
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 21
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 18
An observational study of functional abilities in infants, children, and adults with type 1 SMA 17
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 13
Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. 13
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. 12
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 8
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study 6
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 6
Apoe epsilon2-epsilon4 genotype is a possible risk factor for prymary progressive aphasia 2
Totale 6.277
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Categoria #
all - tutte 24.949
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 24.949
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020578 0 55 29 44 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
2024/202567 56 11 0 0 0 0 0 0 0 0 0 0
Totale 6.277