IRIS UniCatt

Tiziano, Francesco Danilo
 Distribuzione geografica
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Continente #
NA - Nord America 3.757
EU - Europa 3.295
AS - Asia 2.933
SA - Sud America 616
AF - Africa 101
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.709
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Nazione #
US - Stati Uniti d'America 3.651
SG - Singapore 1.270
DE - Germania 895
CN - Cina 873
SE - Svezia 636
BR - Brasile 509
IT - Italia 477
UA - Ucraina 236
PL - Polonia 193
FR - Francia 170
GB - Regno Unito 150
IE - Irlanda 147
VN - Vietnam 120
IN - India 119
FI - Finlandia 102
ID - Indonesia 95
TR - Turchia 88
RU - Federazione Russa 78
HK - Hong Kong 76
KR - Corea 67
JP - Giappone 54
CA - Canada 51
NL - Olanda 43
CI - Costa d'Avorio 41
AR - Argentina 39
BD - Bangladesh 31
MX - Messico 28
AT - Austria 25
BE - Belgio 25
ES - Italia 25
IR - Iran 25
ZA - Sudafrica 24
CH - Svizzera 18
CO - Colombia 15
IQ - Iraq 15
PK - Pakistan 15
VE - Venezuela 15
CZ - Repubblica Ceca 13
EC - Ecuador 12
LT - Lituania 12
SA - Arabia Saudita 11
IL - Israele 10
AE - Emirati Arabi Uniti 9
CL - Cile 8
MA - Marocco 8
DZ - Algeria 7
KZ - Kazakistan 7
PA - Panama 7
SK - Slovacchia (Repubblica Slovacca) 7
JO - Giordania 6
KE - Kenya 6
NP - Nepal 6
CR - Costa Rica 5
KG - Kirghizistan 5
MY - Malesia 5
PE - Perù 5
PY - Paraguay 5
UY - Uruguay 5
AL - Albania 4
AU - Australia 4
BG - Bulgaria 4
EG - Egitto 4
RO - Romania 4
TN - Tunisia 4
AZ - Azerbaigian 3
BO - Bolivia 3
BY - Bielorussia 3
DK - Danimarca 3
HN - Honduras 3
NO - Norvegia 3
PT - Portogallo 3
UZ - Uzbekistan 3
AO - Angola 2
BA - Bosnia-Erzegovina 2
CY - Cipro 2
DO - Repubblica Dominicana 2
GE - Georgia 2
GR - Grecia 2
HR - Croazia 2
HU - Ungheria 2
JM - Giamaica 2
LB - Libano 2
LK - Sri Lanka 2
LV - Lettonia 2
MD - Moldavia 2
PS - Palestinian Territory 2
RS - Serbia 2
TW - Taiwan 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AG - Antigua e Barbuda 1
BB - Barbados 1
DM - Dominica 1
EE - Estonia 1
ET - Etiopia 1
GA - Gabon 1
GT - Guatemala 1
IM - Isola di Man 1
KW - Kuwait 1
KY - Cayman, isole 1
LA - Repubblica Popolare Democratica del Laos 1
Totale 10.692
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Città #
Singapore 580
Chandler 566
Ashburn 415
Warsaw 168
Jacksonville 148
Dublin 143
Beijing 133
Hefei 118
Los Angeles 118
San Mateo 109
New York 99
Munich 98
Nanjing 96
Jakarta 88
Wilmington 83
Milan 80
Rome 79
Houston 77
Ann Arbor 74
Woodbridge 68
Fairfield 66
Boston 63
Dallas 63
Hong Kong 62
Seattle 57
Cattolica 53
São Paulo 50
Nürnberg 49
Dearborn 42
Lawrence 42
Seoul 42
Abidjan 40
Izmir 40
Nanchang 40
Moscow 39
Frankfurt am Main 37
Buffalo 36
Kent 36
Ho Chi Minh City 35
Redwood City 35
Hanoi 33
Helsinki 32
Boardman 29
Chicago 29
Bremen 28
Hebei 28
Tokyo 28
Marseille 27
Princeton 26
Nuremberg 25
Cambridge 24
Detroit 24
Hangzhou 23
London 22
Norwalk 22
Guangzhou 21
Orem 21
Santa Clara 21
Kunming 20
Brooklyn 18
Johannesburg 18
Montreal 18
The Dalles 18
Tianjin 18
Augusta 16
Denver 16
Shenyang 16
Toronto 16
Amsterdam 15
Atlanta 15
Brussels 15
Mountain View 15
Stockholm 15
University Park 15
Andover 14
Jinan 14
Changsha 13
Chennai 13
Düsseldorf 13
Jiaxing 13
Phoenix 13
Poplar 12
San Francisco 12
Vienna 12
Washington 12
Zhengzhou 12
Brasília 11
Curitiba 11
Lauterbourg 11
Falkenstein 10
Leawood 10
Milwaukee 10
Pune 10
Shanghai 10
Suwon 10
Turku 10
Zurich 10
Ankara 9
Brno 9
Lappeenranta 9
Totale 5.287
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Nome #
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study 375
Sustainable method for Alzheimer's prediction in Mild Cognitive Impairment: EEG connectivity and graph theory combined with ApoE 356
Spinal muscular atrophy 233
Applicazioni dell'ingegneria genetica in medicina 232
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 196
A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease 171
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 163
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 163
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 162
A current approach to heart failure in Duchenne muscular dystrophy 162
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results 160
Developmental milestones in type I spinal muscular atrophy 159
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism 158
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 151
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 149
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 147
Biomarkers in rare disorders: the experience with spinal muscular atrophy 146
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 141
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 140
The complex interaction between APOE promoter and AD: an Italian case-control study 139
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 138
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 135
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study 134
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 133
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 133
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 133
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 132
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 132
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 131
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 127
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 126
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 125
A history of mental retardation 124
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 124
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 124
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium 121
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 121
Longitudinal assessments in discordant twins with SMA 119
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 119
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 114
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 114
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 113
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 111
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy 111
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 111
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 110
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 110
Nusinersen in type 0 spinal muscular atrophy: should we treat? 110
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 109
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 108
Solving the puzzle of spinal muscular atrophy: what are the missing pieces? 108
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 107
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 106
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 105
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 105
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 103
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 103
Gene targeting restricted to mouse striated muscle lineage. 101
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy 100
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. 99
Developmental milestones in type I spinal muscular atrophy 99
Refined characterization of the expression and stability of the SMN gene products 97
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy 96
Recognizable facial features in patients with alternating hemiplegia of childhood. 93
Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients 93
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 92
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 92
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics 90
Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study 89
Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy 88
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 88
An observational study of functional abilities in infants, children, and adults with type 1 SMA 87
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 82
Structural and functional alterations of neurons derived from sporadic Alzheimer’s disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis 80
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 80
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 76
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] 75
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0 75
An observational study of functional abilities in infants, children, and adults with type 1 SMA 73
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 71
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 70
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study 65
Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. 64
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 64
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 62
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. 59
An observational study of functional abilities in infants, children, and adults with type 1 SMA 58
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. 57
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series 51
Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine 51
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study 49
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands 45
Totale 10.803
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Categoria #
all - tutte 44.556
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 44.556
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021332 0 0 0 0 0 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
2023/2024946 36 218 59 94 36 114 74 37 13 40 98 127
2024/20251.941 56 50 125 71 188 62 61 118 293 182 398 337
2025/20262.654 682 167 289 577 823 116 0 0 0 0 0 0
Totale 10.803