IRIS UniCatt

Tiziano, Francesco Danilo
 Distribuzione geografica
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Continente #
NA - Nord America 4.707
AS - Asia 3.797
EU - Europa 3.575
SA - Sud America 664
AF - Africa 117
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 12.867
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Nazione #
US - Stati Uniti d'America 4.577
SG - Singapore 1.603
CN - Cina 935
DE - Germania 926
SE - Svezia 639
IT - Italia 568
BR - Brasile 538
VN - Vietnam 342
FR - Francia 265
UA - Ucraina 241
PL - Polonia 194
GB - Regno Unito 173
IN - India 149
IE - Irlanda 148
HK - Hong Kong 134
JP - Giappone 118
FI - Finlandia 105
ID - Indonesia 96
TR - Turchia 95
RU - Federazione Russa 80
KR - Corea 67
BD - Bangladesh 65
CA - Canada 64
NL - Olanda 54
AR - Argentina 45
CI - Costa d'Avorio 41
MX - Messico 31
ZA - Sudafrica 28
IR - Iran 27
AT - Austria 26
BE - Belgio 26
ES - Italia 25
IQ - Iraq 25
CH - Svizzera 21
SA - Arabia Saudita 21
PK - Pakistan 20
EC - Ecuador 17
VE - Venezuela 17
CO - Colombia 15
CZ - Repubblica Ceca 14
LT - Lituania 12
MA - Marocco 12
AE - Emirati Arabi Uniti 11
IL - Israele 11
PH - Filippine 10
CL - Cile 9
DZ - Algeria 9
JO - Giordania 9
KE - Kenya 7
KZ - Kazakistan 7
PA - Panama 7
SK - Slovacchia (Repubblica Slovacca) 7
UY - Uruguay 7
CR - Costa Rica 6
JM - Giamaica 6
MY - Malesia 6
NP - Nepal 6
PE - Perù 6
PY - Paraguay 6
UZ - Uzbekistan 6
BG - Bulgaria 5
KG - Kirghizistan 5
PT - Portogallo 5
TN - Tunisia 5
AL - Albania 4
AU - Australia 4
BY - Bielorussia 4
EG - Egitto 4
RO - Romania 4
RS - Serbia 4
AZ - Azerbaigian 3
BO - Bolivia 3
DK - Danimarca 3
ET - Etiopia 3
GR - Grecia 3
HN - Honduras 3
HR - Croazia 3
LB - Libano 3
NO - Norvegia 3
TW - Taiwan 3
AO - Angola 2
BA - Bosnia-Erzegovina 2
CY - Cipro 2
DO - Repubblica Dominicana 2
GE - Georgia 2
GT - Guatemala 2
HU - Ungheria 2
KY - Cayman, isole 2
LK - Sri Lanka 2
LV - Lettonia 2
MD - Moldavia 2
OM - Oman 2
PS - Palestinian Territory 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AG - Antigua e Barbuda 1
BB - Barbados 1
BH - Bahrain 1
Totale 12.845
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Città #
Singapore 893
Chandler 566
Ashburn 510
San Jose 399
Warsaw 169
Jacksonville 148
Dublin 144
Beijing 140
Los Angeles 136
Hefei 118
New York 114
Hong Kong 112
San Mateo 109
Rome 104
Hanoi 101
Ho Chi Minh City 98
Munich 98
Nanjing 96
Tokyo 92
Lauterbourg 90
Milan 90
Jakarta 88
Wilmington 83
Houston 80
Ann Arbor 74
Dallas 71
Woodbridge 68
Fairfield 66
Boston 65
Frankfurt am Main 60
Seattle 57
São Paulo 56
Cattolica 53
Boardman 49
Nürnberg 49
The Dalles 44
Dearborn 42
Lawrence 42
Santa Clara 42
Seoul 42
Abidjan 40
Izmir 40
Nanchang 40
Buffalo 39
Moscow 39
Kent 36
Helsinki 35
Redwood City 35
Chicago 34
Orem 29
Bremen 28
Hebei 28
London 28
Marseille 28
Nuremberg 27
Guangzhou 26
Princeton 26
Atlanta 25
Cambridge 24
Da Nang 24
Detroit 24
Hangzhou 24
Amsterdam 23
Council Bluffs 23
Chennai 22
Norwalk 22
Brooklyn 21
Johannesburg 21
Kunming 20
Montreal 20
Toronto 20
Tianjin 19
Tukwila 19
Paris 18
Stockholm 18
Denver 17
Augusta 16
Brussels 16
Phoenix 16
Shenyang 16
Mountain View 15
University Park 15
Andover 14
Jinan 14
Poplar 14
Shanghai 14
Changsha 13
Düsseldorf 13
Jiaxing 13
Baghdad 12
Curitiba 12
Manchester 12
San Francisco 12
Vienna 12
Washington 12
Zhengzhou 12
Brasília 11
Pune 11
Zurich 11
Falkenstein 10
Totale 6.736
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Nome #
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study 405
Sustainable method for Alzheimer's prediction in Mild Cognitive Impairment: EEG connectivity and graph theory combined with ApoE 394
Applicazioni dell'ingegneria genetica in medicina 254
Spinal muscular atrophy 248
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 221
A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease 198
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 191
Developmental milestones in type I spinal muscular atrophy 189
A current approach to heart failure in Duchenne muscular dystrophy 183
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 181
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 179
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 178
Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results 176
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism 171
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 170
The complex interaction between APOE promoter and AD: an Italian case-control study 166
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 166
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 165
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 164
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 164
Biomarkers in rare disorders: the experience with spinal muscular atrophy 163
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 162
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 161
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 160
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study 159
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 158
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 156
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 155
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 154
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 153
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 152
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium 151
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 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 150
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 148
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 147
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 146
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 146
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 144
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 143
A history of mental retardation 142
Longitudinal assessments in discordant twins with SMA 141
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 140
Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study 137
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 136
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 135
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 134
Refined characterization of the expression and stability of the SMN gene products 134
Solving the puzzle of spinal muscular atrophy: what are the missing pieces? 134
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 131
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 130
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 130
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 129
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 128
Structural and functional alterations of neurons derived from sporadic Alzheimer’s disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis 127
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 126
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 125
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy 125
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy 125
Nusinersen in type 0 spinal muscular atrophy: should we treat? 124
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 123
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 123
Gene targeting restricted to mouse striated muscle lineage. 118
Developmental milestones in type I spinal muscular atrophy 117
An observational study of functional abilities in infants, children, and adults with type 1 SMA 112
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy 112
Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients 112
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics 111
Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy 110
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. 110
Recognizable facial features in patients with alternating hemiplegia of childhood. 110
Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine 108
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism 106
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 99
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 99
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease 97
An observational study of functional abilities in infants, children, and adults with type 1 SMA 97
Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0 97
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. 95
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 92
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 92
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study 90
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] 89
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series 84
Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. 83
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 79
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. 79
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. 75
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor 75
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study 73
An observational study of functional abilities in infants, children, and adults with type 1 SMA 73
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands 59
Ataxia-Telangiectasia Presenting as Tremor-Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias 32
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study 4
The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health 4
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy 3
Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis 2
Totale 12.999
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Categoria #
all - tutte 51.116
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 51.116
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20219 0 0 0 0 0 0 0 0 0 0 0 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
2025/20264.850 682 167 289 577 823 371 823 238 299 293 176 112
Totale 12.999