IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

TONDUTI, DAVIDE
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 5.686
EU - Europa 3.461
NA - Nord America 3.178
SA - Sud America 554
AF - Africa 103
OC - Oceania 29
Continente sconosciuto - Info sul continente non disponibili 5
Totale 13.016
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.005
SG - Singapore 1.768
CN - Cina 1.578
IT - Italia 1.477
HK - Hong Kong 631
VN - Vietnam 573
RU - Federazione Russa 433
BR - Brasile 431
GB - Regno Unito 289
IN - India 281
BD - Bangladesh 272
DE - Germania 259
FR - Francia 236
NL - Olanda 219
FI - Finlandia 173
KR - Corea 115
CA - Canada 109
ID - Indonesia 92
IL - Israele 87
SE - Svezia 82
JP - Giappone 75
IE - Irlanda 58
ES - Italia 49
TR - Turchia 45
AR - Argentina 44
AT - Austria 38
IQ - Iraq 35
ZA - Sudafrica 33
MX - Messico 31
AU - Australia 29
PL - Polonia 26
CH - Svizzera 23
CI - Costa d'Avorio 23
IR - Iran 19
EC - Ecuador 17
SA - Arabia Saudita 17
VE - Venezuela 17
CO - Colombia 14
CL - Cile 12
UA - Ucraina 12
PK - Pakistan 11
TW - Taiwan 11
MY - Malesia 10
CZ - Repubblica Ceca 9
DZ - Algeria 9
PH - Filippine 9
PT - Portogallo 9
UZ - Uzbekistan 9
RO - Romania 8
TN - Tunisia 8
BE - Belgio 7
KE - Kenya 7
MA - Marocco 7
AE - Emirati Arabi Uniti 6
BO - Bolivia 6
GR - Grecia 6
HU - Ungheria 5
JM - Giamaica 5
KG - Kirghizistan 5
LT - Lituania 5
MD - Moldavia 5
PY - Paraguay 5
TT - Trinidad e Tobago 5
BA - Bosnia-Erzegovina 4
DO - Repubblica Dominicana 4
EG - Egitto 4
LB - Libano 4
LV - Lettonia 4
SI - Slovenia 4
TH - Thailandia 4
UY - Uruguay 4
AL - Albania 3
CR - Costa Rica 3
DK - Danimarca 3
EE - Estonia 3
EU - Europa 3
GT - Guatemala 3
JO - Giordania 3
NP - Nepal 3
OM - Oman 3
PA - Panama 3
PE - Perù 3
PS - Palestinian Territory 3
QA - Qatar 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AM - Armenia 2
AZ - Azerbaigian 2
BB - Barbados 2
ET - Etiopia 2
GE - Georgia 2
HN - Honduras 2
HR - Croazia 2
LU - Lussemburgo 2
MT - Malta 2
NG - Nigeria 2
NI - Nicaragua 2
NO - Norvegia 2
SC - Seychelles 2
AW - Aruba 1
BF - Burkina Faso 1
Totale 12.995
Salva come PNG Salva come JPEG
Città #
Singapore 883
Hong Kong 562
Hefei 516
Ashburn 463
San Jose 377
Milan 318
Council Bluffs 238
Bengaluru 182
Dallas 177
Ho Chi Minh City 169
Beijing 163
Los Angeles 163
Hanoi 148
Helsinki 139
Southend 131
Lauterbourg 115
Rome 113
Santa Clara 105
New York 104
Boardman 97
Frankfurt am Main 97
Seoul 95
Moscow 92
Chandler 80
Guangzhou 69
Buffalo 68
Shanghai 63
Jakarta 62
Dublin 56
Nuremberg 51
Seattle 51
Tokyo 46
Da Nang 41
Rishon LeTsiyyon 41
Munich 40
Naples 40
Montreal 38
Princeton 33
São Paulo 33
Edinburgh 31
Shenzhen 30
Cangzhou 29
Turin 29
Bari 26
London 26
Florence 24
Herzliya 24
Abidjan 23
Vienna 23
Fairfield 22
Nanjing 22
Madrid 21
The Dalles 21
Toronto 21
Verona 21
Chicago 20
Padova 20
Tianjin 20
Wilmington 20
Orem 19
Atlanta 18
Johannesburg 18
Melbourne 18
Warsaw 18
Ann Arbor 17
Des Moines 17
Haiphong 16
Phoenix 16
Catania 15
Hải Dương 15
Istanbul 15
Padua 15
Palermo 15
Turku 15
Woodbridge 15
Athens 14
Berlin 14
Bologna 14
Genoa 14
Pescara 13
Rho 13
San Diego 13
Baghdad 12
Biên Hòa 12
Chennai 12
Düsseldorf 12
Lappeenranta 12
Porto Alegre 12
Washington 12
Amsterdam 11
Houston 11
Mumbai 11
Philadelphia 11
Dearborn 10
Manchester 10
Belo Horizonte 9
Bodio Lomnago 9
Boston 9
Brooklyn 9
Denver 9
Totale 7.282
Salva come PNG Salva come JPEG
Nome #
Deficit neonatale di vitamina b12 secondario a carenza materna: focus su pattern alimentari e intake nutrizionali in gravidanza 498
Deficit neonatale e materno di vitamina B12: pattern alimentari e intake nutrizionali durante la gravidanza 273
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring 267
Novel frontiers in aicardi-goutières syndrome: association between a rnu7-1 variant and histone dysfunctions 226
Relazione tra deficit di vitamina B12 evidenziato allo screening neonatale e valori di creatina nella diade -mamma bambino nelle prime epoche di vita 219
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 216
Cobalamin deficiency in the maternal-newborn dyad identified by neonatal screening: preliminary data from an observational study 211
Role of epigenetics and alterations in RNA metabolism in leukodystrophies 202
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 189
I deficit di vitamina B12 di origine materna nel neonato: sfide attuali e future = Neonatal cobalamin deficiency secondary to maternal causes: today and future challenges 188
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 187
Transcriptional profiling and functional characterization of three genetic variants in SLC16A2 gene 182
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 181
Redox Imbalance in Neurological Disorders in Adults and Children 177
New-born screening and vitamin B12 deficiency: model of management and description of a case history 176
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 174
Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives 165
Disturbi della sintesi della Prolina: caratterizzazione clinica e strumentale della Leucoencefalopatia correlata a PYCR2 159
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management 153
Impact of COVID-19 lockdown in children with neurological disorders in Italy 153
Expanding the Spectrum of NUBPL-Related Leukodystrophy 153
Microbiota gut-brain axis : implications for pediatric-onset leukodystrophies 150
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy 148
ELOVL1 nella biosintesi degli acidi grassi: studio di un paziente con una mutazione de novo 146
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 143
The expanding knowledge of epilepsy in leukodystrophies 141
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease 138
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 135
Functional characterization and transcriptional profiling of fibroblasts from patients with mutations in SLC16A2 gene 134
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant 133
Transcriptional profiling and functional characterization of 3 patient-derived skin fibroblasts affected by Allan-Herndon-Dudley syndrome 133
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial 132
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al 132
Use of ketogenic diet in patients with SCN8A-related epilepsy: report in two clinical cases 131
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features 131
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803 126
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 126
Ruxolitinib in Aicardi-Goutières syndrome 126
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 126
Type I Alexander disease: Update and validation of the clinical evolution-based classification 123
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 121
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation 117
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 117
RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum 116
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 116
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots 115
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations 111
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy 110
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome 109
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency 109
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome : diagnostic and disease-monitoring implications 108
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 107
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation 107
Further insights into Allan-Herndon-Dudley syndrome: characterization of two genetic variants in SLC16A2 gene 105
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease 103
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum 102
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child 101
Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders 101
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS 100
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity 95
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients 94
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 93
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study 91
Spinal cord calcification in an early-onset progressive leukoencephalopathy 91
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS 91
Endocrine and growth abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 89
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 87
Altered PLP1 splicing causes hypomyelination of early myelinating structures 87
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 86
More Than Hypomyelination in Pol-III Disorder 84
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 84
Neurotransmitter abnormalities and response to supplementation in SPG11 82
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 82
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A 81
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 79
Nucleotide Excision Repair (NER) Disorders as differential diagnosis in isolated hypomyelination 78
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach 76
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 74
Novel and emerging treatments for Aicardi-Goutières syndrome 74
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 74
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 72
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy 72
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings 71
Mexiletina come target therapy nelle encefalopatie epilettiche e di sviluppo SCN2A-relate 70
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 69
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum 68
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 67
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 67
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease 67
Dysregulation of the immune system in Aicardi-Goutieres syndrome: another example in a TREX1-mutated patient 66
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder 66
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders 66
First-tier versus last-tier trio whole-genome sequencing for the diagnosis of pediatric-onset rare diseases 63
Cortical malformations and COL4A1 mutation: Three new cases 63
Comprehensive genotype-phenotype analysis in POLR3-related disorders 62
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation 62
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 61
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 61
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers 60
The epileptology of Aicardi-Goutières syndrome : electro-clinical-radiological findings 60
Totale 12.063
Salva come PNG Salva come JPEG
Categoria #
all - tutte 45.303
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 45.303
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202132 0 0 0 0 0 0 0 0 0 0 15 17
2021/2022216 5 18 11 15 18 21 13 11 23 11 18 52
2022/2023454 31 14 22 37 42 86 5 42 37 37 78 23
2023/20241.143 35 107 93 61 181 119 68 88 42 78 114 157
2024/20253.210 95 266 96 229 237 251 215 294 203 365 340 619
2025/20268.078 839 800 838 687 608 414 1.100 472 851 596 873 0
Totale 13.533