IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

TONDUTI, DAVIDE
 Distribuzione geografica
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Continente #
AS - Asia 6.221
NA - Nord America 4.511
EU - Europa 3.978
SA - Sud America 562
Continente sconosciuto - Info sul continente non disponibili 537
AF - Africa 107
OC - Oceania 30
Totale 15.946
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Nazione #
US - Stati Uniti d'America 4.231
IT - Italia 1.952
SG - Singapore 1.798
CN - Cina 1.590
BD - Bangladesh 718
HK - Hong Kong 635
VN - Vietnam 592
BR - Brasile 434
RU - Federazione Russa 433
GB - Regno Unito 293
IN - India 285
DE - Germania 263
FR - Francia 237
NL - Olanda 228
CA - Canada 175
FI - Finlandia 173
KR - Corea 115
ID - Indonesia 95
IL - Israele 92
SE - Svezia 85
JP - Giappone 80
IE - Irlanda 61
ES - Italia 54
TR - Turchia 48
AR - Argentina 44
AT - Austria 39
IQ - Iraq 36
MX - Messico 34
ZA - Sudafrica 33
AU - Australia 30
PL - Polonia 29
CH - Svizzera 25
CI - Costa d'Avorio 23
IR - Iran 20
CO - Colombia 18
EC - Ecuador 17
SA - Arabia Saudita 17
VE - Venezuela 17
JM - Giamaica 14
UA - Ucraina 13
CL - Cile 12
PK - Pakistan 12
TW - Taiwan 11
BE - Belgio 10
DZ - Algeria 10
MY - Malesia 10
PH - Filippine 10
TT - Trinidad e Tobago 10
CZ - Repubblica Ceca 9
PT - Portogallo 9
UZ - Uzbekistan 9
CR - Costa Rica 8
RO - Romania 8
TN - Tunisia 8
HN - Honduras 7
KE - Kenya 7
MA - Marocco 7
AE - Emirati Arabi Uniti 6
BO - Bolivia 6
GR - Grecia 6
BA - Bosnia-Erzegovina 5
GT - Guatemala 5
HU - Ungheria 5
KG - Kirghizistan 5
LT - Lituania 5
MD - Moldavia 5
PY - Paraguay 5
SC - Seychelles 5
DO - Repubblica Dominicana 4
EG - Egitto 4
LB - Libano 4
LV - Lettonia 4
PA - Panama 4
PE - Perù 4
PR - Porto Rico 4
SI - Slovenia 4
TH - Thailandia 4
UY - Uruguay 4
AL - Albania 3
BB - Barbados 3
DK - Danimarca 3
EE - Estonia 3
EU - Europa 3
JO - Giordania 3
NI - Nicaragua 3
NO - Norvegia 3
NP - Nepal 3
OM - Oman 3
PS - Palestinian Territory 3
QA - Qatar 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AG - Antigua e Barbuda 2
AM - Armenia 2
AZ - Azerbaigian 2
ET - Etiopia 2
GE - Georgia 2
HR - Croazia 2
IS - Islanda 2
LU - Lussemburgo 2
MQ - Martinica 2
Totale 15.387
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Città #
Singapore 892
Ashburn 621
Hong Kong 566
Hefei 516
San Jose 446
Council Bluffs 380
Milan 379
Santa Clara 354
Dallas 199
Los Angeles 199
Bengaluru 182
Ho Chi Minh City 178
Beijing 167
Hanoi 150
Rome 148
Helsinki 139
New York 135
Southend 131
Boardman 121
Lauterbourg 115
Frankfurt am Main 97
Buffalo 95
Seoul 95
Moscow 92
Chandler 83
Naples 79
Guangzhou 69
Shanghai 64
Jakarta 62
Dublin 59
Seattle 57
Nuremberg 51
Montreal 48
Tokyo 46
Da Nang 43
Turin 42
Rishon LeTsiyyon 41
Munich 40
Florence 34
Bari 33
Bologna 33
Princeton 33
São Paulo 33
Chicago 32
Toronto 32
Edinburgh 31
Shenzhen 31
Cangzhou 29
Phoenix 28
London 26
Verona 26
Atlanta 24
Herzliya 24
Madrid 24
Abidjan 23
Palermo 23
Vienna 23
Fairfield 22
Nanjing 22
Wilmington 22
The Dalles 21
Orem 20
Padova 20
Tianjin 20
Catania 19
Padua 19
Genoa 18
Houston 18
Istanbul 18
Johannesburg 18
Melbourne 18
Warsaw 18
Ann Arbor 17
Des Moines 17
Philadelphia 17
Washington 17
Haiphong 16
San Diego 16
Woodbridge 16
Berlin 15
Hải Dương 15
Pescara 15
San Francisco 15
Turku 15
Athens 14
Brooklyn 14
Denver 14
Rho 13
Baghdad 12
Biên Hòa 12
Charlotte 12
Chennai 12
Düsseldorf 12
Lappeenranta 12
Las Vegas 12
Mumbai 12
Porto Alegre 12
Venice 12
Amsterdam 11
Columbus 11
Totale 8.404
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Nome #
Deficit neonatale di vitamina b12 secondario a carenza materna: focus su pattern alimentari e intake nutrizionali in gravidanza 542
Deficit neonatale e materno di vitamina B12: pattern alimentari e intake nutrizionali durante la gravidanza 337
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring 298
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 263
Novel frontiers in aicardi-goutières syndrome: association between a rnu7-1 variant and histone dysfunctions 253
Relazione tra deficit di vitamina B12 evidenziato allo screening neonatale e valori di creatina nella diade -mamma bambino nelle prime epoche di vita 239
Cobalamin deficiency in the maternal-newborn dyad identified by neonatal screening: preliminary data from an observational study 225
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 220
Transcriptional profiling and functional characterization of three genetic variants in SLC16A2 gene 217
Role of epigenetics and alterations in RNA metabolism in leukodystrophies 213
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 209
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 205
Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives 198
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 196
Redox Imbalance in Neurological Disorders in Adults and Children 193
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management 190
New-born screening and vitamin B12 deficiency: model of management and description of a case history 186
Disturbi della sintesi della Prolina: caratterizzazione clinica e strumentale della Leucoencefalopatia correlata a PYCR2 184
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 178
ELOVL1 nella biosintesi degli acidi grassi: studio di un paziente con una mutazione de novo 175
The expanding knowledge of epilepsy in leukodystrophies 169
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy 169
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 169
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 168
Expanding the Spectrum of NUBPL-Related Leukodystrophy 168
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant 165
Impact of COVID-19 lockdown in children with neurological disorders in Italy 165
Further insights into Allan-Herndon-Dudley syndrome: characterization of two genetic variants in SLC16A2 gene 162
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803 160
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease 158
Microbiota gut-brain axis : implications for pediatric-onset leukodystrophies 157
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 156
Use of ketogenic diet in patients with SCN8A-related epilepsy: report in two clinical cases 154
Transcriptional profiling and functional characterization of 3 patient-derived skin fibroblasts affected by Allan-Herndon-Dudley syndrome 146
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 146
Functional characterization and transcriptional profiling of fibroblasts from patients with mutations in SLC16A2 gene 146
Ruxolitinib in Aicardi-Goutières syndrome 145
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation 144
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features 144
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 144
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots 140
RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum 139
Type I Alexander disease: Update and validation of the clinical evolution-based classification 138
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 138
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 136
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al 135
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 131
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 128
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency 126
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy 125
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome 123
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome : diagnostic and disease-monitoring implications 122
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations 121
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation 119
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients 115
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 114
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study 113
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease 113
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 113
Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders 110
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 109
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 108
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child 108
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 106
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 104
Endocrine and growth abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 103
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum 103
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 101
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 101
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 100
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder 96
Endocrine system disturbances in children with inherited metabolic diseases: a narrative review 96
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach 95
More Than Hypomyelination in Pol-III Disorder 95
Exploring emerging JAK inhibitors in the treatment of Aicardi–Goutières syndrome 95
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 95
Nucleotide Excision Repair (NER) Disorders as differential diagnosis in isolated hypomyelination 94
Spinal cord calcification in an early-onset progressive leukoencephalopathy 94
Altered PLP1 splicing causes hypomyelination of early myelinating structures 92
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A 91
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 91
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy 91
Neurotransmitter abnormalities and response to supplementation in SPG11 89
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 88
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 86
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 86
Mexiletina come target therapy nelle encefalopatie epilettiche e di sviluppo SCN2A-relate 85
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 84
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches 84
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease 83
Novel and emerging treatments for Aicardi-Goutières syndrome 82
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum 82
First-tier versus last-tier trio whole-genome sequencing for the diagnosis of pediatric-onset rare diseases 81
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology 80
Comprehensive genotype-phenotype analysis in POLR3-related disorders 78
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 78
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome 78
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings 75
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A) 75
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders 75
Totale 13.992
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Categoria #
all - tutte 51.755
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 51.755
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022211 0 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
2025/20269.299 839 800 838 687 608 414 1.100 472 851 596 1.049 1.045
2026/20271.192 583 609 0 0 0 0 0 0 0 0 0 0
Totale 15.946