IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

TONDUTI, DAVIDE
 Distribuzione geografica
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Continente #
EU - Europa 1.548
AS - Asia 1.093
NA - Nord America 995
SA - Sud America 100
AF - Africa 8
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 3
Totale 3.755
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Nazione #
US - Stati Uniti d'America 957
IT - Italia 710
SG - Singapore 416
CN - Cina 377
RU - Federazione Russa 191
GB - Regno Unito 188
DE - Germania 131
IN - India 81
BR - Brasile 72
SE - Svezia 71
ID - Indonesia 56
IE - Irlanda 51
NL - Olanda 48
HK - Hong Kong 42
CA - Canada 38
FI - Finlandia 32
FR - Francia 32
JP - Giappone 25
AT - Austria 23
KR - Corea 23
IL - Israele 14
ES - Italia 13
IR - Iran 12
TR - Turchia 12
VN - Vietnam 11
AU - Australia 8
AR - Argentina 7
CL - Cile 7
PL - Polonia 7
GR - Grecia 6
BE - Belgio 5
CH - Svizzera 5
BD - Bangladesh 4
CO - Colombia 4
CZ - Repubblica Ceca 4
RO - Romania 4
BO - Bolivia 3
EE - Estonia 3
EU - Europa 3
HU - Ungheria 3
LB - Libano 3
PT - Portogallo 3
SI - Slovenia 3
UA - Ucraina 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AE - Emirati Arabi Uniti 2
BA - Bosnia-Erzegovina 2
EC - Ecuador 2
IQ - Iraq 2
KE - Kenya 2
KG - Kirghizistan 2
PE - Perù 2
PH - Filippine 2
SC - Seychelles 2
TW - Taiwan 2
UZ - Uzbekistan 2
ZA - Sudafrica 2
AL - Albania 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
DK - Danimarca 1
DZ - Algeria 1
GE - Georgia 1
HR - Croazia 1
IM - Isola di Man 1
IS - Islanda 1
LT - Lituania 1
LU - Lussemburgo 1
LV - Lettonia 1
MD - Moldavia 1
PY - Paraguay 1
SA - Arabia Saudita 1
TH - Thailandia 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 3.757
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Città #
Singapore 286
Milan 182
Southend 131
Council Bluffs 117
Boardman 81
Chandler 80
Santa Clara 65
Rome 54
Jakarta 51
Dublin 50
Frankfurt am Main 47
Bengaluru 46
Shanghai 44
Seattle 43
Ashburn 38
Nuremberg 38
Beijing 37
Princeton 33
Helsinki 25
New York 25
Guangzhou 24
Fairfield 22
Nanjing 21
Hong Kong 20
Wilmington 19
Montreal 18
Padova 18
Ann Arbor 17
Woodbridge 15
Athens 14
Des Moines 14
Vienna 14
Bari 12
Los Angeles 12
Naples 12
Edinburgh 11
Florence 11
Dearborn 10
Houston 10
Pescara 10
Turin 10
Berlin 9
Bodio Lomnago 9
Eygelshoven 9
London 9
Toronto 9
Catania 8
Fuzhou 8
Nazerat 'Illit 8
Verona 8
Cambridge 7
Concepción 7
Phoenix 7
Piacenza 7
Quanzhou 7
Seoul 7
São Paulo 7
Tokyo 7
Bursa 6
Melbourne 6
Palermo 6
Redwood City 6
Venice 6
Asheville 5
Birmingham 5
Las Vegas 5
Macerata 5
Madrid 5
Monza 5
Nanchang 5
Pisa 5
Porto Alegre 5
Pune 5
San Francisco 5
Tehran 5
Viagrande 5
Washington 5
Atrani 4
Brescia 4
Dortmund 4
Genoa 4
Grafing 4
Jinan 4
Marseille 4
Nishikanda 4
Osaka 4
Osnabrück 4
Piscataway 4
Silver Spring 4
St Louis 4
Yongin-si 4
Ahmedabad 3
Angers 3
Barcelona 3
Biella 3
Bitonto 3
Brussels 3
Campinas 3
Capaccio 3
Central 3
Totale 2.103
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Nome #
Deficit neonatale di vitamina b12 secondario a carenza materna: focus su pattern alimentari e intake nutrizionali in gravidanza 299
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 124
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring 123
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 120
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 116
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 113
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 113
Deficit neonatale e materno di vitamina B12: pattern alimentari e intake nutrizionali durante la gravidanza 86
Impact of COVID-19 lockdown in children with neurological disorders in Italy 83
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 72
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum 72
New-born screening and vitamin B12 deficiency: model of management and description of a case history 67
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome : diagnostic and disease-monitoring implications 66
Spinal cord calcification in an early-onset progressive leukoencephalopathy 63
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 61
Relazione tra deficit di vitamina B12 evidenziato allo screening neonatale e valori di creatina nella diade -mamma bambino nelle prime epoche di vita 61
Ruxolitinib in Aicardi-Goutières syndrome 60
Novel frontiers in aicardi-goutières syndrome: association between a rnu7-1 variant and histone dysfunctions 60
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency 59
Redox Imbalance in Neurological Disorders in Adults and Children 58
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 58
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 56
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy 55
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features 52
Expanding the Spectrum of NUBPL-Related Leukodystrophy 52
Role of epigenetics and alterations in RNA metabolism in leukodystrophies 51
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al 51
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation 51
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 50
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy 44
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child 43
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 41
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 41
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 40
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 38
Cobalamin deficiency in the maternal-newborn dyad identified by neonatal screening: preliminary data from an observational study 38
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 36
The epileptology of Aicardi-Goutières syndrome : electro-clinical-radiological findings 36
Type I Alexander disease: Update and validation of the clinical evolution-based classification 34
Microbiota gut-brain axis : implications for pediatric-onset leukodystrophies 33
Altered PLP1 splicing causes hypomyelination of early myelinating structures 32
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 32
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations 32
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation 31
RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum 30
Transcriptional profiling and functional characterization of three genetic variants in SLC16A2 gene 29
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome 29
Cortical malformations and COL4A1 mutation: Three new cases 28
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 27
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease 26
Functional characterization and transcriptional profiling of fibroblasts from patients with mutations in SLC16A2 gene 26
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients 25
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots 24
Neurotransmitter abnormalities and response to supplementation in SPG11 24
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 24
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation 24
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 24
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 24
Transcriptional profiling and functional characterization of 3 patient-derived skin fibroblasts affected by Allan-Herndon-Dudley syndrome 23
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings 23
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers 23
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 23
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 23
The expanding knowledge of epilepsy in leukodystrophies 22
Novel and emerging treatments for Aicardi-Goutières syndrome 22
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A 20
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 20
ELOVL1 nella biosintesi degli acidi grassi: studio di un paziente con una mutazione de novo 20
More Than Hypomyelination in Pol-III Disorder 19
New spastic paraplegia phenotype associated to mutation of NFU1 19
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 18
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 18
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders 18
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 18
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 17
New Case of 4H Syndrome and a Review of the Literature 17
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach 16
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant 16
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 16
Dysregulation of the immune system in Aicardi-Goutieres syndrome: another example in a TREX1-mutated patient 16
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers 16
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies 16
Endocrine and growth abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 16
Further insights into Allan-Herndon-Dudley syndrome: characterization of two genetic variants in SLC16A2 gene 16
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 15
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum 15
Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6) 15
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 14
Case definition and classification of leukodystrophies and leukoencephalopathies 14
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease 14
Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives 14
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy 14
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations 13
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder 13
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 13
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 12
Disturbi della sintesi della Prolina: caratterizzazione clinica e strumentale della Leucoencefalopatia correlata a PYCR2 12
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration 11
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 11
Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis 11
Totale 3.969
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Categoria #
all - tutte 25.662
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 25.662
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202030 0 0 0 0 0 0 0 0 10 17 1 2
2020/2021127 1 4 7 3 8 14 9 15 17 17 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
2023/20241.145 35 107 93 61 181 119 68 88 42 80 114 157
2024/20251.799 95 266 96 229 237 251 215 294 116 0 0 0
Totale 4.046