IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

TONDUTI, DAVIDE
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 837
NA - Nord America 603
AS - Asia 583
SA - Sud America 20
AF - Africa 4
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 1
Totale 2.051
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 574
IT - Italia 343
CN - Cina 253
GB - Regno Unito 158
SG - Singapore 150
DE - Germania 100
IN - India 73
SE - Svezia 65
IE - Irlanda 50
CA - Canada 29
ID - Indonesia 28
FI - Finlandia 26
HK - Hong Kong 25
KR - Corea 20
FR - Francia 18
NL - Olanda 18
RU - Federazione Russa 18
JP - Giappone 13
VN - Vietnam 10
CL - Cile 7
ES - Italia 7
BR - Brasile 6
BE - Belgio 5
TR - Turchia 5
CZ - Repubblica Ceca 3
EU - Europa 3
PL - Polonia 3
RO - Romania 3
SI - Slovenia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AT - Austria 2
BO - Bolivia 2
CH - Svizzera 2
GR - Grecia 2
HU - Ungheria 2
LB - Libano 2
SC - Seychelles 2
UA - Ucraina 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
CO - Colombia 1
EC - Ecuador 1
EE - Estonia 1
IM - Isola di Man 1
IR - Iran 1
KE - Kenya 1
MD - Moldavia 1
PT - Portogallo 1
PY - Paraguay 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 2.053
Salva come PNG Salva come JPEG
Città #
Southend 131
Milan 94
Singapore 91
Chandler 80
Boardman 77
Dublin 49
Bengaluru 46
Frankfurt am Main 43
Seattle 40
Princeton 33
Shanghai 33
Beijing 32
Ashburn 27
Nuremberg 27
Jakarta 24
New York 23
Fairfield 22
Helsinki 21
Rome 21
Hong Kong 19
Wilmington 19
Ann Arbor 17
Guangzhou 16
Nanjing 16
Woodbridge 15
Des Moines 14
Montreal 13
Dearborn 10
Houston 9
Berlin 8
Naples 8
Toronto 8
Cambridge 7
Concepción 7
Piacenza 7
Seoul 7
Catania 6
Padova 6
Phoenix 6
Redwood City 6
Asheville 5
Monza 5
Nanchang 5
Tokyo 5
Turin 5
Atrani 4
Brescia 4
Dortmund 4
Florence 4
Grafing 4
Madrid 4
Marseille 4
San Francisco 4
Washington 4
Yongin-si 4
Ahmedabad 3
Bitonto 3
Brussels 3
Central 3
Changsha 3
Ealing 3
Groningen 3
Hangzhou 3
Jinan 3
Kilburn 3
Leffe 3
Leganés 3
Ljubljana 3
London 3
Miami 3
Mountain View 3
Ottawa 3
Redmond 3
Rho 3
Upper Marlboro 3
Verdello 3
Alba 2
Andover 2
Athens 2
Aurora 2
Baltimore 2
Bari 2
Basiglio 2
Bristol 2
Brno 2
Budapest 2
Buffalo 2
Campinas 2
Carate Brianza 2
Carugate 2
Cattolica 2
Chiari 2
Correzzana 2
El Paso 2
Falls Church 2
Fukuoka 2
Genoa 2
Grottammare 2
Hilversum 2
Iseo 2
Totale 1.314
Salva come PNG Salva come JPEG
Nome #
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 105
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 103
Deficit neonatale di vitamina b12 secondario a carenza materna: focus su pattern alimentari e intake nutrizionali in gravidanza 101
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome 95
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 92
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 91
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring 75
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum 63
Impact of COVID-19 lockdown in children with neurological disorders in Italy 60
Spinal cord calcification in an early-onset progressive leukoencephalopathy 58
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 56
Deficit neonatale e materno di vitamina B12: pattern alimentari e intake nutrizionali durante la gravidanza 50
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders 50
Ruxolitinib in Aicardi-Goutières syndrome 48
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome : diagnostic and disease-monitoring implications 46
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency 44
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features 43
New-born screening and vitamin B12 deficiency: model of management and description of a case history 42
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 41
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 40
Expanding the Spectrum of NUBPL-Related Leukodystrophy 38
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study 34
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al 33
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation 32
The epileptology of Aicardi-Goutières syndrome : electro-clinical-radiological findings 31
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child 30
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 29
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy 29
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period 28
Redox Imbalance in Neurological Disorders in Adults and Children 27
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 24
Type I Alexander disease: Update and validation of the clinical evolution-based classification 22
Cortical malformations and COL4A1 mutation: Three new cases 22
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 20
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 20
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy 18
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers 18
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation 16
Altered PLP1 splicing causes hypomyelination of early myelinating structures 16
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations 16
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome 15
RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum 15
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 15
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 15
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 14
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients 14
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 12
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A 11
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings 11
More Than Hypomyelination in Pol-III Disorder 11
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders 11
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 11
Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6) 11
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots 10
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 10
Neurotransmitter abnormalities and response to supplementation in SPG11 10
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 10
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction 10
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers 10
Endocrine and growth abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 10
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 10
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 10
Novel and emerging treatments for Aicardi-Goutières syndrome 9
Dysregulation of the immune system in Aicardi-Goutieres syndrome: another example in a TREX1-mutated patient 9
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum 9
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies 9
New Case of 4H Syndrome and a Review of the Literature 9
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy 9
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach 8
Cobalamin deficiency in the maternal-newborn dyad identified by neonatal screening: preliminary data from an observational study 8
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 8
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation 8
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease 8
New spastic paraplegia phenotype associated to mutation of NFU1 8
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients 8
Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis 8
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations 8
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing 7
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations 7
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration 7
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 7
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 7
Case definition and classification of leukodystrophies and leukoencephalopathies 7
How to look for intracranial calcification in children with neurological disorders: {CT}, {MRI}, or both of them? 7
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 7
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations 6
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 6
Calcifying leukoencephalopathies: new overlapping phenotypes 6
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies 6
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome 6
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder 5
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients 5
Role of epigenetics and alterations in RNA metabolism in leukodystrophies 4
Microbiota gut-brain axis : implications for pediatric-onset leukodystrophies 3
null 2
null 1
null 1
Totale 2.295
Salva come PNG Salva come JPEG
Categoria #
all - tutte 16.716
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 16.716
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202097 20 1 3 12 4 10 11 6 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
2023/20241.146 35 107 93 61 181 120 68 88 42 80 114 157
2024/202547 47 0 0 0 0 0 0 0 0 0 0 0
Totale 2.295