IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

GHEZZI, DANIELE
 Distribuzione geografica
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Continente #
AS - Asia 7.406
NA - Nord America 7.241
EU - Europa 6.230
SA - Sud America 927
AF - Africa 173
OC - Oceania 137
Continente sconosciuto - Info sul continente non disponibili 1
Totale 22.115
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Nazione #
US - Stati Uniti d'America 6.921
CN - Cina 2.593
SG - Singapore 1.857
IT - Italia 1.413
GB - Regno Unito 1.223
DE - Germania 829
BR - Brasile 679
HK - Hong Kong 664
RU - Federazione Russa 517
VN - Vietnam 498
IN - India 451
FR - Francia 430
SE - Svezia 294
BD - Bangladesh 276
NL - Olanda 252
IE - Irlanda 245
CA - Canada 241
JP - Giappone 238
FI - Finlandia 218
ES - Italia 212
ID - Indonesia 195
TR - Turchia 162
AU - Australia 129
AR - Argentina 103
PT - Portogallo 94
KR - Corea 93
BE - Belgio 75
AT - Austria 65
DK - Danimarca 65
CI - Costa d'Avorio 54
PL - Polonia 54
MX - Messico 46
CL - Cile 43
CH - Svizzera 41
IQ - Iraq 41
IL - Israele 40
TW - Taiwan 38
ZA - Sudafrica 33
SA - Arabia Saudita 29
UA - Ucraina 29
PH - Filippine 28
CO - Colombia 27
PK - Pakistan 27
TH - Thailandia 27
RO - Romania 26
GR - Grecia 25
EC - Ecuador 22
CZ - Repubblica Ceca 21
AE - Emirati Arabi Uniti 20
MA - Marocco 20
MY - Malesia 18
TN - Tunisia 18
IR - Iran 17
BA - Bosnia-Erzegovina 15
NO - Norvegia 15
UY - Uruguay 15
VE - Venezuela 15
UZ - Uzbekistan 13
EG - Egitto 12
HU - Ungheria 11
KE - Kenya 11
PE - Perù 11
OM - Oman 10
AZ - Azerbaigian 9
JO - Giordania 9
LT - Lituania 9
SK - Slovacchia (Repubblica Slovacca) 9
KW - Kuwait 8
LV - Lettonia 8
NP - Nepal 8
PY - Paraguay 8
CR - Costa Rica 7
HN - Honduras 7
LU - Lussemburgo 7
TT - Trinidad e Tobago 7
NZ - Nuova Zelanda 6
AL - Albania 5
QA - Qatar 5
BO - Bolivia 4
BY - Bielorussia 4
HR - Croazia 4
KG - Kirghizistan 4
LB - Libano 4
SN - Senegal 4
AM - Armenia 3
BG - Bulgaria 3
CY - Cipro 3
DZ - Algeria 3
EE - Estonia 3
KZ - Kazakistan 3
PS - Palestinian Territory 3
RS - Serbia 3
SI - Slovenia 3
BH - Bahrain 2
ET - Etiopia 2
EU - Europa 2
JM - Giamaica 2
KH - Cambogia 2
MK - Macedonia 2
PA - Panama 2
Totale 22.081
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Città #
Singapore 993
Ashburn 798
Southend 776
Hong Kong 586
Fairfield 563
Beijing 408
Milan 397
San Jose 330
Woodbridge 289
Wilmington 282
Seattle 279
Houston 266
Council Bluffs 243
Hanover 243
Dublin 242
Cambridge 221
Princeton 204
Dallas 193
Los Angeles 184
Guangzhou 178
Chandler 174
Helsinki 170
Frankfurt am Main 168
Ann Arbor 166
Hefei 164
Ho Chi Minh City 162
Jakarta 156
Santa Clara 149
Bengaluru 146
Rome 142
Shanghai 136
Nanjing 125
New York 120
Hanoi 117
Lauterbourg 116
Moscow 114
Redwood City 108
Toronto 105
Tokyo 101
Buffalo 96
Madrid 83
Munich 80
Nuremberg 73
Istanbul 72
São Paulo 72
Des Moines 71
London 63
San Diego 61
Phoenix 59
Tianjin 57
Dearborn 56
Abidjan 53
Amsterdam 52
Edinburgh 52
Seoul 52
Boardman 51
Bologna 50
Melbourne 48
Chicago 45
Shenzhen 42
Silver Spring 42
Hangzhou 41
Hyderabad 41
Montreal 40
Shenyang 40
Jinan 37
Boston 36
Paris 36
Parma 35
Washington 35
Atlanta 34
Vienna 34
Warsaw 34
Rio de Janeiro 32
Fuzhou 31
Changsha 30
Naples 30
Barcelona 29
Columbus 29
Lisbon 29
Aydin 28
Buenos Aires 26
Cangzhou 26
Sydney 25
Zhengzhou 25
Nanchang 24
Salt Lake City 24
Porto 23
Wuhan 23
Chengdu 22
Hebei 22
Turin 22
Bangkok 21
Düsseldorf 21
Groningen 21
Philadelphia 21
Santiago 21
Ankara 20
Manchester 20
Brussels 19
Totale 12.751
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Nome #
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations 1.263
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation 733
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients 606
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance 578
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 417
Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP? 401
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction 378
Mitochondrial DNA haplogroup K is associated with lower risk of Parkinson's disease in Italians 375
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum 324
Genetic diagnosis of Mendelian disorders via RNA sequencing 310
New missense variants of NDUFA11 associated with late-onset myopathy 277
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy 262
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence 262
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families 259
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 253
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS 249
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease 244
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 242
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? 236
Novel (ovario) leukodystrophy related to AARS2 mutations 235
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria 235
Parkin analysis in early onset Parkinson's disease 233
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency 229
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 228
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 226
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 224
Not only dominant, not only optic atrophy : expanding the clinical spectrum associated with OPA1 mutations 223
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children 222
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration 218
The mitochondrial aminoacyl tRNA synthetases : Genes and syndromes 217
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment 211
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator 209
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency 208
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions 206
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders 197
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration 191
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions 189
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature 189
Human diseases associated with defects in assembly of OXPHOS complexes 186
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease 180
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB 179
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting 178
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies 175
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant 174
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease 174
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 173
Mitochondrial dysfunction in Parkinson disease: Evidence in mutant PARK2 fibroblasts 172
Loss of apoptosis-inducing factor critically affects MIA40 function 171
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 170
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E) 169
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo 168
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy 168
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing 165
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells 163
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 161
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease 160
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations 159
Expanding the Spectrum of NUBPL-Related Leukodystrophy 156
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions 153
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement 153
Expanding the spectrum of neonatal-onset AIFM1-associated disorders 153
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects 150
Clinical implementation of RNA sequencing for Mendelian disease diagnostics 148
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 145
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder 143
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance 143
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 143
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly 143
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 141
Current and new next-generation sequencing approaches to study mitochondrial DNA 141
Mitochondrial Complex III Deficiency Caused by TTC19 Defects : Report of a Novel Mutation and Review of Literature 140
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes 139
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases 137
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis 127
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I 125
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients 124
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review 124
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions 122
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis 122
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood 122
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy 121
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine 120
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy 119
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 118
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy 118
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA 116
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 113
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies 111
Variants in ATP5F1B are associated with dominantly inherited dystonia 110
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency 110
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor 110
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency 109
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects 108
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease 106
Intrafamilial Variability in WARS2-Related Disorder: A Family Case 103
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions 102
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy 101
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation 101
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease 100
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia : a POLG mimic? 98
Totale 20.392
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Categoria #
all - tutte 64.213
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 64.213
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021113 0 0 0 0 0 0 0 0 0 0 0 113
2021/20221.606 116 84 73 133 109 181 110 120 177 155 96 252
2022/20231.749 208 86 146 138 158 289 73 104 197 64 150 136
2023/20242.237 87 169 104 197 360 168 190 178 109 153 227 295
2024/20254.478 190 365 152 406 396 335 288 372 280 377 447 870
2025/20267.916 899 606 699 685 642 527 979 508 853 520 808 190
Totale 22.933