CRIS Current Research Information System

CARELLI, VALERIO
 Distribuzione geografica
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Continente #
NA - Nord America 24.213
AS - Asia 21.908
EU - Europa 16.280
SA - Sud America 1.315
AF - Africa 1.216
OC - Oceania 64
Continente sconosciuto - Info sul continente non disponibili 9
Totale 65.005
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Nazione #
US - Stati Uniti d'America 23.810
SG - Singapore 5.990
CN - Cina 5.719
VN - Vietnam 4.849
IT - Italia 3.776
GB - Regno Unito 3.544
DE - Germania 2.342
HK - Hong Kong 1.504
SE - Svezia 1.346
FR - Francia 1.071
IN - India 996
BR - Brasile 938
RU - Federazione Russa 884
UA - Ucraina 753
KR - Corea 676
BD - Bangladesh 572
IE - Irlanda 529
JP - Giappone 488
NL - Olanda 418
FI - Finlandia 379
CI - Costa d'Avorio 374
ZA - Sudafrica 356
EE - Estonia 260
CA - Canada 248
CH - Svizzera 175
TG - Togo 173
AR - Argentina 172
ID - Indonesia 156
AT - Austria 151
SC - Seychelles 147
JO - Giordania 143
PH - Filippine 140
BG - Bulgaria 120
ES - Italia 105
MX - Messico 96
PL - Polonia 94
TH - Thailandia 85
TR - Turchia 85
IQ - Iraq 80
TW - Taiwan 75
PK - Pakistan 74
BE - Belgio 69
AU - Australia 54
GR - Grecia 52
CO - Colombia 44
EC - Ecuador 43
CL - Cile 40
SA - Arabia Saudita 39
UZ - Uzbekistan 36
IR - Iran 34
LT - Lituania 34
PY - Paraguay 31
MA - Marocco 29
MY - Malesia 27
LB - Libano 24
RO - Romania 24
VE - Venezuela 24
CZ - Repubblica Ceca 22
KE - Kenya 21
DZ - Algeria 20
NG - Nigeria 20
HR - Croazia 18
AE - Emirati Arabi Uniti 16
PT - Portogallo 16
BY - Bielorussia 14
DK - Danimarca 13
JM - Giamaica 13
SN - Senegal 13
TN - Tunisia 13
AZ - Azerbaigian 12
KZ - Kazakistan 12
PE - Perù 12
ET - Etiopia 11
NP - Nepal 11
SK - Slovacchia (Repubblica Slovacca) 11
AL - Albania 10
IL - Israele 9
DO - Repubblica Dominicana 8
NZ - Nuova Zelanda 8
PS - Palestinian Territory 8
RS - Serbia 8
EG - Egitto 7
PA - Panama 7
CR - Costa Rica 6
KG - Kirghizistan 6
MD - Moldavia 6
A2 - ???statistics.table.value.countryCode.A2??? 5
GH - Ghana 5
MT - Malta 5
NO - Norvegia 5
SI - Slovenia 5
UY - Uruguay 5
BH - Bahrain 4
GE - Georgia 4
GT - Guatemala 4
HU - Ungheria 4
LK - Sri Lanka 4
LU - Lussemburgo 4
LV - Lettonia 4
OM - Oman 4
Totale 64.910
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Città #
Singapore 4.082
Southend 3.022
Ashburn 2.458
Fairfield 2.253
San Jose 1.442
Hong Kong 1.409
Chandler 1.408
Hefei 1.408
Ho Chi Minh City 1.111
Woodbridge 1.039
Seattle 1.000
Bologna 990
Wilmington 967
Houston 956
Hanoi 908
Ann Arbor 842
Princeton 739
Santa Clara 735
Cambridge 731
Seoul 608
Beijing 558
Boardman 545
Dublin 521
Frankfurt am Main 477
Lauterbourg 450
Council Bluffs 447
Dong Ket 446
Jacksonville 438
Dallas 426
Los Angeles 409
Abidjan 374
New York 367
Tokyo 349
Nanjing 291
Westminster 290
Padova 278
Helsinki 269
Berlin 264
Milan 259
Redmond 240
Buffalo 208
Turin 187
Lomé 173
Da Nang 164
Jinan 157
Bengaluru 153
Haiphong 149
San Diego 149
Redondo Beach 148
Saint Petersburg 147
São Paulo 146
Amman 142
Bern 127
Guangzhou 120
Jakarta 118
Rome 118
Shenyang 115
Sofia 112
Shanghai 107
Changsha 105
Nuremberg 98
Nanchang 97
Tianjin 95
Hebei 92
Medford 90
Mülheim 90
Phoenix 86
Falls Church 85
Florence 84
Johannesburg 83
Chicago 80
Lappeenranta 77
London 77
Vienna 77
Parma 76
Redwood City 75
Boydton 70
Des Moines 68
Brussels 67
Amsterdam 66
Munich 65
Zhengzhou 65
Hangzhou 64
Nagamachi 62
Montreal 61
Dearborn 59
Warsaw 58
Atlanta 56
Naples 56
Toronto 56
Modena 54
Norwalk 54
The Dalles 54
Orem 51
Biên Hòa 50
Hải Dương 50
Jiaxing 49
Mahé 49
Olalla 48
Paris 47
Totale 41.392
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Nome #
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 696
Eight human OPA1 isoforms, long and short: What are they for? 384
'Behr syndrome' with OPA1 compound heterozygote mutations 377
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 354
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 320
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia 313
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 307
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-obstruction 307
Spatiotemporal heterogeneity of SARS-CoV-2 diffusion at the city level using geographically weighted Poisson regression model: The case of Bologna, Italy 306
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 291
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 289
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 284
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 278
New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy 278
Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study 275
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 274
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment 272
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy 270
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 267
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 266
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 265
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells 260
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 256
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 253
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III 252
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 250
Brain diffusion-weighted imaging in Friedreich's ataxia. 249
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 245
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 243
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 241
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 240
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. 239
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 236
Skeletal muscle pathology in MNGIE patients: blood vessels depletion 235
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. 234
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors 231
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 230
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 226
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 225
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 225
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference. 223
L’encefalomiopatia Mitocondriale Neurogastrointestinale (MNGIE): Il Fegato Come Nuova Fonte Di Timidina Fosforilasi 221
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant 220
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy 219
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy 218
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 216
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 214
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 214
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 214
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 212
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 211
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 211
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 211
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 210
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 210
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 209
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 209
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I 208
Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity 208
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome 206
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 206
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 205
Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy 205
Brain & Skeletal Muscle MRS Study in Patients with Myotonic Dystrophy Type 1 203
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 202
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 202
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 202
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3) 201
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 201
Genetic Basis of Mitochondrial Optic Neuropathies. 200
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 200
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 200
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 199
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumours. 199
Effect of energetic stress and the ceramide analogue C6-ceramide on thyroid oncocytoma cell lines. 198
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 198
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 198
Idebenone treatment in Leber's hereditary optic neuropathy. 196
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. 195
A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function 193
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 193
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 193
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 192
Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III 192
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 191
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 191
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 190
The Prognostic Roles of Gender and O6-Methylguanine-DNA Methyltransferase Methylation Status in Glioblastoma Patients: The Female Power 190
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 190
Epilepsy in primary cerebral tumors: the characteristics of epilepsy at the onset (results from the PERNO study--Project of Emilia Romagna Region on Neuro-Oncology). 189
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 189
Brain Diffusion Weighted Imaging (DWI) Study of Friedreich's Ataxia Patients 188
Liver tissue: a proof-of-concept study for OLT in MNGIE patients 188
ATP depletion and caspase independent death of cybrids bearing Leber's Hereditary Optic neuropathy MTDNA mutations incubated in galactose medium. A model for endonuclease G-mediated apoptosis 186
Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α. 186
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease 185
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 185
miRNAs expression analysis in paired fresh/frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time pCR. 185
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 185
Totale 23.300
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Categoria #
all - tutte 181.245
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 181.245
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.334 0 0 0 0 0 0 0 0 0 0 0 1.334
2021/20226.530 413 204 433 369 589 300 250 657 309 573 1.338 1.095
2022/20236.942 737 930 367 832 506 591 287 417 1.106 190 591 388
2023/20242.364 122 336 170 164 190 438 222 166 94 206 129 127
2024/20258.993 340 1.289 796 735 1.231 469 675 326 194 499 599 1.840
2025/202624.865 1.934 2.456 2.316 1.975 2.466 1.686 2.623 1.140 4.143 1.683 1.308 1.135
Totale 66.433