CRIS Current Research Information System

CARELLI, VALERIO
 Distribuzione geografica
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Continente #
NA - Nord America 22.707
AS - Asia 21.299
EU - Europa 15.749
SA - Sud America 1.279
AF - Africa 1.216
OC - Oceania 59
Continente sconosciuto - Info sul continente non disponibili 8
Totale 62.317
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Nazione #
US - Stati Uniti d'America 22.391
SG - Singapore 5.945
CN - Cina 5.663
VN - Vietnam 4.844
GB - Regno Unito 3.536
IT - Italia 3.299
DE - Germania 2.335
HK - Hong Kong 1.479
SE - Svezia 1.345
FR - Francia 1.066
IN - India 994
BR - Brasile 907
RU - Federazione Russa 883
UA - Ucraina 753
KR - Corea 676
IE - Irlanda 529
JP - Giappone 488
NL - Olanda 407
FI - Finlandia 378
CI - Costa d'Avorio 374
ZA - Sudafrica 356
EE - Estonia 260
CA - Canada 187
TG - Togo 173
AR - Argentina 171
CH - Svizzera 169
ID - Indonesia 156
AT - Austria 150
SC - Seychelles 147
JO - Giordania 143
PH - Filippine 140
BG - Bulgaria 120
BD - Bangladesh 105
ES - Italia 100
PL - Polonia 93
MX - Messico 90
TH - Thailandia 85
TR - Turchia 84
IQ - Iraq 80
TW - Taiwan 74
BE - Belgio 69
PK - Pakistan 69
GR - Grecia 52
AU - Australia 51
CO - Colombia 42
EC - Ecuador 42
CL - Cile 40
SA - Arabia Saudita 39
UZ - Uzbekistan 36
IR - Iran 33
LT - Lituania 32
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 15
BY - Bielorussia 14
DK - Danimarca 13
SN - Senegal 13
TN - Tunisia 13
AZ - Azerbaigian 12
KZ - Kazakistan 12
ET - Etiopia 11
NP - Nepal 11
PE - Perù 11
SK - Slovacchia (Repubblica Slovacca) 11
AL - Albania 10
IL - Israele 9
DO - Repubblica Dominicana 8
PS - Palestinian Territory 8
EG - Egitto 7
PA - Panama 7
RS - Serbia 7
KG - Kirghizistan 6
NZ - Nuova Zelanda 6
A2 - ???statistics.table.value.countryCode.A2??? 5
CR - Costa Rica 5
GH - Ghana 5
JM - Giamaica 5
MD - Moldavia 5
MT - Malta 5
SI - Slovenia 5
UY - Uruguay 5
BH - Bahrain 4
GT - Guatemala 4
HU - Ungheria 4
LK - Sri Lanka 4
LU - Lussemburgo 4
LV - Lettonia 4
OM - Oman 4
AM - Armenia 3
AO - Angola 3
Totale 62.234
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Città #
Singapore 4.046
Southend 3.022
Ashburn 2.335
Fairfield 2.253
Chandler 1.408
Hefei 1.408
Hong Kong 1.385
San Jose 1.222
Ho Chi Minh City 1.108
Woodbridge 1.038
Seattle 998
Wilmington 966
Houston 953
Bologna 950
Hanoi 906
Ann Arbor 842
Princeton 739
Cambridge 727
Santa Clara 673
Seoul 608
Beijing 533
Dublin 520
Boardman 507
Frankfurt am Main 477
Lauterbourg 450
Dong Ket 446
Jacksonville 433
Dallas 400
Abidjan 374
Los Angeles 360
Tokyo 349
Council Bluffs 292
Nanjing 291
Westminster 290
Padova 278
New York 270
Helsinki 269
Berlin 264
Redmond 240
Milan 212
Turin 177
Lomé 173
Buffalo 172
Da Nang 164
Jinan 157
Bengaluru 151
Haiphong 149
Redondo Beach 148
Saint Petersburg 147
San Diego 143
Amman 142
Bern 127
São Paulo 125
Guangzhou 120
Jakarta 118
Shenyang 115
Sofia 112
Changsha 105
Shanghai 105
Nuremberg 98
Nanchang 97
Tianjin 95
Hebei 92
Medford 90
Mülheim 90
Rome 90
Falls Church 84
Johannesburg 83
Lappeenranta 77
London 77
Vienna 77
Florence 76
Parma 76
Redwood City 75
Chicago 74
Boydton 70
Phoenix 70
Des Moines 68
Brussels 67
Munich 65
Zhengzhou 65
Amsterdam 64
Nagamachi 62
Hangzhou 61
Dearborn 59
Warsaw 58
The Dalles 54
Norwalk 53
Biên Hòa 50
Hải Dương 50
Montreal 50
Jiaxing 49
Mahé 49
Olalla 48
Paris 47
Tongling 47
Atlanta 46
Falkenstein 46
Modena 46
Orem 46
Totale 40.233
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Nome #
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 674
Eight human OPA1 isoforms, long and short: What are they for? 377
'Behr syndrome' with OPA1 compound heterozygote mutations 367
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 344
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 304
Spatiotemporal heterogeneity of SARS-CoV-2 diffusion at the city level using geographically weighted Poisson regression model: The case of Bologna, Italy 295
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 284
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 284
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 281
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia 280
Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study 273
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 270
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 267
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 265
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-obstruction 264
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment 263
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 262
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 262
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 260
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells 257
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy 251
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 247
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 244
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 242
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 241
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 239
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. 238
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 237
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 234
Brain diffusion-weighted imaging in Friedreich's ataxia. 229
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors 227
Skeletal muscle pathology in MNGIE patients: blood vessels depletion 226
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. 225
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 224
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 223
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference. 220
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 219
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant 218
L’encefalomiopatia Mitocondriale Neurogastrointestinale (MNGIE): Il Fegato Come Nuova Fonte Di Timidina Fosforilasi 218
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy 218
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III 217
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 215
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 214
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 213
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 209
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 208
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 208
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 207
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 207
Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity 206
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 206
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 201
Brain & Skeletal Muscle MRS Study in Patients with Myotonic Dystrophy Type 1 201
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 200
Genetic Basis of Mitochondrial Optic Neuropathies. 199
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 198
Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy 198
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I 197
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 197
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 196
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 196
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 196
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 195
Effect of energetic stress and the ceramide analogue C6-ceramide on thyroid oncocytoma cell lines. 194
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumours. 194
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 194
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 194
New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy 194
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 193
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 193
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 192
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. 192
A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function 190
Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III 190
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 190
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) 189
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 189
The Prognostic Roles of Gender and O6-Methylguanine-DNA Methyltransferase Methylation Status in Glioblastoma Patients: The Female Power 189
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 189
Idebenone treatment in Leber's hereditary optic neuropathy. 188
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). 187
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 187
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 187
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 186
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 186
Liver tissue: a proof-of-concept study for OLT in MNGIE patients 186
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 186
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 186
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 185
Brain Diffusion Weighted Imaging (DWI) Study of Friedreich's Ataxia Patients 185
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 185
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands 184
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 183
Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α. 183
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 182
Effect of energetic stress and the ceramide analogue C6-ceramide on thyroid oncocytoma cell lines 182
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 182
miRNAs expression analysis in paired fresh/frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time pCR. 181
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 181
Totale 22.397
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Categoria #
all - tutte 169.550
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 169.550
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.830 0 0 0 0 0 0 0 0 0 276 220 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
2025/202622.173 1.934 2.456 2.316 1.975 2.466 1.686 2.623 1.140 4.143 1.434 0 0
Totale 63.741