CRIS Current Research Information System

CARELLI, VALERIO
 Distribuzione geografica
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Continente #
NA - Nord America 25.615
AS - Asia 22.099
EU - Europa 16.515
Continente sconosciuto - Info sul continente non disponibili 1.439
SA - Sud America 1.340
AF - Africa 1.219
OC - Oceania 64
Totale 68.291
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Nazione #
US - Stati Uniti d'America 25.092
SG - Singapore 6.036
CN - Cina 5.753
VN - Vietnam 4.859
IT - Italia 3.933
GB - Regno Unito 3.547
DE - Germania 2.342
HK - Hong Kong 1.534
SE - Svezia 1.391
FR - Francia 1.078
IN - India 999
BR - Brasile 951
RU - Federazione Russa 885
UA - Ucraina 755
KR - Corea 676
BD - Bangladesh 638
IE - Irlanda 529
JP - Giappone 489
NL - Olanda 426
FI - Finlandia 379
CI - Costa d'Avorio 374
ZA - Sudafrica 356
CA - Canada 300
EE - Estonia 260
AR - Argentina 177
CH - Svizzera 177
TG - Togo 173
ID - Indonesia 156
AT - Austria 151
SC - Seychelles 150
JO - Giordania 143
PH - Filippine 140
BG - Bulgaria 120
ES - Italia 108
MX - Messico 102
PL - Polonia 97
TH - Thailandia 85
TR - Turchia 85
IQ - Iraq 80
TW - Taiwan 75
PK - Pakistan 74
BE - Belgio 70
AU - Australia 54
GR - Grecia 52
CO - Colombia 45
EC - Ecuador 44
CL - Cile 40
SA - Arabia Saudita 39
JM - Giamaica 36
UZ - Uzbekistan 36
IR - Iran 34
LT - Lituania 34
PY - Paraguay 31
MA - Marocco 29
MY - Malesia 28
VE - Venezuela 26
RO - Romania 25
LB - Libano 24
CZ - Repubblica Ceca 22
KE - Kenya 21
DZ - Algeria 20
NG - Nigeria 20
CR - Costa Rica 18
HR - Croazia 18
AE - Emirati Arabi Uniti 16
PT - Portogallo 16
BY - Bielorussia 14
DK - Danimarca 13
PE - Perù 13
SN - Senegal 13
TN - Tunisia 13
AZ - Azerbaigian 12
KZ - Kazakistan 12
ET - Etiopia 11
NP - Nepal 11
SK - Slovacchia (Repubblica Slovacca) 11
AL - Albania 10
IL - Israele 9
DO - Repubblica Dominicana 8
HN - Honduras 8
NZ - Nuova Zelanda 8
PS - Palestinian Territory 8
RS - Serbia 8
SV - El Salvador 8
EG - Egitto 7
GT - Guatemala 7
MD - Moldavia 7
PA - Panama 7
UY - Uruguay 7
KG - Kirghizistan 6
NI - Nicaragua 6
A2 - ???statistics.table.value.countryCode.A2??? 5
BB - Barbados 5
GH - Ghana 5
MT - Malta 5
NO - Norvegia 5
SI - Slovenia 5
TT - Trinidad e Tobago 5
BH - Bahrain 4
GE - Georgia 4
Totale 66.753
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Città #
Singapore 4.123
Southend 3.022
Ashburn 2.504
Fairfield 2.253
San Jose 1.476
Hong Kong 1.431
Chandler 1.408
Hefei 1.408
Ho Chi Minh City 1.115
Woodbridge 1.040
Bologna 1.011
Seattle 1.003
Wilmington 969
Houston 966
Hanoi 910
Ann Arbor 842
Santa Clara 778
Council Bluffs 759
Princeton 739
Cambridge 731
Seoul 608
Beijing 572
Boardman 555
Dublin 521
Frankfurt am Main 477
Lauterbourg 450
Dong Ket 446
Dallas 441
Jacksonville 439
Los Angeles 431
New York 413
Abidjan 374
Tokyo 349
Nanjing 291
Westminster 290
Padova 278
Milan 273
Helsinki 269
Berlin 264
Redmond 240
Buffalo 214
Turin 189
Lomé 173
Da Nang 164
Jinan 157
Bengaluru 153
San Diego 153
Haiphong 149
Redondo Beach 148
Saint Petersburg 147
São Paulo 147
Amman 142
Rome 132
Bern 127
Guangzhou 121
Jakarta 118
Shenyang 115
Sofia 112
Shanghai 111
Changsha 105
Phoenix 99
Nuremberg 98
Nanchang 97
Tianjin 95
Hebei 92
Medford 90
Mülheim 90
Chicago 88
Florence 86
Falls Church 85
Johannesburg 83
London 80
Lappeenranta 77
Vienna 77
Parma 76
Redwood City 75
Boydton 71
Brussels 68
Des Moines 68
Montreal 68
Amsterdam 66
Atlanta 66
Munich 65
Naples 65
Zhengzhou 65
Hangzhou 64
Dearborn 62
Nagamachi 62
Toronto 61
Warsaw 60
Modena 56
The Dalles 56
Orem 55
Norwalk 54
Biên Hòa 50
Hải Dương 50
San Francisco 50
Jiaxing 49
Mahé 49
Olalla 48
Totale 42.162
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Nome #
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 708
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy 412
Eight human OPA1 isoforms, long and short: What are they for? 393
'Behr syndrome' with OPA1 compound heterozygote mutations 382
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 361
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 332
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia 320
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 319
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-obstruction 318
Spatiotemporal heterogeneity of SARS-CoV-2 diffusion at the city level using geographically weighted Poisson regression model: The case of Bologna, Italy 310
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 298
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 297
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 291
New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy 285
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 282
Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study 278
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 276
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 276
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy 276
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III 274
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment 273
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 270
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 268
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells 264
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 263
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 260
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 253
Brain diffusion-weighted imaging in Friedreich's ataxia. 250
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 248
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 245
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 244
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 244
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. 241
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 240
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. 238
Skeletal muscle pathology in MNGIE patients: blood vessels depletion 236
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 235
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors 234
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 232
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 231
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 229
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy 227
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference. 226
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 224
L’encefalomiopatia Mitocondriale Neurogastrointestinale (MNGIE): Il Fegato Come Nuova Fonte Di Timidina Fosforilasi 224
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant 222
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy 222
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 222
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 220
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 220
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 219
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 218
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 216
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 216
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 215
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 215
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 213
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 213
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) 212
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 212
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 211
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I 210
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 210
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome 209
Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity 208
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 207
Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy 207
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 206
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 205
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 204
Brain & Skeletal Muscle MRS Study in Patients with Myotonic Dystrophy Type 1 204
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 204
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Genetic Basis of Mitochondrial Optic Neuropathies. 201
Effect of energetic stress and the ceramide analogue C6-ceramide on thyroid oncocytoma cell lines. 201
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 201
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 200
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumours. 200
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 199
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 198
Idebenone treatment in Leber's hereditary optic neuropathy. 197
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. 197
A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function 195
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 195
Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III 195
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 195
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 194
Liver tissue: a proof-of-concept study for OLT in MNGIE patients 194
The Prognostic Roles of Gender and O6-Methylguanine-DNA Methyltransferase Methylation Status in Glioblastoma Patients: The Female Power 194
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 193
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 193
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 192
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 191
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). 190
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 190
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 190
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 190
Brain Diffusion Weighted Imaging (DWI) Study of Friedreich's Ataxia Patients 189
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy 189
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 188
Totale 23.980
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Categoria #
all - tutte 190.150
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 190.150
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20226.117 0 204 433 369 589 300 250 657 309 573 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
2025/202624.930 1.934 2.456 2.316 1.975 2.466 1.686 2.623 1.140 4.143 1.683 1.308 1.200
2026/20271.793 712 1.081 0 0 0 0 0 0 0 0 0 0
Totale 68.291