CRIS Current Research Information System

CARELLI, VALERIO
 Distribuzione geografica
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Continente #
NA - Nord America 16.597
EU - Europa 11.692
AS - Asia 5.066
AF - Africa 658
SA - Sud America 39
OC - Oceania 28
Continente sconosciuto - Info sul continente non disponibili 5
Totale 34.085
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Nazione #
US - Stati Uniti d'America 16.527
GB - Regno Unito 3.328
IT - Italia 2.306
CN - Cina 1.845
DE - Germania 1.674
SE - Svezia 1.314
SG - Singapore 1.117
VN - Vietnam 985
UA - Ucraina 711
IN - India 670
IE - Irlanda 509
FR - Francia 467
RU - Federazione Russa 445
EE - Estonia 258
ZA - Sudafrica 245
TG - Togo 173
CI - Costa d'Avorio 166
CH - Svizzera 156
JO - Giordania 130
JP - Giappone 121
BG - Bulgaria 115
FI - Finlandia 92
HK - Hong Kong 84
NL - Olanda 63
SC - Seychelles 55
CA - Canada 52
BE - Belgio 48
GR - Grecia 44
AT - Austria 29
AU - Australia 24
PL - Polonia 22
IR - Iran 21
ES - Italia 20
BR - Brasile 19
CZ - Repubblica Ceca 17
RO - Romania 17
MX - Messico 16
CL - Cile 15
NG - Nigeria 15
TR - Turchia 14
HR - Croazia 13
LB - Libano 12
TW - Taiwan 12
PK - Pakistan 11
PT - Portogallo 8
UZ - Uzbekistan 8
DK - Danimarca 7
KR - Corea 6
A2 - ???statistics.table.value.countryCode.A2??? 5
PH - Filippine 5
SK - Slovacchia (Repubblica Slovacca) 5
AE - Emirati Arabi Uniti 4
HU - Ungheria 4
MY - Malesia 4
NZ - Nuova Zelanda 4
IL - Israele 3
KZ - Kazakistan 3
LU - Lussemburgo 3
AR - Argentina 2
LK - Sri Lanka 2
LT - Lituania 2
LV - Lettonia 2
MC - Monaco 2
MD - Moldavia 2
MT - Malta 2
PE - Perù 2
RS - Serbia 2
SI - Slovenia 2
SN - Senegal 2
AM - Armenia 1
AZ - Azerbaigian 1
BD - Bangladesh 1
BN - Brunei Darussalam 1
CR - Costa Rica 1
EG - Egitto 1
GE - Georgia 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
MK - Macedonia 1
MN - Mongolia 1
NO - Norvegia 1
PA - Panama 1
PY - Paraguay 1
SM - San Marino 1
TH - Thailandia 1
UG - Uganda 1
Totale 34.085
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Città #
Southend 3.022
Fairfield 2.253
Chandler 1.408
Ashburn 1.342
Woodbridge 1.038
Seattle 972
Singapore 970
Wilmington 965
Houston 932
Ann Arbor 842
Princeton 739
Cambridge 716
Bologna 635
Dublin 504
Dong Ket 446
Jacksonville 430
Westminster 290
Nanjing 274
Padova 272
Berlin 261
Redmond 240
Santa Clara 198
Lomé 173
Turin 172
Abidjan 166
New York 151
Jinan 148
Saint Petersburg 147
San Diego 142
Milan 137
Amman 130
Bern 127
Shenyang 111
Sofia 109
Beijing 96
Hebei 92
Mülheim 90
Nanchang 90
Medford 86
Falls Church 84
Changsha 80
Hong Kong 77
Tianjin 76
Redwood City 75
Helsinki 70
Florence 69
Boydton 68
Des Moines 66
Guangzhou 66
Boardman 63
Nagamachi 62
Dearborn 59
Los Angeles 59
Norwalk 53
Shanghai 52
Frankfurt am Main 51
Jiaxing 49
Mahé 49
Brussels 48
Olalla 48
Zhengzhou 47
Hangzhou 41
Rome 37
Haikou 34
Taizhou 34
London 33
Ningbo 31
Pune 30
Tokyo 30
Verona 30
Kuban 29
Phoenix 29
Paris 28
Ancona 27
Washington 27
Bühl 26
Fuzhou 25
Taiyuan 25
Chicago 24
Toronto 24
Kamiochiai 23
Bremen 22
Warrington 21
Doylestown 20
Lappeenranta 20
Naples 20
San Francisco 20
Amsterdam 19
Nijmegen 19
Kunming 18
Costa Mesa 16
Hyderabad 16
Mountain View 16
Parma 16
Vienna 16
Xi'an 16
Modena 15
Shenzhen 15
Abeokuta 14
Casalecchio di Reno 14
Totale 23.207
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Nome #
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 237
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia 209
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 208
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 198
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 196
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment 191
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 191
'Behr syndrome' with OPA1 compound heterozygote mutations 187
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. 176
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 175
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 174
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 173
Skeletal muscle pathology in MNGIE patients: blood vessels depletion 173
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells 171
Brain diffusion-weighted imaging in Friedreich's ataxia. 168
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 163
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 163
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 160
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 158
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. 157
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III 157
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 154
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 153
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 152
Bioenergetics of mitochondrial diseases associated with mtDNA mutations. 151
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors 151
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 150
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy 149
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 148
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 148
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference. 147
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 147
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. 146
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 145
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 145
Eight human OPA1 isoforms, long and short: What are they for? 143
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 143
L’encefalomiopatia Mitocondriale Neurogastrointestinale (MNGIE): Il Fegato Come Nuova Fonte Di Timidina Fosforilasi 142
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 141
Genetic Basis of Mitochondrial Optic Neuropathies. 140
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. 140
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. 140
Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study 140
Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. 135
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 135
Cell death of fibroblasts derived from patients with Leber’s hereditary optic neuropathy mtDNA mutations 133
Brain & Skeletal Muscle MRS Study in Patients with Myotonic Dystrophy Type 1 133
miRNAs expression analysis in paired fresh/frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time pCR. 132
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 131
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 131
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 131
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 131
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 131
Idebenone treatment in Leber's hereditary optic neuropathy. 130
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 129
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 129
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 129
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 129
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 128
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 128
A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function 128
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 128
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. 126
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 125
Dominance in mitochondrial disorders. 124
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 123
Leber's Hereditary optic Neuropathy 123
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 123
Comparative bioenergetic studies of cells carrying the 8993T>G or 8993T>C mitochondrial DNA mutations. 122
Brain Diffusion Weighted Imaging (DWI) Study of Friedreich's Ataxia Patients 122
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy 122
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. 121
Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy 121
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumours. 121
Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α. 121
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 120
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 119
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). 119
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 119
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 119
Effect of energetic stress and the ceramide analogue C6-ceramide on thyroid oncocytoma cell lines. 118
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization 118
Bioenergetics shapes cellular death pathways in Leber’s hereditary optic neuropathy: a model of mitochondrial neurodegeneration 118
Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study. 117
AIF and endonuclease G are involved in the caspase-indepenent death of cybrids with LHON mutations 117
OPA1: how much do we know to approach therapy? 116
Mitochondrial dysfunction as a cause of optic neuropathies 115
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 115
Bioenergetic changes associated with the T8993G mutation of the mtDNA ATP6 gene. 115
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 115
Cerebellar proton mr spectroscopy study in friedreich’s ataxia patients 114
Clinical syndromes associated with mtDNA mutations: Where we stand after 30 years 114
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 114
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy 113
Severe impairment of Complex I-driven adenosine triphosphate synthesis in leber hereditarfy optic neuropathy cybrids 113
Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. 113
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 113
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 113
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 113
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA 112
Totale 13.967
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Categoria #
all - tutte 95.026
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 95.026
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20207.309 0 0 0 484 864 853 1.064 1.207 1.411 547 406 473
2020/20214.862 1.004 314 127 264 131 296 90 368 438 276 220 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
2024/20252.651 340 1.289 796 226 0 0 0 0 0 0 0 0
Totale 35.226