CRIS Current Research Information System

CAPORALI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 5.699
AS - Asia 5.661
EU - Europa 4.121
AF - Africa 339
SA - Sud America 300
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 1
Totale 16.133
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Nazione #
US - Stati Uniti d'America 5.618
SG - Singapore 1.596
CN - Cina 1.569
IT - Italia 1.390
VN - Vietnam 1.184
GB - Regno Unito 598
DE - Germania 450
HK - Hong Kong 408
SE - Svezia 369
FR - Francia 237
KR - Corea 226
IN - India 221
BR - Brasile 199
RU - Federazione Russa 187
NL - Olanda 173
IE - Irlanda 156
FI - Finlandia 118
CI - Costa d'Avorio 114
JP - Giappone 95
ZA - Sudafrica 84
UA - Ucraina 80
CH - Svizzera 66
TG - Togo 58
PH - Filippine 54
ID - Indonesia 51
CA - Canada 49
AT - Austria 48
AR - Argentina 47
BG - Bulgaria 46
JO - Giordania 43
SC - Seychelles 39
EE - Estonia 38
BD - Bangladesh 34
PL - Polonia 31
BE - Belgio 30
TH - Thailandia 27
TW - Taiwan 27
ES - Italia 26
TR - Turchia 21
MX - Messico 17
PK - Pakistan 15
EC - Ecuador 14
IQ - Iraq 14
SA - Arabia Saudita 14
CL - Cile 13
AU - Australia 11
CZ - Repubblica Ceca 10
MY - Malesia 10
DZ - Algeria 9
GR - Grecia 9
HR - Croazia 9
LT - Lituania 9
IR - Iran 8
MA - Marocco 8
CO - Colombia 7
RO - Romania 7
VE - Venezuela 7
NG - Nigeria 6
UZ - Uzbekistan 6
AL - Albania 5
AZ - Azerbaigian 5
KE - Kenya 5
PT - Portogallo 5
PY - Paraguay 5
RS - Serbia 5
DK - Danimarca 4
IL - Israele 4
KZ - Kazakistan 4
PA - Panama 4
PE - Perù 4
SN - Senegal 4
AE - Emirati Arabi Uniti 3
JM - Giamaica 3
KH - Cambogia 3
LB - Libano 3
NP - Nepal 3
SK - Slovacchia (Repubblica Slovacca) 3
TN - Tunisia 3
DM - Dominica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
GT - Guatemala 2
KG - Kirghizistan 2
LK - Sri Lanka 2
LV - Lettonia 2
MD - Moldavia 2
MG - Madagascar 2
MT - Malta 2
PS - Palestinian Territory 2
QA - Qatar 2
SI - Slovenia 2
UY - Uruguay 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BJ - Benin 1
BN - Brunei Darussalam 1
CR - Costa Rica 1
CY - Cipro 1
ET - Etiopia 1
Totale 16.121
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Città #
Singapore 1.130
Ashburn 671
Southend 493
Hefei 477
Bologna 461
Fairfield 454
Chandler 432
Hong Kong 381
San Jose 304
Ho Chi Minh City 272
Hanoi 219
Woodbridge 205
Seoul 202
Wilmington 190
Ann Arbor 187
Santa Clara 185
Dallas 183
Houston 182
Seattle 176
Beijing 161
Dublin 151
Princeton 140
Cambridge 129
Boardman 116
Abidjan 114
Redmond 113
Los Angeles 101
Dong Ket 97
Lauterbourg 96
New York 93
Council Bluffs 92
Tokyo 77
Helsinki 76
Turin 75
Milan 72
Frankfurt am Main 69
Lomé 58
Bern 55
Nanjing 52
Westminster 46
Boydton 45
Haiphong 45
Padova 44
Parma 44
Da Nang 43
Jakarta 43
Sofia 43
Amman 42
Berlin 42
Bengaluru 40
Rome 40
Florence 37
Redondo Beach 37
Buffalo 36
Vienna 35
Johannesburg 32
Shanghai 32
Redwood City 31
Brussels 30
Phoenix 30
Jinan 29
Nuremberg 29
São Paulo 29
Guangzhou 28
Modena 28
Lappeenranta 27
San Diego 27
Munich 23
Doylestown 21
London 21
The Dalles 21
Warrington 21
Chicago 20
Tianjin 20
Amsterdam 19
Nanchang 19
Tongling 19
Montreal 18
Naples 18
Warsaw 18
Changsha 17
Falls Church 17
Nijmegen 17
Brooklyn 15
Falkenstein 15
Kuban 15
Saint Petersburg 15
Thái Nguyên 15
Can Tho 14
Hải Dương 14
Pune 14
Shenyang 14
Zhengzhou 14
Biên Hòa 13
Jacksonville 13
Orem 13
Turku 13
Ancona 12
Des Moines 12
Hebei 12
Totale 10.297
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Nome #
'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
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 284
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 281
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
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 262
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 261
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 260
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
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 239
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 237
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
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 224
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
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 215
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 208
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 200
Genetic Basis of Mitochondrial Optic Neuropathies. 199
Epilepsy with auditory features: Contribution of known genes in 112 patients 199
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 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
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 196
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 194
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
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
Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models 187
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 187
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 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
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 183
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing 181
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 181
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 180
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 177
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma 176
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 165
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 165
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 162
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 161
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 160
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 157
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil 153
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations 152
Incomplete penetrance in mitochondrial optic neuropathies 152
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? 151
Multi-system neurological disease is common in patients with OPA1 mutations. 149
Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1 148
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 145
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 144
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 144
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 139
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs 137
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 133
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 133
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 131
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus 129
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions 128
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 128
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency 128
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III 127
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 124
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 123
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy 122
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica) 121
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 118
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts 118
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 117
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1 115
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 113
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 111
Novel mutations in DNA2 associated with myopathy and mtDNA instability 110
null 109
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 107
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 104
The relevance of migraine in the clinical spectrum of mitochondrial disorders 103
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. 102
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy 102
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 100
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype 99
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy 93
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis 91
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies 83
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients 81
null 78
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion 75
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights 73
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy 73
Mitochondrial diseases in adults 67
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants 59
The origin of modern North Africans as depicted by a massive survey of mitogenomes 57
Choroidal vascularity index in hereditary optic neuropathies 56
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 55
Totale 16.224
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Categoria #
all - tutte 43.922
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 43.922
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021377 0 0 0 0 0 0 0 0 0 55 49 273
2021/20221.526 59 46 86 76 131 63 45 214 101 136 325 244
2022/20232.111 186 239 96 235 204 237 95 115 310 59 198 137
2023/2024747 34 98 49 45 53 169 46 58 49 49 66 31
2024/20252.819 158 335 258 224 330 143 216 87 57 211 251 549
2025/20266.249 601 711 679 571 748 353 655 299 1.256 376 0 0
Totale 16.495