CRIS Current Research Information System

CAPORALI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 5.061
AS - Asia 4.152
EU - Europa 3.777
AF - Africa 298
SA - Sud America 255
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 13.555
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Nazione #
US - Stati Uniti d'America 4.998
SG - Singapore 1.431
CN - Cina 1.352
IT - Italia 1.278
GB - Regno Unito 582
DE - Germania 432
VN - Vietnam 395
SE - Svezia 367
HK - Hong Kong 347
KR - Corea 205
IN - India 197
RU - Federazione Russa 186
BR - Brasile 174
NL - Olanda 159
IE - Irlanda 148
FR - Francia 131
CI - Costa d'Avorio 112
FI - Finlandia 93
UA - Ucraina 72
CH - Svizzera 63
ZA - Sudafrica 61
TG - Togo 58
JP - Giappone 49
ID - Indonesia 48
AT - Austria 46
BG - Bulgaria 45
CA - Canada 42
JO - Giordania 42
AR - Argentina 38
EE - Estonia 38
SC - Seychelles 38
BE - Belgio 28
PL - Polonia 26
ES - Italia 20
BD - Bangladesh 17
EC - Ecuador 13
TR - Turchia 13
CL - Cile 11
AU - Australia 10
CZ - Repubblica Ceca 10
MX - Messico 9
GR - Grecia 8
IR - Iran 8
HR - Croazia 7
RO - Romania 7
CO - Colombia 6
DZ - Algeria 6
LT - Lituania 6
NG - Nigeria 6
PH - Filippine 5
PK - Pakistan 5
DK - Danimarca 4
MA - Marocco 4
MY - Malesia 4
PA - Panama 4
PE - Perù 4
PT - Portogallo 4
TW - Taiwan 4
UZ - Uzbekistan 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
KE - Kenya 3
KH - Cambogia 3
KZ - Kazakistan 3
PY - Paraguay 3
SN - Senegal 3
VE - Venezuela 3
AZ - Azerbaigian 2
DM - Dominica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
GT - Guatemala 2
IL - Israele 2
IQ - Iraq 2
LB - Libano 2
LK - Sri Lanka 2
LV - Lettonia 2
MT - Malta 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
UY - Uruguay 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BJ - Benin 1
BN - Brunei Darussalam 1
GD - Grenada 1
GN - Guinea 1
HU - Ungheria 1
IS - Islanda 1
JM - Giamaica 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MD - Moldavia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
OM - Oman 1
PS - Palestinian Territory 1
QA - Qatar 1
SI - Slovenia 1
SO - Somalia 1
Totale 13.551
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Città #
Singapore 982
Ashburn 620
Southend 493
Hefei 475
Fairfield 454
Bologna 437
Chandler 432
Hong Kong 342
Woodbridge 205
Seoul 201
Wilmington 190
Ann Arbor 187
Dallas 180
Houston 180
Santa Clara 177
Seattle 175
Beijing 156
Dublin 147
Princeton 140
Cambridge 128
Boardman 115
Redmond 113
Abidjan 112
Dong Ket 97
New York 89
Los Angeles 85
Turin 75
Ho Chi Minh City 67
Milan 67
Helsinki 58
Lomé 58
Frankfurt am Main 57
Bern 55
Nanjing 50
Hanoi 47
Westminster 46
Boydton 45
Padova 44
Parma 44
Sofia 43
Amman 42
Berlin 42
Tokyo 42
Jakarta 41
Bengaluru 39
Florence 37
Redondo Beach 37
Buffalo 34
Vienna 34
Rome 32
Redwood City 31
Jinan 29
Brussels 28
Phoenix 27
San Diego 27
Nuremberg 26
Shanghai 26
Munich 23
São Paulo 23
Doylestown 21
Warrington 21
Guangzhou 20
Lappeenranta 20
London 19
The Dalles 19
Tianjin 19
Tongling 19
Chicago 18
Modena 18
Falls Church 17
Naples 17
Nijmegen 17
Changsha 16
Haiphong 16
Nanchang 16
Falkenstein 15
Kuban 15
Saint Petersburg 15
Amsterdam 14
Brooklyn 14
Warsaw 14
Montreal 13
Pune 13
Turku 13
Zhengzhou 13
Ancona 12
Da Nang 12
Des Moines 12
Hebei 12
Jacksonville 12
Mülheim 12
Shenyang 12
Bari 11
Paris 11
Castel Maggiore 10
Medford 10
Toronto 10
Hangzhou 9
Johannesburg 9
Olalla 9
Totale 8.883
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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. 312
'Behr syndrome' with OPA1 compound heterozygote mutations 288
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 261
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 256
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 251
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 236
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 232
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 229
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 224
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 223
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 214
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 204
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 204
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 202
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 196
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 194
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors 193
Genetic Basis of Mitochondrial Optic Neuropathies. 191
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant 189
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 183
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 182
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 181
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 179
Epilepsy with auditory features: Contribution of known genes in 112 patients 171
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 169
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 168
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 167
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 164
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 164
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 164
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I 162
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 161
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing 160
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma 158
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 158
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 157
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 155
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 152
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 149
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 147
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) 146
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 146
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 145
Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models 142
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil 139
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 139
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 136
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 136
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 136
Incomplete penetrance in mitochondrial optic neuropathies 135
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations 133
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 133
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 132
Multi-system neurological disease is common in patients with OPA1 mutations. 132
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 131
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 128
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? 126
Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1 124
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 123
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions 116
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 116
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency 116
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 114
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 112
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 111
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs 111
null 109
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica) 108
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 108
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus 106
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 104
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy 102
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 100
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 99
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 98
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 96
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts 95
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. 94
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III 93
The relevance of migraine in the clinical spectrum of mitochondrial disorders 91
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 88
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1 87
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 85
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy 81
Novel mutations in DNA2 associated with myopathy and mtDNA instability 80
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 79
null 78
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype 75
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy 73
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis 72
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies 58
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights 58
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy 58
Mitochondrial diseases in adults 58
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion 58
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants 51
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 44
Choroidal vascularity index in hereditary optic neuropathies 42
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes 40
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm 35
Totale 13.811
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Categoria #
all - tutte 40.239
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 40.239
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021710 0 0 0 0 0 80 17 67 169 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
2025/20263.661 601 711 679 571 748 351 0 0 0 0 0 0
Totale 13.907