CRIS Current Research Information System

CAPORALI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 6.054
AS - Asia 5.797
EU - Europa 4.275
AF - Africa 339
SA - Sud America 308
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 2
Totale 16.787
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Nazione #
US - Stati Uniti d'America 5.953
SG - Singapore 1.600
CN - Cina 1.582
IT - Italia 1.530
VN - Vietnam 1.184
GB - Regno Unito 598
DE - Germania 450
HK - Hong Kong 412
SE - Svezia 369
FR - Francia 237
KR - Corea 226
IN - India 222
BR - Brasile 207
RU - Federazione Russa 187
NL - Olanda 177
IE - Irlanda 156
BD - Bangladesh 148
FI - Finlandia 118
CI - Costa d'Avorio 114
JP - Giappone 95
ZA - Sudafrica 84
UA - Ucraina 80
CH - Svizzera 70
CA - Canada 63
TG - Togo 58
PH - Filippine 54
ID - Indonesia 51
AT - Austria 49
AR - Argentina 47
BG - Bulgaria 46
JO - Giordania 43
SC - Seychelles 39
EE - Estonia 38
PL - Polonia 31
BE - Belgio 30
ES - Italia 28
TH - Thailandia 27
TW - Taiwan 27
TR - Turchia 21
MX - Messico 20
PK - Pakistan 15
EC - Ecuador 14
IQ - Iraq 14
SA - Arabia Saudita 14
CL - Cile 13
AU - Australia 11
CZ - Repubblica Ceca 10
LT - Lituania 10
MY - Malesia 10
DZ - Algeria 9
GR - Grecia 9
HR - Croazia 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
NO - Norvegia 2
PS - Palestinian Territory 2
QA - Qatar 2
SI - Slovenia 2
UY - Uruguay 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
BJ - Benin 1
BN - Brunei Darussalam 1
CR - Costa Rica 1
Totale 16.770
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Città #
Singapore 1.132
Ashburn 699
Southend 493
Bologna 478
Hefei 477
Fairfield 454
Chandler 432
Hong Kong 384
San Jose 371
Ho Chi Minh City 272
Hanoi 219
Woodbridge 205
Seoul 202
Santa Clara 196
Wilmington 190
Ann Arbor 187
Dallas 187
Houston 183
Seattle 176
Beijing 165
Dublin 151
Princeton 140
Cambridge 129
Boardman 128
Los Angeles 118
New York 115
Abidjan 114
Redmond 113
Council Bluffs 108
Dong Ket 97
Lauterbourg 96
Milan 80
Tokyo 77
Turin 77
Helsinki 76
Frankfurt am Main 69
Lomé 58
Bern 55
Nanjing 52
Buffalo 47
Rome 46
Westminster 46
Boydton 45
Haiphong 45
Padova 44
Parma 44
Da Nang 43
Jakarta 43
Sofia 43
Amman 42
Berlin 42
Bengaluru 41
Florence 38
Redondo Beach 37
São Paulo 35
Vienna 35
Shanghai 33
Johannesburg 32
Phoenix 32
Modena 31
Redwood City 31
Brussels 30
Jinan 29
Nuremberg 29
San Diego 29
Guangzhou 28
Lappeenranta 27
Munich 23
Naples 23
Doylestown 21
London 21
Montreal 21
The Dalles 21
Warrington 21
Chicago 20
Tianjin 20
Amsterdam 19
Nanchang 19
Tongling 19
Warsaw 18
Changsha 17
Falls Church 17
Nijmegen 17
Brooklyn 16
Rimini 16
Falkenstein 15
Kuban 15
Saint Petersburg 15
Thái Nguyên 15
Atlanta 14
Can Tho 14
Hải Dương 14
Pune 14
Shenyang 14
Zhengzhou 14
Biên Hòa 13
Jacksonville 13
Orem 13
Toronto 13
Turku 13
Totale 10.560
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Nome #
'Behr syndrome' with OPA1 compound heterozygote mutations 377
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 353
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 320
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 291
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 289
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 283
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 274
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 267
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 266
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 265
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 256
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 253
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 250
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 240
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 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 231
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 230
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 225
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant 220
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 212
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 211
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 211
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I 208
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 205
Epilepsy with auditory features: Contribution of known genes in 112 patients 203
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
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) 201
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 201
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 201
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 201
Genetic Basis of Mitochondrial Optic Neuropathies. 200
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 199
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 198
Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models 197
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 192
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 192
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 190
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 188
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 185
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 182
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 181
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations 181
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma 180
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 176
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 168
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 166
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 165
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 164
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 162
Incomplete penetrance in mitochondrial optic neuropathies 155
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil 153
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? 152
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions 151
Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1 151
Multi-system neurological disease is common in patients with OPA1 mutations. 150
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 149
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 146
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 145
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 145
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs 142
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 139
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 135
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 134
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus 133
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 133
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 131
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III 131
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency 129
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy 126
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 124
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 124
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica) 123
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1 122
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts 121
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 117
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 114
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 112
Novel mutations in DNA2 associated with myopathy and mtDNA instability 112
null 109
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 108
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy 105
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 105
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
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 100
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients 96
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy 95
The origin of modern North Africans as depicted by a massive survey of mitogenomes 94
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis 92
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies 89
null 78
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion 77
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights 75
Choroidal vascularity index in hereditary optic neuropathies 75
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy 75
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants 72
Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstruction 71
Mitochondrial diseases in adults 69
Totale 16.819
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Categoria #
all - tutte 46.767
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 46.767
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021273 0 0 0 0 0 0 0 0 0 0 0 273
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
2025/20266.903 601 711 679 571 748 353 655 299 1.256 433 384 213
Totale 17.149