CRIS Current Research Information System

CAPORALI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 6.331
AS - Asia 5.848
EU - Europa 4.363
Continente sconosciuto - Info sul continente non disponibili 364
AF - Africa 341
SA - Sud America 317
OC - Oceania 12
Totale 17.576
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Nazione #
US - Stati Uniti d'America 6.197
SG - Singapore 1.611
CN - Cina 1.595
IT - Italia 1.591
VN - Vietnam 1.189
GB - Regno Unito 599
DE - Germania 450
HK - Hong Kong 417
SE - Svezia 384
FR - Francia 237
KR - Corea 226
IN - India 222
BR - Brasile 213
RU - Federazione Russa 188
NL - Olanda 181
BD - Bangladesh 165
IE - Irlanda 156
FI - Finlandia 119
CI - Costa d'Avorio 114
JP - Giappone 95
ZA - Sudafrica 84
UA - Ucraina 80
CA - Canada 75
CH - Svizzera 72
TG - Togo 58
PH - Filippine 54
ID - Indonesia 51
AT - Austria 49
AR - Argentina 48
BG - Bulgaria 46
JO - Giordania 43
SC - Seychelles 41
EE - Estonia 38
PL - Polonia 32
BE - Belgio 30
ES - Italia 29
TH - Thailandia 27
TW - Taiwan 27
MX - Messico 23
TR - Turchia 21
EC - Ecuador 15
PK - Pakistan 15
IQ - Iraq 14
SA - Arabia Saudita 14
CL - Cile 13
AU - Australia 11
JM - Giamaica 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
RO - Romania 8
CO - Colombia 7
VE - Venezuela 7
NG - Nigeria 6
UZ - Uzbekistan 6
AL - Albania 5
AZ - Azerbaigian 5
GT - Guatemala 5
KE - Kenya 5
PT - Portogallo 5
PY - Paraguay 5
RS - Serbia 5
CR - Costa Rica 4
DK - Danimarca 4
IL - Israele 4
KZ - Kazakistan 4
PA - Panama 4
PE - Perù 4
SN - Senegal 4
AE - Emirati Arabi Uniti 3
KH - Cambogia 3
LB - Libano 3
NP - Nepal 3
SK - Slovacchia (Repubblica Slovacca) 3
TN - Tunisia 3
UY - Uruguay 3
BB - Barbados 2
DM - Dominica 2
DO - Repubblica Dominicana 2
EG - Egitto 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
SV - El Salvador 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BJ - Benin 1
Totale 17.195
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Città #
Singapore 1.141
Ashburn 709
Southend 493
Bologna 488
Hefei 477
Fairfield 454
Chandler 432
San Jose 392
Hong Kong 388
Ho Chi Minh City 274
Hanoi 221
Santa Clara 210
Woodbridge 205
Seoul 202
Wilmington 191
Houston 189
Ann Arbor 187
Dallas 187
Seattle 176
Council Bluffs 175
Beijing 171
Dublin 151
Princeton 140
Boardman 130
New York 130
Cambridge 129
Los Angeles 120
Abidjan 114
Redmond 113
Dong Ket 97
Lauterbourg 96
Milan 84
Tokyo 77
Turin 77
Helsinki 76
Frankfurt am Main 69
Lomé 58
Bern 55
Nanjing 52
Buffalo 49
Rome 47
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
Phoenix 33
Shanghai 33
Johannesburg 32
Modena 32
Redwood City 31
Brussels 30
Jinan 29
Nuremberg 29
San Diego 29
Guangzhou 28
Naples 28
Lappeenranta 27
Munich 23
Doylestown 22
London 22
Montreal 22
Chicago 21
The Dalles 21
Warrington 21
Amsterdam 20
Tianjin 20
Nanchang 19
Tongling 19
Warsaw 18
Atlanta 17
Brooklyn 17
Changsha 17
Falls Church 17
Nijmegen 17
Rimini 16
Falkenstein 15
Kuban 15
Saint Petersburg 15
Thái Nguyên 15
Can Tho 14
Hải Dương 14
Pune 14
Shenyang 14
Toronto 14
Zhengzhou 14
Bari 13
Biên Hòa 13
Des Moines 13
Jacksonville 13
Totale 10.755
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Nome #
'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
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
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
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
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
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 245
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 240
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
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 229
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant 222
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 220
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
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
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 209
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 209
Epilepsy with auditory features: Contribution of known genes in 112 patients 209
Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models 208
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 206
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 205
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
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 200
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 198
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
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma 193
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
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 187
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations 185
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing 185
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 182
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 173
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 169
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 168
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 166
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 164
Incomplete penetrance in mitochondrial optic neuropathies 157
Multi-system neurological disease is common in patients with OPA1 mutations. 155
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? 153
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil 153
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions 152
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 151
Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1 151
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 149
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 148
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 147
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs 143
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 142
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 137
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus 137
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III 137
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 136
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 136
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency 132
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 131
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy 127
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 126
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 126
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica) 124
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts 124
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1 123
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 118
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 117
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 115
Novel mutations in DNA2 associated with myopathy and mtDNA instability 112
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 110
null 109
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients 108
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy 107
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 107
The origin of modern North Africans as depicted by a massive survey of mitogenomes 105
The relevance of migraine in the clinical spectrum of mitochondrial disorders 104
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. 104
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype 101
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 100
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis 98
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy 98
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies 92
Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstruction 90
Choroidal vascularity index in hereditary optic neuropathies 79
null 78
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy 78
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion 78
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants 76
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights 75
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study 75
Totale 17.219
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Categoria #
all - tutte 49.178
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 49.178
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.467 0 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
2025/20266.945 601 711 679 571 748 353 655 299 1.256 433 384 255
2026/2027385 186 199 0 0 0 0 0 0 0 0 0 0
Totale 17.576