CAPORALI, LEONARDO
 Distribuzione geografica
Continente #
NA - Nord America 2519
EU - Europa 1560
AS - Asia 548
AF - Africa 97
SA - Sud America 12
OC - Oceania 7
Totale 4743
Nazione #
US - Stati Uniti d'America 2509
GB - Regno Unito 512
IT - Italia 383
CN - Cina 224
SE - Svezia 194
VN - Vietnam 181
DE - Germania 169
IN - India 119
RU - Federazione Russa 70
FR - Francia 66
UA - Ucraina 65
TG - Togo 49
EE - Estonia 38
ZA - Sudafrica 38
BE - Belgio 11
CA - Canada 10
SC - Seychelles 8
AU - Australia 7
GR - Grecia 7
BG - Bulgaria 6
BR - Brasile 6
HR - Croazia 6
CH - Svizzera 5
CL - Cile 5
IR - Iran 5
TR - Turchia 5
AT - Austria 4
JP - Giappone 4
PL - Polonia 4
RO - Romania 4
DK - Danimarca 3
FI - Finlandia 3
NL - Olanda 3
ES - Italia 2
MY - Malesia 2
PT - Portogallo 2
SN - Senegal 2
HK - Hong Kong 1
HU - Ungheria 1
IE - Irlanda 1
IL - Israele 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
MD - Moldavia 1
PE - Perù 1
SG - Singapore 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 4743
Città #
Southend 481
Fairfield 449
Woodbridge 204
Wilmington 190
Ashburn 184
Ann Arbor 182
Houston 168
Seattle 159
Chandler 158
Bologna 147
Princeton 126
Cambridge 124
Dong Ket 97
Redmond 94
Lomé 49
Nanjing 46
Westminster 46
Padova 37
Berlin 34
Redwood City 31
Frankfurt am Main 25
Jinan 24
San Diego 24
Warrington 21
Beijing 18
Falls Church 17
Nanchang 16
Kuban 15
Saint Petersburg 15
Changsha 13
Tianjin 13
Ancona 12
Des Moines 12
Hebei 12
Jacksonville 12
Brussels 11
Phoenix 11
Shenyang 11
Zhengzhou 10
Milan 9
Dearborn 8
Medford 8
Taizhou 7
Jiaxing 6
Sant Angelo 6
Sofia 6
Taiyuan 6
Toronto 6
Guangzhou 5
Hangzhou 5
Livorno 5
New York 5
Argelato 4
Brighton 4
Frankfurt Am Main 4
Fuzhou 4
Lanzhou 4
Mahé 4
Cesena 3
Haikou 3
Mersin 3
Ningbo 3
Noicattaro 3
Norwalk 3
Parma 3
San Francisco 3
São Paulo 3
Tokyo 3
Vedelago 3
Vienna 3
Buffalo 2
Carol Stream 2
Clearwater 2
Costa Mesa 2
Fremont 2
Giulianova 2
Groningen 2
Gualtieri 2
Helsinki 2
Kuala Lumpur 2
Lausanne 2
London 2
Ludwigshafen 2
Monmouth Junction 2
Munich 2
Norcia 2
North Bergen 2
Ottawa 2
Rome 2
Taglio Di Po 2
Ulan-ude 2
Verona 2
Wayne 2
Anguillara Sabazia 1
Athens 1
Atlanta 1
Bangkok 1
Bassano Del Grappa 1
Benevento 1
Boston 1
Totale 3493
Nome #
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 178
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 167
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 153
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy 149
'Behr syndrome' with OPA1 compound heterozygote mutations 133
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 133
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria 124
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 123
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 118
Genetic Basis of Mitochondrial Optic Neuropathies. 117
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 109
null 109
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. 106
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 106
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma 104
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing 103
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 100
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases 98
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 94
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 94
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 94
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 93
Incomplete penetrance in mitochondrial optic neuropathies 92
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 92
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number 91
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil 88
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations 85
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 85
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors 84
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 82
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 79
null 78
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 76
Multi-system neurological disease is common in patients with OPA1 mutations. 73
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency 72
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 72
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 72
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 72
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 71
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 68
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 67
Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1 65
Epilepsy with auditory features: Contribution of known genes in 112 patients 64
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? 63
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 61
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 59
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. 58
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 57
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 56
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 44
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 40
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus 39
Novel mutations in DNA2 associated with myopathy and mtDNA instability 38
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 34
Mitochondrial diseases in adults 26
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1 23
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy 20
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis 19
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs 18
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy 16
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 12
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III 11
Totale 4927
Categoria #
all - tutte 6416
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 6416


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018140 0000 1231 35 20789
2018/2019316 641748 643 1810 19421858
2019/20201474 17334673 151142 176210 268937969
2020/20211054 184551852 3580 1767 1695549273
2021/20221382 59468676 13163 45161 86111290228
2022/2023502 1662279118 00 00 0000
Totale 4927