CRIS Current Research Information System

VALENTINO, MARIA LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 6.758
AS - Asia 5.619
EU - Europa 4.238
SA - Sud America 315
AF - Africa 303
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 5
Totale 17.246
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Nazione #
US - Stati Uniti d'America 6.660
VN - Vietnam 1.469
SG - Singapore 1.467
CN - Cina 1.445
GB - Regno Unito 1.061
IT - Italia 888
DE - Germania 530
SE - Svezia 431
HK - Hong Kong 367
FR - Francia 266
IN - India 254
RU - Federazione Russa 243
BR - Brasile 211
UA - Ucraina 174
KR - Corea 144
IE - Irlanda 132
BD - Bangladesh 118
CI - Costa d'Avorio 100
NL - Olanda 100
JP - Giappone 96
ZA - Sudafrica 94
EE - Estonia 75
FI - Finlandia 66
CA - Canada 58
CH - Svizzera 57
TG - Togo 56
AR - Argentina 40
BG - Bulgaria 37
JO - Giordania 37
AT - Austria 35
ID - Indonesia 34
PH - Filippine 33
PL - Polonia 27
ES - Italia 26
SC - Seychelles 23
TR - Turchia 22
BE - Belgio 21
MX - Messico 21
TH - Thailandia 18
CL - Cile 16
EC - Ecuador 16
TW - Taiwan 16
SA - Arabia Saudita 12
UZ - Uzbekistan 12
IQ - Iraq 11
LB - Libano 11
RO - Romania 11
GR - Grecia 10
VE - Venezuela 9
IR - Iran 8
MY - Malesia 8
PK - Pakistan 8
PY - Paraguay 8
PT - Portogallo 7
DZ - Algeria 6
LT - Lituania 6
PE - Perù 6
CO - Colombia 5
MA - Marocco 5
NZ - Nuova Zelanda 5
DK - Danimarca 4
HR - Croazia 4
KE - Kenya 4
KZ - Kazakistan 4
PS - Palestinian Territory 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AE - Emirati Arabi Uniti 3
AL - Albania 3
AU - Australia 3
AZ - Azerbaigian 3
CR - Costa Rica 3
CZ - Repubblica Ceca 3
JM - Giamaica 3
NG - Nigeria 3
RS - Serbia 3
BA - Bosnia-Erzegovina 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
HN - Honduras 2
IL - Israele 2
KG - Kirghizistan 2
KH - Cambogia 2
LK - Sri Lanka 2
MC - Monaco 2
MT - Malta 2
MU - Mauritius 2
NI - Nicaragua 2
NO - Norvegia 2
OM - Oman 2
PA - Panama 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
AW - Aruba 1
BH - Bahrain 1
Totale 17.229
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Città #
Singapore 968
Southend 934
Fairfield 752
Ashburn 691
Chandler 433
Woodbridge 353
Hong Kong 344
Houston 336
San Jose 336
Wilmington 320
Ho Chi Minh City 319
Hefei 308
Seattle 307
Hanoi 255
Ann Arbor 240
Cambridge 220
Dong Ket 220
Bologna 199
Princeton 195
Beijing 164
Santa Clara 157
Dublin 131
Seoul 131
Boardman 127
Council Bluffs 114
Lauterbourg 110
Los Angeles 109
New York 105
Abidjan 100
Jacksonville 100
Nanjing 99
Turin 93
Dallas 89
Westminster 82
Padova 79
Tokyo 79
Redmond 72
Berlin 67
Lomé 56
Milan 52
San Diego 50
Buffalo 49
Jinan 48
Helsinki 43
Bern 40
Redondo Beach 38
Amman 37
Sofia 37
Saint Petersburg 36
Changsha 35
Haiphong 34
Shanghai 34
Guangzhou 31
Hebei 31
São Paulo 30
Bengaluru 27
Da Nang 27
Jakarta 27
Phoenix 27
Falls Church 25
Frankfurt am Main 25
Tianjin 25
Nanchang 24
Shenyang 24
Florence 23
Nuremberg 23
London 22
Brussels 21
Mülheim 21
Chicago 20
Rome 20
Zhengzhou 20
Boydton 19
Hải Dương 19
Munich 19
Hangzhou 18
Norwalk 18
San Francisco 18
Johannesburg 17
Montreal 17
Olalla 17
Parma 17
Toronto 17
Warsaw 17
Bari 16
Biên Hòa 16
Nijmegen 16
Thái Nguyên 16
Vienna 16
Atlanta 15
Can Tho 14
Dearborn 14
Redwood City 14
Ancona 13
Des Moines 13
Mahé 13
Shenzhen 13
Washington 13
Kuban 12
Naples 12
Totale 11.259
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Nome #
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 274
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 266
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
Brain diffusion-weighted imaging in Friedreich's ataxia. 248
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 245
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 243
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 241
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 226
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 215
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 211
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 211
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 209
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation 209
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 205
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 205
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
Genetic Basis of Mitochondrial Optic Neuropathies. 200
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 199
An inflammatory myopathy unmasks a case of leprosy in an Italian patient 198
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 198
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 198
Idebenone treatment in Leber's hereditary optic neuropathy. 196
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 192
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 190
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
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 185
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 185
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 185
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. 183
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 181
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. 178
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. 176
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. 175
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 175
Searching for migraine genes: Exclusion of 290 cM out of the whole human genome 172
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 169
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 168
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 168
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 167
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 165
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 163
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 163
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy 159
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 158
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. 156
Incomplete penetrance in mitochondrial optic neuropathies 155
Infusion of platelets transiently reduces nucleoside overload in MNGIE 155
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 154
Multi-system neurological disease is common in patients with OPA1 mutations. 150
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 149
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA 149
A Novel Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy 147
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 146
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. 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
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE 143
OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 141
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 139
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 139
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. 139
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. 138
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy 137
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. 137
Leber's Hereditary Optic Neuropathy with childhood onset. 137
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 136
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 136
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 135
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 135
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 131
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. 131
Visual system involvement in patients with Friedreich's ataxia 128
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy 127
Evidence for a novel x-linked modifier locus for leber hereditary 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
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 124
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 123
Redefining phenotypes associated with mitochondrial DNA single deletion 123
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 119
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 118
Expanding and validating the biomarkers for mitochondrial diseases 118
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 117
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes 116
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy 116
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 116
Thymidine phosphorylase mutations cause instability of mitochondrial DNA 114
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 114
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 113
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 112
Novel mutations in DNA2 associated with myopathy and mtDNA instability 112
Myoclonus in mitochondrial disorders 111
Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy 109
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 108
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches 107
The relevance of migraine in the clinical spectrum of mitochondrial disorders 103
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy 103
Totale 16.214
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Categoria #
all - tutte 48.231
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 48.231
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021477 0 0 0 0 0 0 0 0 0 0 0 477
2021/20221.942 179 57 138 91 148 74 88 182 106 167 409 303
2022/20232.022 216 289 116 232 139 161 76 125 311 38 194 125
2023/2024580 30 88 40 32 41 155 41 33 14 42 34 30
2024/20252.208 78 308 158 183 280 127 142 65 40 115 123 589
2025/20265.637 479 545 578 455 624 315 559 164 1.025 409 286 198
Totale 17.584