CRIS Current Research Information System

VALENTINO, MARIA LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 6.390
AS - Asia 5.507
EU - Europa 4.151
SA - Sud America 312
AF - Africa 303
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 5
Totale 16.674
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Nazione #
US - Stati Uniti d'America 6.318
VN - Vietnam 1.469
SG - Singapore 1.459
CN - Cina 1.435
GB - Regno Unito 1.061
IT - Italia 810
DE - Germania 530
SE - Svezia 430
HK - Hong Kong 365
FR - Francia 264
IN - India 253
RU - Federazione Russa 242
BR - Brasile 208
UA - Ucraina 174
KR - Corea 144
IE - Irlanda 132
CI - Costa d'Avorio 100
NL - Olanda 99
JP - Giappone 96
ZA - Sudafrica 94
EE - Estonia 75
FI - Finlandia 66
CH - Svizzera 56
TG - Togo 56
CA - Canada 43
AR - Argentina 40
BG - Bulgaria 37
JO - Giordania 37
AT - Austria 35
ID - Indonesia 34
PH - Filippine 33
BD - Bangladesh 27
PL - Polonia 27
ES - Italia 26
SC - Seychelles 23
TR - Turchia 22
BE - Belgio 21
MX - Messico 19
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
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
CZ - Repubblica Ceca 3
NG - Nigeria 3
NZ - Nuova Zelanda 3
RS - Serbia 3
BA - Bosnia-Erzegovina 2
BY - Bielorussia 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
IL - Israele 2
KG - Kirghizistan 2
KH - Cambogia 2
LK - Sri Lanka 2
MC - Monaco 2
MT - Malta 2
MU - Mauritius 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
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CG - Congo 1
HN - Honduras 1
HU - Ungheria 1
Totale 16.663
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Città #
Singapore 961
Southend 934
Fairfield 752
Ashburn 658
Chandler 433
Woodbridge 353
Hong Kong 343
Houston 335
Wilmington 320
Ho Chi Minh City 319
Hefei 308
Seattle 306
San Jose 273
Hanoi 255
Ann Arbor 240
Cambridge 220
Dong Ket 220
Princeton 195
Bologna 192
Beijing 157
Santa Clara 148
Dublin 131
Seoul 131
Boardman 117
Lauterbourg 110
Abidjan 100
Nanjing 99
Jacksonville 96
Los Angeles 94
Turin 93
New York 90
Westminster 82
Dallas 81
Padova 79
Tokyo 79
Council Bluffs 77
Redmond 72
Berlin 67
Lomé 56
San Diego 50
Jinan 48
Milan 46
Helsinki 43
Bern 40
Buffalo 39
Redondo Beach 38
Amman 37
Sofia 37
Saint Petersburg 36
Changsha 35
Haiphong 34
Shanghai 33
Guangzhou 31
Hebei 31
Bengaluru 27
Da Nang 27
Jakarta 27
São Paulo 27
Falls Church 25
Frankfurt am Main 25
Tianjin 25
Nanchang 24
Shenyang 24
Nuremberg 23
Phoenix 23
London 22
Brussels 21
Mülheim 21
Zhengzhou 20
Boydton 19
Hải Dương 19
Munich 19
Florence 18
Hangzhou 18
Chicago 17
Johannesburg 17
Norwalk 17
Olalla 17
Parma 17
Warsaw 17
Biên Hòa 16
Nijmegen 16
Thái Nguyên 16
Vienna 16
Toronto 15
Can Tho 14
Dearborn 14
Redwood City 14
Rome 14
Ancona 13
Atlanta 13
Des Moines 13
Mahé 13
San Francisco 13
Shenzhen 13
Kuban 12
Montreal 12
Taiyuan 12
Washington 12
Bắc Ninh 11
Totale 10.982
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Nome #
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 267
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 260
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 246
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 244
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 242
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 241
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 233
Brain diffusion-weighted imaging in Friedreich's ataxia. 229
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 223
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 213
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 208
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 207
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation 206
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 201
Genetic Basis of Mitochondrial Optic Neuropathies. 199
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 199
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 196
An inflammatory myopathy unmasks a case of leprosy in an Italian patient 194
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 194
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 193
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 192
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) 189
Idebenone treatment in Leber's hereditary optic neuropathy. 188
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 186
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 186
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 186
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 186
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 185
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 181
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 181
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. 180
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. 177
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 177
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. 175
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. 172
Searching for migraine genes: Exclusion of 290 cM out of the whole human genome 170
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 168
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 167
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 165
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 165
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 162
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 161
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 160
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 159
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 158
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy 157
Infusion of platelets transiently reduces nucleoside overload in MNGIE 153
Incomplete penetrance in mitochondrial optic neuropathies 152
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. 150
Multi-system neurological disease is common in patients with OPA1 mutations. 149
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 148
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 145
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 144
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 144
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 144
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. 144
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE 143
OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 140
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 139
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. 136
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 134
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. 134
Leber's Hereditary Optic Neuropathy with childhood onset. 134
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 133
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 132
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. 132
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 131
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 128
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 128
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. 127
Visual system involvement in patients with Friedreich's ataxia 126
A Novel Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy 125
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 124
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. 124
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy 123
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 122
Redefining phenotypes associated with mitochondrial DNA single deletion 122
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 119
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 118
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 118
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 118
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 117
Expanding and validating the biomarkers for mitochondrial diseases 117
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 117
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 114
Thymidine phosphorylase mutations cause instability of mitochondrial DNA 113
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 113
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes 112
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 111
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 110
Myoclonus in mitochondrial disorders 110
Novel mutations in DNA2 associated with myopathy and mtDNA instability 110
Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy 108
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches 107
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 107
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy 102
The relevance of migraine in the clinical spectrum of mitochondrial disorders 102
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy 101
Totale 15.800
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Categoria #
all - tutte 45.389
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 45.389
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021628 0 0 0 0 0 0 0 0 0 83 68 477
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
2025/20265.065 479 545 578 455 624 315 559 164 1.025 321 0 0
Totale 17.012