CRIS Current Research Information System

VALENTINO, MARIA LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.832
AS - Asia 4.295
EU - Europa 3.905
AF - Africa 281
SA - Sud America 266
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 5
Totale 14.590
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Nazione #
US - Stati Uniti d'America 5.779
SG - Singapore 1.313
CN - Cina 1.229
GB - Regno Unito 1.048
VN - Vietnam 861
IT - Italia 764
DE - Germania 517
SE - Svezia 429
HK - Hong Kong 329
RU - Federazione Russa 242
IN - India 228
BR - Brasile 181
UA - Ucraina 168
FR - Francia 150
KR - Corea 133
IE - Irlanda 131
CI - Costa d'Avorio 100
NL - Olanda 91
ZA - Sudafrica 86
EE - Estonia 74
JP - Giappone 60
TG - Togo 56
FI - Finlandia 55
CH - Svizzera 52
BG - Bulgaria 37
JO - Giordania 36
AR - Argentina 35
AT - Austria 34
CA - Canada 34
ID - Indonesia 31
SC - Seychelles 23
PL - Polonia 22
BE - Belgio 19
ES - Italia 18
EC - Ecuador 16
TR - Turchia 14
BD - Bangladesh 13
CL - Cile 12
MX - Messico 11
GR - Grecia 10
RO - Romania 10
LB - Libano 9
IR - Iran 8
PT - Portogallo 7
PY - Paraguay 7
PE - Perù 6
UZ - Uzbekistan 5
DZ - Algeria 4
LT - Lituania 4
MY - Malesia 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AE - Emirati Arabi Uniti 3
AU - Australia 3
CO - Colombia 3
CZ - Repubblica Ceca 3
DK - Danimarca 3
HR - Croazia 3
KZ - Kazakistan 3
MA - Marocco 3
NG - Nigeria 3
NZ - Nuova Zelanda 3
VE - Venezuela 3
AZ - Azerbaigian 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
EG - Egitto 2
IL - Israele 2
IQ - Iraq 2
KH - Cambogia 2
LK - Sri Lanka 2
MC - Monaco 2
MT - Malta 2
PA - Panama 2
PS - Palestinian Territory 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AL - Albania 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
CG - Congo 1
CR - Costa Rica 1
HN - Honduras 1
HU - Ungheria 1
IS - Islanda 1
KE - Kenya 1
LV - Lettonia 1
OM - Oman 1
PH - Filippine 1
PK - Pakistan 1
RE - Reunion 1
RS - Serbia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
Totale 14.590
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Città #
Southend 934
Singapore 830
Fairfield 752
Ashburn 608
Chandler 433
Woodbridge 353
Houston 334
Hong Kong 326
Wilmington 320
Hefei 307
Seattle 306
Ann Arbor 240
Dong Ket 220
Cambridge 218
Princeton 195
Bologna 188
Ho Chi Minh City 152
Beijing 150
Santa Clara 141
Dublin 131
Seoul 129
Hanoi 124
Boardman 117
Abidjan 100
Jacksonville 96
Nanjing 94
Turin 92
New York 83
Westminster 82
Los Angeles 81
Dallas 79
Padova 79
Redmond 72
Berlin 67
Lomé 56
Tokyo 54
San Diego 50
Jinan 47
Milan 44
Bern 40
Redondo Beach 38
Buffalo 37
Sofia 37
Amman 36
Saint Petersburg 36
Changsha 32
Helsinki 32
Hebei 31
Bengaluru 27
Jakarta 27
Shanghai 26
Falls Church 25
Guangzhou 24
Nanchang 24
Shenyang 24
São Paulo 23
Mülheim 21
Nuremberg 21
Phoenix 21
Tianjin 21
Boydton 19
Brussels 19
Munich 19
Zhengzhou 19
London 18
Norwalk 17
Olalla 17
Parma 17
Florence 16
Frankfurt am Main 16
Hangzhou 16
Nijmegen 16
Vienna 16
Chicago 15
Dearborn 14
Redwood City 14
Ancona 13
Hải Dương 13
Mahé 13
San Francisco 13
Toronto 13
Warsaw 13
Des Moines 12
Kuban 12
Rome 12
Lappeenranta 11
Medford 11
Pune 11
Taiyuan 11
Tongling 11
Turku 11
Verona 11
Washington 11
Yubileyny 11
Falkenstein 10
Jiaxing 10
Atlanta 9
Haiphong 9
Johannesburg 9
Ningbo 9
Totale 9.824
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Nome #
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 236
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 232
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 227
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 223
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 216
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 207
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 204
Brain diffusion-weighted imaging in Friedreich's ataxia. 204
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 201
Genetic Basis of Mitochondrial Optic Neuropathies. 191
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 190
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 185
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 183
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 179
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 179
An inflammatory myopathy unmasks a case of leprosy in an Italian patient 179
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation 176
Idebenone treatment in Leber's hereditary optic neuropathy. 172
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 172
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 170
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 168
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. 168
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 167
Searching for migraine genes: Exclusion of 290 cM out of the whole human genome 165
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 164
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. 164
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 164
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. 163
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 162
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 160
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. 159
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 157
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 156
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 155
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 155
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 155
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 153
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 152
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy 150
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 150
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 149
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 147
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) 146
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 146
Infusion of platelets transiently reduces nucleoside overload in MNGIE 145
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 144
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 142
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 139
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 138
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 137
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 136
Incomplete penetrance in mitochondrial optic neuropathies 133
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 132
Multi-system neurological disease is common in patients with OPA1 mutations. 132
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. 131
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. 130
Leber's Hereditary Optic Neuropathy with childhood onset. 130
OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 129
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 128
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE 128
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 124
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 124
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. 124
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 123
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. 123
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. 121
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 120
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. 117
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 116
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. 115
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 112
A Novel Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy 111
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 109
Redefining phenotypes associated with mitochondrial DNA single deletion 109
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 108
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 108
Visual system involvement in patients with Friedreich's ataxia 108
Thymidine phosphorylase mutations cause instability of mitochondrial DNA 106
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy 106
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 105
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 105
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 104
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 104
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 104
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 103
Expanding and validating the biomarkers for mitochondrial diseases 103
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches 102
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes 100
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 100
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy 99
Myoclonus in mitochondrial disorders 99
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 97
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 96
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 96
The relevance of migraine in the clinical spectrum of mitochondrial disorders 91
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy 88
Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy 88
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 88
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 85
Hearing dysfunction in a large family affected by dominant optic atrophy (OPA8-related DOA): A human model of hidden auditory neuropathy 84
Totale 14.080
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Categoria #
all - tutte 41.919
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 41.919
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021991 0 0 0 0 0 93 38 121 111 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
2025/20262.961 479 545 578 455 624 280 0 0 0 0 0 0
Totale 14.908