CRIS Current Research Information System

VALENTINO, MARIA LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 6.891
AS - Asia 5.660
EU - Europa 4.275
Continente sconosciuto - Info sul continente non disponibili 343
SA - Sud America 325
AF - Africa 305
OC - Oceania 8
Totale 17.807
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Nazione #
US - Stati Uniti d'America 6.774
SG - Singapore 1.480
VN - Vietnam 1.474
CN - Cina 1.447
GB - Regno Unito 1.061
IT - Italia 909
DE - Germania 530
SE - Svezia 439
HK - Hong Kong 372
FR - Francia 266
IN - India 254
RU - Federazione Russa 244
BR - Brasile 219
UA - Ucraina 174
KR - Corea 144
BD - Bangladesh 133
IE - Irlanda 132
NL - Olanda 103
CI - Costa d'Avorio 100
JP - Giappone 97
ZA - Sudafrica 94
EE - Estonia 75
CA - Canada 66
FI - Finlandia 66
CH - Svizzera 58
TG - Togo 56
AR - Argentina 41
BG - Bulgaria 37
JO - Giordania 37
AT - Austria 35
ID - Indonesia 34
PH - Filippine 33
PL - Polonia 28
ES - Italia 26
SC - Seychelles 25
MX - Messico 22
TR - Turchia 22
BE - Belgio 21
TH - Thailandia 18
CL - Cile 16
EC - Ecuador 16
TW - Taiwan 16
RO - Romania 12
SA - Arabia Saudita 12
UZ - Uzbekistan 12
IQ - Iraq 11
LB - Libano 11
GR - Grecia 10
VE - Venezuela 9
IR - Iran 8
MY - Malesia 8
PK - Pakistan 8
PY - Paraguay 8
PE - Perù 7
PT - Portogallo 7
DZ - Algeria 6
LT - Lituania 6
CO - Colombia 5
CR - Costa Rica 5
MA - Marocco 5
NZ - Nuova Zelanda 5
DK - Danimarca 4
HR - Croazia 4
JM - Giamaica 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
BA - Bosnia-Erzegovina 3
CZ - Repubblica Ceca 3
HN - Honduras 3
NG - Nigeria 3
PR - Porto Rico 3
RS - Serbia 3
BY - Bielorussia 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
IL - Israele 2
KG - Kirghizistan 2
KH - Cambogia 2
LC - Santa Lucia 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
Totale 17.449
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Città #
Singapore 978
Southend 934
Fairfield 752
Ashburn 695
Chandler 433
Woodbridge 353
Hong Kong 347
Houston 339
San Jose 337
Ho Chi Minh City 321
Wilmington 321
Hefei 308
Seattle 308
Hanoi 257
Ann Arbor 240
Cambridge 220
Dong Ket 220
Bologna 199
Princeton 195
Beijing 165
Santa Clara 165
Dublin 131
Seoul 131
Boardman 127
Council Bluffs 119
Los Angeles 111
Lauterbourg 110
New York 107
Jacksonville 101
Abidjan 100
Nanjing 99
Turin 93
Dallas 89
Westminster 82
Tokyo 80
Padova 79
Redmond 73
Berlin 67
Lomé 56
Milan 53
San Diego 51
Buffalo 50
Jinan 48
Helsinki 43
Bern 40
Redondo Beach 38
Amman 37
Sofia 37
Saint Petersburg 36
Changsha 35
Shanghai 35
Haiphong 34
Guangzhou 31
Hebei 31
Phoenix 30
São Paulo 30
Bengaluru 27
Da Nang 27
Jakarta 27
Falls Church 25
Frankfurt am Main 25
Tianjin 25
Nanchang 24
Shenyang 24
Florence 23
London 23
Nuremberg 23
Chicago 22
Brussels 21
Mülheim 21
Boydton 20
Rome 20
Zhengzhou 20
Hải Dương 19
Munich 19
San Francisco 19
Hangzhou 18
Norwalk 18
Johannesburg 17
Montreal 17
Olalla 17
Parma 17
Toronto 17
Warsaw 17
Atlanta 16
Bari 16
Biên Hòa 16
Nijmegen 16
Thái Nguyên 16
Vienna 16
Dearborn 15
Can Tho 14
Redwood City 14
Ancona 13
Des Moines 13
Mahé 13
Naples 13
Shenzhen 13
Washington 13
Kuban 12
Totale 11.322
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Nome #
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 275
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 270
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 258
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 252
Brain diffusion-weighted imaging in Friedreich's ataxia. 249
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 248
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 244
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 242
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 230
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 219
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 218
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 212
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation 211
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) 210
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 210
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 209
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 206
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 201
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 200
Genetic Basis of Mitochondrial Optic Neuropathies. 200
An inflammatory myopathy unmasks a case of leprosy in an Italian patient 199
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 198
Idebenone treatment in Leber's hereditary optic neuropathy. 196
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 196
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 191
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 191
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 189
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 186
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 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. 182
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. 181
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. 177
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. 176
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 176
Searching for migraine genes: Exclusion of 290 cM out of the whole human genome 173
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 172
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 169
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 169
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 169
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 166
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 166
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 164
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy 160
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 159
Infusion of platelets transiently reduces nucleoside overload in MNGIE 158
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. 157
Incomplete penetrance in mitochondrial optic neuropathies 156
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 155
Multi-system neurological disease is common in patients with OPA1 mutations. 153
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 151
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 151
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 148
A Novel Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy 148
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 147
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. 147
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 146
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE 143
OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 143
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. 142
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 141
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 141
Leber's Hereditary Optic Neuropathy with childhood onset. 139
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy 138
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. 138
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 137
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 137
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. 137
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 136
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 135
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. 132
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 131
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. 129
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy 128
Visual system involvement in patients with Friedreich's ataxia 128
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 128
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 126
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 125
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 125
Redefining phenotypes associated with mitochondrial DNA single deletion 125
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 121
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 121
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy 119
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 118
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes 116
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 116
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 116
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 115
Thymidine phosphorylase mutations cause instability of mitochondrial DNA 115
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 112
Myoclonus in mitochondrial disorders 112
Novel mutations in DNA2 associated with myopathy and mtDNA instability 112
Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy 110
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches 109
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 108
The relevance of migraine in the clinical spectrum of mitochondrial disorders 103
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort 103
Totale 16.374
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Categoria #
all - tutte 49.947
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 49.947
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.763 0 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
2025/20265.669 479 545 578 455 624 315 559 164 1.025 409 286 230
2026/2027191 135 56 0 0 0 0 0 0 0 0 0 0
Totale 17.807