CRIS Current Research Information System

VALENTINO, MARIA LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.231
EU - Europa 3.406
AS - Asia 1.735
AF - Africa 195
SA - Sud America 12
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10.588
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Nazione #
US - Stati Uniti d'America 5.208
GB - Regno Unito 1.019
IT - Italia 623
CN - Cina 612
DE - Germania 459
SE - Svezia 425
VN - Vietnam 424
SG - Singapore 381
IN - India 190
RU - Federazione Russa 165
UA - Ucraina 165
IE - Irlanda 127
FR - Francia 124
EE - Estonia 74
ZA - Sudafrica 70
TG - Togo 56
CH - Svizzera 52
CI - Costa d'Avorio 50
BG - Bulgaria 37
JO - Giordania 35
FI - Finlandia 27
NL - Olanda 26
HK - Hong Kong 24
ID - Indonesia 22
CA - Canada 20
BE - Belgio 16
SC - Seychelles 16
JP - Giappone 13
AT - Austria 12
RO - Romania 10
GR - Grecia 9
CL - Cile 8
LB - Libano 8
TR - Turchia 8
PL - Polonia 7
ES - Italia 6
IR - Iran 5
PT - Portogallo 5
UZ - Uzbekistan 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AU - Australia 3
BR - Brasile 3
CZ - Repubblica Ceca 3
HR - Croazia 3
NZ - Nuova Zelanda 3
DK - Danimarca 2
KR - Corea 2
MC - Monaco 2
MT - Malta 2
MY - Malesia 2
NG - Nigeria 2
BN - Brunei Darussalam 1
CR - Costa Rica 1
EG - Egitto 1
HU - Ungheria 1
IL - Israele 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
MX - Messico 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
RS - Serbia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 10.588
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Città #
Southend 934
Fairfield 752
Chandler 433
Ashburn 424
Woodbridge 353
Singapore 332
Houston 329
Wilmington 319
Seattle 303
Ann Arbor 240
Dong Ket 220
Cambridge 218
Princeton 195
Bologna 138
Santa Clara 136
Dublin 127
Boardman 115
Jacksonville 96
Nanjing 93
Turin 91
Westminster 82
Padova 79
Redmond 72
Berlin 67
New York 66
Lomé 56
Abidjan 50
San Diego 50
Jinan 47
Bern 40
Sofia 37
Saint Petersburg 36
Amman 35
Hebei 31
Changsha 29
Milan 29
Beijing 27
Falls Church 25
Shanghai 25
Nanchang 24
Shenyang 23
Guangzhou 22
Jakarta 22
Hong Kong 21
Mülheim 21
Helsinki 20
Los Angeles 20
Tianjin 19
Phoenix 18
Boydton 17
Norwalk 17
Olalla 17
Brussels 16
Florence 16
Hangzhou 16
Nijmegen 16
Zhengzhou 16
Dearborn 14
Redwood City 14
Ancona 13
Mahé 13
Des Moines 12
Kuban 12
London 11
Medford 11
Taiyuan 11
Toronto 11
Verona 11
Jiaxing 10
Pune 10
Washington 10
Ningbo 9
San Francisco 9
Sant Angelo 9
Tokyo 9
Bühl 8
Haikou 8
Mountain View 8
Bari 7
Fuzhou 7
Paris 7
Rome 7
Shenzhen 7
Bremen 6
Elora 6
Frankfurt am Main 6
Lappeenranta 6
Reggio Emilia 6
Taizhou 6
North Bergen 5
Parma 5
Ponte San Pietro 5
Qingdao 5
Wuhan 5
Atlanta 4
Braunschweig 4
Costa Mesa 4
Den Haag 4
Doylestown 4
Falkenstein 4
Totale 7.415
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Nome #
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 203
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. 201
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 201
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 183
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 179
Brain diffusion-weighted imaging in Friedreich's ataxia. 172
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 170
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 164
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 163
An inflammatory myopathy unmasks a case of leprosy in an Italian patient 159
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. 158
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 154
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 150
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. 148
Genetic Basis of Mitochondrial Optic Neuropathies. 146
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 146
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 142
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. 142
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 139
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 137
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 136
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation 136
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 134
Idebenone treatment in Leber's hereditary optic neuropathy. 134
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 133
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 131
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. 130
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. 130
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. 127
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 126
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 123
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 121
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 121
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 120
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 119
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 118
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 116
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy 114
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE 114
Incomplete penetrance in mitochondrial optic neuropathies 114
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 114
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 114
Leber's Hereditary Optic Neuropathy with childhood onset. 114
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 110
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. 109
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 108
OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 108
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. 107
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 106
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 105
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 105
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. 105
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 105
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 105
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 104
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. 101
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 100
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. 99
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 98
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. 98
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 93
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 91
A Novel Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy 91
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 91
Multi-system neurological disease is common in patients with OPA1 mutations. 91
Visual system involvement in patients with Friedreich's ataxia 89
Redefining phenotypes associated with mitochondrial DNA single deletion 89
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy 88
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 87
Thymidine phosphorylase mutations cause instability of mitochondrial DNA 87
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. 87
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 87
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 85
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 83
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches 83
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies 82
Myoclonus in mitochondrial disorders 81
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 81
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. 81
null 78
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy 76
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 76
Expanding and validating the biomarkers for mitochondrial diseases 75
Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy 71
Infusion of platelets transiently reduces nucleoside overload in MNGIE 71
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 68
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 66
Leber’s hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point mutation. 63
Hearing dysfunction in a large family affected by dominant optic atrophy (OPA8-related DOA): A human model of hidden auditory neuropathy 63
Anti-cN1A antibodies are associated with more severe dysphagia in sporadic inclusion body myositis 60
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy 59
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) 58
Novel mutations in DNA2 associated with myopathy and mtDNA instability 58
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 53
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia 48
Mitochondrial diseases in adults 45
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 44
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 34
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy 32
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 28
Totale 10.742
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Categoria #
all - tutte 28.947
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 28.947
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.867 0 0 0 0 0 273 339 364 471 163 133 124
2020/20211.601 325 94 47 108 36 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
2024/20251.133 78 308 158 183 280 126 0 0 0 0 0 0
Totale 10.872