CRIS Current Research Information System

LA MORGIA, CHIARA
 Distribuzione geografica
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Continente #
AS - Asia 9.170
NA - Nord America 9.168
EU - Europa 6.094
SA - Sud America 546
AF - Africa 471
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 5
Totale 25.466
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Nazione #
US - Stati Uniti d'America 9.028
SG - Singapore 2.581
CN - Cina 2.414
VN - Vietnam 2.125
IT - Italia 1.389
GB - Regno Unito 1.344
DE - Germania 746
SE - Svezia 641
HK - Hong Kong 640
FR - Francia 420
IN - India 408
BR - Brasile 387
RU - Federazione Russa 366
KR - Corea 310
IE - Irlanda 223
UA - Ucraina 175
NL - Olanda 174
JP - Giappone 155
CI - Costa d'Avorio 151
ZA - Sudafrica 140
FI - Finlandia 123
EE - Estonia 89
ID - Indonesia 73
CA - Canada 71
JO - Giordania 70
AR - Argentina 68
CH - Svizzera 66
PH - Filippine 65
TG - Togo 64
AT - Austria 61
BG - Bulgaria 52
BD - Bangladesh 49
SC - Seychelles 46
MX - Messico 45
PL - Polonia 44
TH - Thailandia 41
ES - Italia 40
IQ - Iraq 36
TW - Taiwan 35
BE - Belgio 33
TR - Turchia 32
CL - Cile 20
EC - Ecuador 20
GR - Grecia 20
PK - Pakistan 18
CO - Colombia 16
MA - Marocco 16
SA - Arabia Saudita 16
UZ - Uzbekistan 16
MY - Malesia 15
RO - Romania 14
KE - Kenya 13
LT - Lituania 13
VE - Venezuela 13
LB - Libano 12
PY - Paraguay 12
IR - Iran 11
BY - Bielorussia 10
AU - Australia 9
DZ - Algeria 9
CZ - Repubblica Ceca 8
ET - Etiopia 8
NG - Nigeria 8
IL - Israele 7
AL - Albania 6
PT - Portogallo 6
DO - Repubblica Dominicana 5
HR - Croazia 5
KZ - Kazakistan 5
PS - Palestinian Territory 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
CR - Costa Rica 4
JM - Giamaica 4
QA - Qatar 4
RS - Serbia 4
TN - Tunisia 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
BH - Bahrain 3
DK - Danimarca 3
GT - Guatemala 3
LK - Sri Lanka 3
LV - Lettonia 3
NP - Nepal 3
NZ - Nuova Zelanda 3
PA - Panama 3
PE - Perù 3
SK - Slovacchia (Repubblica Slovacca) 3
EG - Egitto 2
GH - Ghana 2
KG - Kirghizistan 2
KH - Cambogia 2
MC - Monaco 2
MD - Moldavia 2
MT - Malta 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AM - Armenia 1
AO - Angola 1
Totale 25.440
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Città #
Singapore 1.761
Southend 1.161
Ashburn 966
Fairfield 871
Hefei 612
Hong Kong 591
Chandler 589
San Jose 575
Ho Chi Minh City 468
Hanoi 413
Bologna 394
Wilmington 374
Woodbridge 367
Seattle 358
Houston 339
Princeton 299
Santa Clara 292
Ann Arbor 287
Seoul 281
Cambridge 255
Dong Ket 252
Beijing 249
Dublin 222
Boardman 198
Lauterbourg 192
Dallas 169
Los Angeles 167
Abidjan 151
Tokyo 134
Council Bluffs 128
Nanjing 124
New York 120
Redmond 116
Westminster 108
Berlin 101
Padova 95
Jacksonville 89
Milan 87
Turin 84
Da Nang 73
Helsinki 73
Redondo Beach 73
Buffalo 69
Amman 68
Lomé 64
Bengaluru 62
Jakarta 59
Haiphong 58
Jinan 56
San Diego 55
Shanghai 55
Frankfurt am Main 54
Bern 50
Saint Petersburg 50
Sofia 50
Nuremberg 48
Guangzhou 45
São Paulo 45
Nanchang 42
Parma 41
Rome 41
Boydton 39
Tianjin 39
Falls Church 38
Redwood City 36
Vienna 36
London 35
Johannesburg 34
Lappeenranta 34
Medford 34
Shenyang 34
Brussels 33
Changsha 30
Chicago 30
Hangzhou 30
Zhengzhou 29
Hebei 28
Warsaw 27
Des Moines 26
Phoenix 26
Biên Hòa 25
Modena 25
The Dalles 25
Florence 24
Munich 24
Pune 24
Amsterdam 23
Montreal 23
Mülheim 23
Yubileyny 23
Can Tho 22
Norwalk 22
Doylestown 21
Hải Dương 21
Jiaxing 20
Orem 20
Shenzhen 20
Tongling 20
Warrington 20
Atlanta 19
Totale 16.332
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Nome #
'Behr syndrome' with OPA1 compound heterozygote mutations 367
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 304
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 270
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 267
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 262
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
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 241
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 237
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 224
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 223
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 215
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 209
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 208
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 207
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
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 198
A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome. 198
Idiopathic intracranial hypertension without papilledema (IIHWOP) in chronic refractory headache 197
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 196
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 196
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 195
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 194
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 194
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 192
"Agrypnia excitata'' in a case of sporadic Creutzfeldt-Jakob disease VV2 192
Stati di male convulsivi ricorrenti nell'adulto: modalità di presentazione della encefalopatia di Hashimoto? 190
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 190
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
Augmentation of restless legs syndrome with long-term tramadol treatment. 189
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 189
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 189
Idebenone treatment in Leber's hereditary optic neuropathy. 188
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 187
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
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
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome 180
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 180
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease 177
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients 177
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 177
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. 176
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists 173
Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy 172
Functional MRI study in a case of Charles Bonnet syndrome related to LHON 172
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 169
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
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 165
Mitochondrial optic neuropathies: our travels from bench to bedside and back again. 161
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 161
Epilepsy in coeliac disease: not just a matter of calcifications. 160
Melanopsin retinal ganglion cell loss in Alzheimer's disease 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
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 157
Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers? 156
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs 155
Leber's Hereditary optic Neuropathy 154
Busulfan neurotoxicity and EEG abnormalities: a case report. 153
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy 152
Incomplete penetrance in mitochondrial optic neuropathies 152
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study 151
Agrypnia Excitata 150
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 148
Clinical syndromes associated with mtDNA mutations: Where we stand after 30 years 148
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 145
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy 144
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
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy 143
Extreme variability in genotype/phenotype correlation in an Italian family carrying the mtDNA A3243G/tRNALeu(UUR) MELAS mutation. 143
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations 141
Sleep Quality , school performances and driving habits in adolescents 139
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 139
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy 139
Double dissociation between severe CIPO, mild neurological, but severe neuroradiological findings: Presentation of 6 cases of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 137
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families. 136
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 134
Leber's Hereditary Optic Neuropathy with childhood onset. 134
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review 133
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 133
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 133
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 132
Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy 132
A neurodegenerative perspective on mitochondrial optic neuropathies 130
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 129
Nocturnal melatonin regulation in post-traumatic vegetative state: A possible role for melatonin supplementation? 129
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease 129
Optic neuropathies: The tip of the neurodegeneration iceberg 129
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 128
Chromatic Pupillometry Findings in Alzheimer’s Disease 127
Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs 126
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 124
Totale 17.572
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Categoria #
all - tutte 70.555
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 70.555
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021748 0 0 0 0 0 0 0 0 0 78 81 589
2021/20222.584 173 105 145 128 227 113 86 305 139 204 530 429
2022/20232.937 285 376 156 337 245 263 129 191 472 79 229 175
2023/2024984 49 155 87 72 91 197 71 63 43 72 40 44
2024/20253.926 158 579 302 312 527 195 312 148 70 258 273 792
2025/20269.626 881 1.149 968 789 1.096 574 1.108 569 1.889 603 0 0
Totale 26.093