CRIS Current Research Information System

LA MORGIA, CHIARA
 Distribuzione geografica
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Continente #
NA - Nord America 7.996
AS - Asia 6.390
EU - Europa 5.567
SA - Sud America 451
AF - Africa 408
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 20.828
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Nazione #
US - Stati Uniti d'America 7.890
CN - Cina 2.028
SG - Singapore 1.952
GB - Regno Unito 1.313
IT - Italia 1.248
VN - Vietnam 915
DE - Germania 724
SE - Svezia 639
HK - Hong Kong 508
RU - Federazione Russa 360
IN - India 353
BR - Brasile 330
KR - Corea 283
IE - Irlanda 219
FR - Francia 217
UA - Ucraina 165
NL - Olanda 157
CI - Costa d'Avorio 149
ZA - Sudafrica 113
FI - Finlandia 89
EE - Estonia 88
JP - Giappone 80
ID - Indonesia 71
TG - Togo 64
CH - Svizzera 63
JO - Giordania 63
AR - Argentina 57
CA - Canada 57
AT - Austria 56
BG - Bulgaria 50
SC - Seychelles 46
PL - Polonia 35
MX - Messico 33
BE - Belgio 30
ES - Italia 26
BD - Bangladesh 20
EC - Ecuador 19
GR - Grecia 18
TR - Turchia 18
CL - Cile 14
IR - Iran 11
RO - Romania 11
BY - Bielorussia 10
CO - Colombia 10
KE - Kenya 10
PY - Paraguay 10
IQ - Iraq 9
LB - Libano 9
LT - Lituania 9
MA - Marocco 9
MY - Malesia 9
AU - Australia 8
CZ - Repubblica Ceca 8
NG - Nigeria 8
TW - Taiwan 8
UZ - Uzbekistan 7
IL - Israele 6
DO - Repubblica Dominicana 5
DZ - Algeria 5
PK - Pakistan 5
PT - Portogallo 5
AE - Emirati Arabi Uniti 4
HR - Croazia 4
KZ - Kazakistan 4
PH - Filippine 4
VE - Venezuela 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AL - Albania 3
BH - Bahrain 3
DK - Danimarca 3
LK - Sri Lanka 3
LV - Lettonia 3
NZ - Nuova Zelanda 3
PA - Panama 3
PE - Perù 3
QA - Qatar 3
UY - Uruguay 3
AZ - Azerbaigian 2
CR - Costa Rica 2
GT - Guatemala 2
KH - Cambogia 2
MC - Monaco 2
MT - Malta 2
PS - Palestinian Territory 2
TH - Thailandia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BJ - Benin 1
BN - Brunei Darussalam 1
BO - Bolivia 1
GD - Grenada 1
GE - Georgia 1
HU - Ungheria 1
IS - Islanda 1
JM - Giamaica 1
KG - Kirghizistan 1
Totale 20.817
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Città #
Singapore 1.349
Southend 1.161
Fairfield 871
Ashburn 859
Hefei 605
Chandler 589
Hong Kong 503
Wilmington 374
Woodbridge 367
Bologna 357
Seattle 357
Houston 336
Princeton 299
Ann Arbor 287
Santa Clara 282
Seoul 279
Cambridge 253
Dong Ket 252
Beijing 242
Dublin 218
Boardman 198
Ho Chi Minh City 172
Dallas 163
Abidjan 149
Los Angeles 121
Nanjing 118
Redmond 116
Hanoi 109
Westminster 108
New York 107
Berlin 101
Padova 95
Jacksonville 87
Turin 83
Milan 78
Redondo Beach 73
Tokyo 72
Buffalo 66
Lomé 64
Amman 63
Bengaluru 59
Jakarta 58
Jinan 56
San Diego 55
Bern 50
Saint Petersburg 50
Sofia 49
Helsinki 47
Shanghai 47
Nuremberg 44
Frankfurt am Main 41
Parma 41
Boydton 39
Falls Church 38
Guangzhou 38
Nanchang 37
Redwood City 36
São Paulo 36
Medford 33
Rome 33
Shenyang 33
Tianjin 33
Vienna 33
Brussels 30
London 29
Hebei 28
Lappeenranta 27
Changsha 25
Chicago 25
Des Moines 25
Munich 24
Phoenix 24
Zhengzhou 24
Hangzhou 23
Yubileyny 23
Mülheim 22
Norwalk 22
Doylestown 21
Pune 21
Florence 20
Haiphong 20
Jiaxing 20
Tongling 20
Warrington 20
Olalla 18
Warsaw 18
Falkenstein 17
Kuban 17
Montreal 17
Amsterdam 16
Dearborn 16
San Francisco 16
Ancona 15
Da Nang 15
Brooklyn 14
Bühl 14
Taiyuan 14
Bari 13
Mahé 13
Modena 13
Totale 13.708
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Nome #
'Behr syndrome' with OPA1 compound heterozygote mutations 284
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 254
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 235
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 222
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 220
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 211
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 204
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 202
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 199
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 193
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 192
Genetic Basis of Mitochondrial Optic Neuropathies. 189
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 188
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 180
"Agrypnia excitata'' in a case of sporadic Creutzfeldt-Jakob disease VV2 180
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 178
Augmentation of restless legs syndrome with long-term tramadol treatment. 177
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 177
A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome. 176
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 174
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 174
Idiopathic intracranial hypertension without papilledema (IIHWOP) in chronic refractory headache 173
Idebenone treatment in Leber's hereditary optic neuropathy. 171
Stati di male convulsivi ricorrenti nell'adulto: modalità di presentazione della encefalopatia di Hashimoto? 169
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 166
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 163
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 163
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 162
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 161
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 161
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 160
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. 157
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 156
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 154
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 154
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 153
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 153
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 153
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 152
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 152
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients 150
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 150
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 149
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 149
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists 148
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 146
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 145
Mitochondrial optic neuropathies: our travels from bench to bedside and back again. 145
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 143
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) 143
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 142
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease 141
Functional MRI study in a case of Charles Bonnet syndrome related to LHON 141
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 140
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 139
Epilepsy in coeliac disease: not just a matter of calcifications. 139
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy 138
Busulfan neurotoxicity and EEG abnormalities: a case report. 137
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 137
Agrypnia Excitata 136
Leber's Hereditary optic Neuropathy 135
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 135
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 134
Clinical syndromes associated with mtDNA mutations: Where we stand after 30 years 132
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 131
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 130
Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers? 130
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 129
Leber's Hereditary Optic Neuropathy with childhood onset. 129
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 128
Incomplete penetrance in mitochondrial optic neuropathies 128
Melanopsin retinal ganglion cell loss in Alzheimer's disease 128
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study 128
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs 128
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 127
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome 124
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 123
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy 123
Extreme variability in genotype/phenotype correlation in an Italian family carrying the mtDNA A3243G/tRNALeu(UUR) MELAS mutation. 121
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 120
Sleep Quality , school performances and driving habits in adolescents 120
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 118
A neurodegenerative perspective on mitochondrial optic neuropathies 118
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy 116
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 115
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. 113
Nocturnal melatonin regulation in post-traumatic vegetative state: A possible role for melatonin supplementation? 113
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease 113
Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy 112
Double dissociation between severe CIPO, mild neurological, but severe neuroradiological findings: Presentation of 6 cases of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 111
Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber’s hereditary optic neuropathy 111
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 111
Chromatic Pupillometry Findings in Alzheimer’s Disease 111
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 110
Re: Pilat et al.: High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9) 110
Optic neuropathies: The tip of the neurodegeneration iceberg 110
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 108
Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs 108
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 107
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families. 107
Totale 14.905
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Categoria #
all - tutte 62.592
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 62.592
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.213 0 0 0 0 0 122 48 136 159 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
2025/20264.939 881 1.149 968 789 1.096 56 0 0 0 0 0 0
Totale 21.406