CRIS Current Research Information System

LA MORGIA, CHIARA
 Distribuzione geografica
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Continente #
NA - Nord America 9.869
AS - Asia 9.429
EU - Europa 6.310
SA - Sud America 567
AF - Africa 471
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 6
Totale 26.664
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Nazione #
US - Stati Uniti d'America 9.687
SG - Singapore 2.602
CN - Cina 2.436
VN - Vietnam 2.127
IT - Italia 1.586
GB - Regno Unito 1.345
DE - Germania 746
HK - Hong Kong 648
SE - Svezia 642
FR - Francia 423
IN - India 409
BR - Brasile 404
RU - Federazione Russa 366
KR - Corea 310
BD - Bangladesh 252
IE - Irlanda 223
NL - Olanda 176
UA - Ucraina 175
JP - Giappone 155
CI - Costa d'Avorio 151
ZA - Sudafrica 140
FI - Finlandia 123
CA - Canada 97
EE - Estonia 89
ID - Indonesia 73
CH - Svizzera 70
JO - Giordania 70
AR - Argentina 68
PH - Filippine 65
TG - Togo 64
AT - Austria 62
BG - Bulgaria 52
MX - Messico 50
SC - Seychelles 46
PL - Polonia 44
ES - Italia 43
TH - Thailandia 41
IQ - Iraq 36
TW - Taiwan 35
BE - Belgio 33
TR - Turchia 32
CL - Cile 22
EC - Ecuador 20
GR - Grecia 20
PK - Pakistan 19
CO - Colombia 17
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
JM - Giamaica 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
RS - Serbia 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
CR - Costa Rica 4
PE - Perù 4
QA - Qatar 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
MD - Moldavia 3
NP - Nepal 3
NZ - Nuova Zelanda 3
PA - Panama 3
SK - Slovacchia (Repubblica Slovacca) 3
BB - Barbados 2
EG - Egitto 2
GE - Georgia 2
GH - Ghana 2
KG - Kirghizistan 2
KH - Cambogia 2
MC - Monaco 2
MT - Malta 2
NI - Nicaragua 2
NO - Norvegia 2
Totale 26.632
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Città #
Singapore 1.779
Southend 1.161
Ashburn 1.013
Fairfield 871
San Jose 703
Hefei 612
Hong Kong 598
Chandler 589
Ho Chi Minh City 470
Hanoi 413
Bologna 409
Wilmington 374
Woodbridge 367
Seattle 359
Houston 341
Santa Clara 314
Princeton 299
Ann Arbor 287
Seoul 281
Beijing 262
Cambridge 255
Dong Ket 252
Dublin 222
Boardman 220
Lauterbourg 192
Los Angeles 192
Dallas 181
Council Bluffs 176
New York 169
Abidjan 151
Tokyo 134
Nanjing 124
Redmond 116
Westminster 108
Milan 105
Berlin 101
Padova 95
Jacksonville 92
Turin 88
Buffalo 83
Da Nang 73
Helsinki 73
Redondo Beach 73
Amman 68
Lomé 64
Bengaluru 63
Jakarta 59
Haiphong 58
Jinan 56
San Diego 56
Rome 55
Shanghai 55
Frankfurt am Main 54
São Paulo 54
Bern 50
Saint Petersburg 50
Sofia 50
Nuremberg 48
Guangzhou 45
Nanchang 42
Parma 41
Boydton 39
Falls Church 39
Tianjin 39
Chicago 37
Redwood City 36
Vienna 36
London 35
Johannesburg 34
Lappeenranta 34
Medford 34
Phoenix 34
Shenyang 34
Brussels 33
Hangzhou 32
Changsha 30
Zhengzhou 29
Hebei 28
Florence 27
Montreal 27
Warsaw 27
Des Moines 26
San Francisco 26
Biên Hòa 25
Modena 25
The Dalles 25
Amsterdam 24
Munich 24
Orem 24
Pune 24
Atlanta 23
Mülheim 23
Yubileyny 23
Bari 22
Can Tho 22
Norwalk 22
Doylestown 21
Hải Dương 21
Naples 21
Jiaxing 20
Totale 16.850
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Nome #
'Behr syndrome' with OPA1 compound heterozygote mutations 377
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 320
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 284
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 274
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 267
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 253
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 250
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 245
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 240
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 235
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 230
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 226
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 225
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 214
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 211
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 211
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 210
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 209
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome 206
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 206
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 205
A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome. 203
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 202
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Idiopathic intracranial hypertension without papilledema (IIHWOP) in chronic refractory headache 202
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) 201
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 201
Genetic Basis of Mitochondrial Optic Neuropathies. 200
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 200
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 200
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 199
Augmentation of restless legs syndrome with long-term tramadol treatment. 198
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 198
"Agrypnia excitata'' in a case of sporadic Creutzfeldt-Jakob disease VV2 196
Idebenone treatment in Leber's hereditary optic neuropathy. 196
Stati di male convulsivi ricorrenti nell'adulto: modalità di presentazione della encefalopatia di Hashimoto? 193
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 193
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 193
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 191
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 191
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 190
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 189
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease 185
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 185
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 185
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 181
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 180
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients 180
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. 179
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 175
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 175
Functional MRI study in a case of Charles Bonnet syndrome related to LHON 174
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists 174
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy 170
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 168
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 166
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 165
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 164
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy 164
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 163
Epilepsy in coeliac disease: not just a matter of calcifications. 163
Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers? 162
Mitochondrial optic neuropathies: our travels from bench to bedside and back again. 161
Melanopsin retinal ganglion cell loss in Alzheimer's disease 161
Busulfan neurotoxicity and EEG abnormalities: a case report. 159
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 158
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs 158
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations 156
Leber's Hereditary optic Neuropathy 156
Incomplete penetrance in mitochondrial optic neuropathies 155
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 154
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy 153
Extreme variability in genotype/phenotype correlation in an Italian family carrying the mtDNA A3243G/tRNALeu(UUR) MELAS mutation. 153
Agrypnia Excitata 153
Clinical syndromes associated with mtDNA mutations: Where we stand after 30 years 151
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study 151
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 149
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 146
Sleep Quality , school performances and driving habits in adolescents 145
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 145
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 145
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy 143
Double dissociation between severe CIPO, mild neurological, but severe neuroradiological findings: Presentation of 6 cases of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 140
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 139
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families. 139
Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy 138
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease 137
Leber's Hereditary Optic Neuropathy with childhood onset. 137
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 136
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 136
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 135
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 135
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset 135
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review 134
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 134
Nocturnal melatonin regulation in post-traumatic vegetative state: A possible role for melatonin supplementation? 132
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 131
Optic neuropathies: The tip of the neurodegeneration iceberg 131
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial 130
A neurodegenerative perspective on mitochondrial optic neuropathies 130
Totale 18.175
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Categoria #
all - tutte 75.684
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 75.684
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021589 0 0 0 0 0 0 0 0 0 0 0 589
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
2025/202610.828 881 1.149 968 789 1.096 574 1.108 569 1.889 745 648 412
Totale 27.295