CRIS Current Research Information System

LA MORGIA, CHIARA
 Distribuzione geografica
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Continente #
NA - Nord America 10.595
AS - Asia 9.520
EU - Europa 6.425
Continente sconosciuto - Info sul continente non disponibili 639
SA - Sud America 576
AF - Africa 472
OC - Oceania 12
Totale 28.239
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Nazione #
US - Stati Uniti d'America 10.352
SG - Singapore 2.621
CN - Cina 2.455
VN - Vietnam 2.135
IT - Italia 1.664
GB - Regno Unito 1.346
DE - Germania 746
SE - Svezia 662
HK - Hong Kong 657
FR - Francia 429
BR - Brasile 409
IN - India 409
RU - Federazione Russa 367
KR - Corea 310
BD - Bangladesh 288
IE - Irlanda 223
NL - Olanda 179
UA - Ucraina 177
JP - Giappone 155
CI - Costa d'Avorio 151
ZA - Sudafrica 140
FI - Finlandia 123
CA - Canada 119
EE - Estonia 89
ID - Indonesia 73
CH - Svizzera 72
AR - Argentina 70
JO - Giordania 70
PH - Filippine 65
TG - Togo 64
AT - Austria 62
MX - Messico 55
BG - Bulgaria 52
SC - Seychelles 47
PL - Polonia 45
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 18
MA - Marocco 16
SA - Arabia Saudita 16
UZ - Uzbekistan 16
JM - Giamaica 15
MY - Malesia 15
RO - Romania 14
KE - Kenya 13
LT - Lituania 13
VE - Venezuela 13
CR - Costa Rica 12
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
HN - Honduras 6
PT - Portogallo 6
DO - Repubblica Dominicana 5
GT - Guatemala 5
HR - Croazia 5
KZ - Kazakistan 5
NI - Nicaragua 5
PE - Perù 5
PS - Palestinian Territory 5
RS - Serbia 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
MD - Moldavia 4
QA - Qatar 4
SV - El Salvador 4
TN - Tunisia 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
BB - Barbados 3
BH - Bahrain 3
DK - Danimarca 3
LK - Sri Lanka 3
LV - Lettonia 3
NP - Nepal 3
NZ - Nuova Zelanda 3
PA - Panama 3
PR - Porto Rico 3
SK - Slovacchia (Repubblica Slovacca) 3
EG - Egitto 2
GE - Georgia 2
GH - Ghana 2
KG - Kirghizistan 2
KH - Cambogia 2
Totale 27.566
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Città #
Singapore 1.795
Southend 1.161
Ashburn 1.035
Fairfield 871
San Jose 716
Hefei 612
Hong Kong 605
Chandler 589
Ho Chi Minh City 470
Bologna 416
Hanoi 415
Wilmington 375
Woodbridge 368
Seattle 359
Houston 347
Santa Clara 334
Council Bluffs 308
Princeton 299
Ann Arbor 287
Seoul 281
Beijing 269
Cambridge 255
Dong Ket 252
Boardman 223
Dublin 222
Los Angeles 201
Lauterbourg 192
Dallas 185
New York 179
Abidjan 151
Tokyo 134
Nanjing 124
Redmond 116
Milan 111
Westminster 108
Berlin 101
Padova 95
Jacksonville 92
Turin 88
Buffalo 85
Da Nang 73
Helsinki 73
Redondo Beach 73
Amman 68
Lomé 64
Bengaluru 63
Jakarta 59
Rome 59
Haiphong 58
San Diego 57
Jinan 56
Shanghai 56
Frankfurt am Main 54
São Paulo 54
Bern 50
Saint Petersburg 50
Sofia 50
Nuremberg 48
Guangzhou 45
Nanchang 42
Parma 41
Boydton 40
Chicago 39
Falls Church 39
Tianjin 39
Phoenix 38
London 37
Redwood City 36
Vienna 36
Johannesburg 34
Lappeenranta 34
Medford 34
Shenyang 34
Brussels 33
Hangzhou 32
Changsha 30
Florence 29
Montreal 29
San Francisco 29
Zhengzhou 29
Hebei 28
Atlanta 27
Warsaw 27
Des Moines 26
Orem 26
Biên Hòa 25
Modena 25
The Dalles 25
Amsterdam 24
Munich 24
Pune 24
Bari 23
Mülheim 23
Naples 23
Yubileyny 23
Brooklyn 22
Can Tho 22
Doylestown 22
Norwalk 22
Hải Dương 21
Totale 17.152
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Nome #
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy 412
'Behr syndrome' with OPA1 compound heterozygote mutations 382
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy 332
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 291
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 276
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 276
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene 263
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 253
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 248
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 245
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 240
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant 235
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 232
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 230
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 224
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 220
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 218
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 216
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 213
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 213
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) 212
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 211
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients 210
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome 209
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 207
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 206
Idiopathic intracranial hypertension without papilledema (IIHWOP) in chronic refractory headache 206
A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome. 204
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 204
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 202
Genetic Basis of Mitochondrial Optic Neuropathies. 201
Augmentation of restless legs syndrome with long-term tramadol treatment. 201
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 201
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 200
"Agrypnia excitata'' in a case of sporadic Creutzfeldt-Jakob disease VV2 200
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 198
Idebenone treatment in Leber's hereditary optic neuropathy. 197
Stati di male convulsivi ricorrenti nell'adulto: modalità di presentazione della encefalopatia di Hashimoto? 195
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 195
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 195
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 193
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 193
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 190
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy 189
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease 187
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 185
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. 183
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients 182
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 182
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 181
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 179
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 177
Functional MRI study in a case of Charles Bonnet syndrome related to LHON 177
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists 176
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 171
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy 169
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 169
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy 168
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 166
Epilepsy in coeliac disease: not just a matter of calcifications. 166
Mitochondrial optic neuropathies: our travels from bench to bedside and back again. 165
Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers? 164
Melanopsin retinal ganglion cell loss in Alzheimer's disease 163
Busulfan neurotoxicity and EEG abnormalities: a case report. 161
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs 161
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 160
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations 158
Leber's Hereditary optic Neuropathy 157
Incomplete penetrance in mitochondrial optic neuropathies 157
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 157
Extreme variability in genotype/phenotype correlation in an Italian family carrying the mtDNA A3243G/tRNALeu(UUR) MELAS mutation. 156
Agrypnia Excitata 156
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy 155
Clinical syndromes associated with mtDNA mutations: Where we stand after 30 years 155
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study 153
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 151
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 149
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 148
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? 147
Sleep Quality , school performances and driving habits in adolescents 147
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy 144
Double dissociation between severe CIPO, mild neurological, but severe neuroradiological findings: Presentation of 6 cases of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 142
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 142
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families. 141
Leber's Hereditary Optic Neuropathy with childhood onset. 141
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease 140
Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy 139
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 138
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 138
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset 138
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review 137
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy 137
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy 136
A neurodegenerative perspective on mitochondrial optic neuropathies 136
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 136
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial 135
Nocturnal melatonin regulation in post-traumatic vegetative state: A possible role for melatonin supplementation? 135
Retinal ganglion cells and circadian rhythms in Alzheimer's disease, Parkinson's disease, and beyond 134
Optic neuropathies: The tip of the neurodegeneration iceberg 132
Totale 18.787
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Categoria #
all - tutte 79.667
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 79.667
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20222.411 0 105 145 128 227 113 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
2025/202610.864 881 1.149 968 789 1.096 574 1.108 569 1.889 745 648 448
2026/2027908 308 600 0 0 0 0 0 0 0 0 0 0
Totale 28.239