CRIS Current Research Information System

LA MORGIA, CHIARA
 Distribuzione geografica
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Continente #
NA - Nord America 6.368
EU - Europa 4.404
AS - Asia 2.132
AF - Africa 259
SA - Sud America 12
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 3
Totale 13.187
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Nazione #
US - Stati Uniti d'America 6.333
GB - Regno Unito 1.262
IT - Italia 870
CN - Cina 761
SE - Svezia 626
DE - Germania 598
SG - Singapore 481
VN - Vietnam 451
IN - India 275
IE - Irlanda 210
RU - Federazione Russa 172
FR - Francia 171
UA - Ucraina 157
ZA - Sudafrica 89
EE - Estonia 88
CI - Costa d'Avorio 85
TG - Togo 64
JO - Giordania 62
CH - Svizzera 60
BG - Bulgaria 49
HK - Hong Kong 33
FI - Finlandia 31
BE - Belgio 22
CA - Canada 20
GR - Grecia 16
JP - Giappone 15
SC - Seychelles 15
MX - Messico 13
NL - Olanda 12
RO - Romania 11
PL - Polonia 9
AT - Austria 7
AU - Australia 7
CL - Cile 7
CZ - Repubblica Ceca 7
ES - Italia 7
IR - Iran 7
LB - Libano 7
TW - Taiwan 7
NG - Nigeria 6
IL - Israele 4
PH - Filippine 4
TR - Turchia 4
A2 - ???statistics.table.value.countryCode.A2??? 3
BH - Bahrain 3
BR - Brasile 3
DK - Danimarca 3
MY - Malesia 3
HR - Croazia 2
KR - Corea 2
LV - Lettonia 2
MC - Monaco 2
MT - Malta 2
NZ - Nuova Zelanda 2
PK - Pakistan 2
PT - Portogallo 2
QA - Qatar 2
UZ - Uzbekistan 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AR - Argentina 1
BN - Brunei Darussalam 1
CR - Costa Rica 1
HU - Ungheria 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MK - Macedonia 1
PA - Panama 1
PE - Perù 1
RS - Serbia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
Totale 13.187
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Città #
Southend 1.159
Fairfield 869
Chandler 585
Ashburn 490
Singapore 425
Wilmington 374
Woodbridge 367
Seattle 347
Houston 333
Princeton 295
Ann Arbor 287
Cambridge 252
Dong Ket 252
Bologna 223
Dublin 209
Nanjing 117
Redmond 116
Westminster 108
Berlin 100
Padova 93
Santa Clara 89
Jacksonville 87
Abidjan 85
Turin 82
New York 69
Lomé 64
Amman 62
Jinan 55
San Diego 54
Saint Petersburg 50
Bern 49
Sofia 48
Milan 47
Boydton 38
Falls Church 38
Nanchang 36
Redwood City 36
Beijing 35
Shenyang 33
Hong Kong 31
Medford 31
Shanghai 31
Tianjin 31
Guangzhou 28
Hebei 28
Des Moines 24
Los Angeles 23
Brussels 22
Hangzhou 22
Helsinki 22
Mülheim 22
Norwalk 22
Changsha 21
Jiaxing 20
Warrington 20
Florence 19
Pune 19
London 18
Olalla 18
Kuban 17
Zhengzhou 17
Dearborn 16
Doylestown 16
Ancona 15
Frankfurt am Main 15
Rome 15
Boardman 14
Bühl 14
Mahé 13
Phoenix 13
Taiyuan 13
Ningbo 12
Washington 12
Haikou 11
Paris 11
San Francisco 11
Fuzhou 10
Qingdao 10
Tokyo 10
Juarez 9
Parma 9
Sant Angelo 9
Lappeenranta 8
Mountain View 8
Naples 8
Shenzhen 8
Taizhou 8
Bengaluru 7
Kunming 7
Toronto 7
Verona 7
Xi'an 7
Abeokuta 6
Wuhan 6
Bari 5
Harbin 5
Hyderabad 5
Lanzhou 5
Livorno 5
Messina 5
Totale 8.939
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Nome #
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome 192
'Behr syndrome' with OPA1 compound heterozygote mutations 189
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 173
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations 163
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions 163
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy 161
"Agrypnia excitata'' in a case of sporadic Creutzfeldt-Jakob disease VV2 159
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. 158
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism 155
Augmentation of restless legs syndrome with long-term tramadol treatment. 153
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 149
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations 148
A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome. 143
Genetic Basis of Mitochondrial Optic Neuropathies. 141
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. 135
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies 133
Effects of light treatment on sleep, cognition, mood, and behavior in Alzheimer's disease: A systematic review 131
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. 131
Mitochondrial optic neuropathies: how two genomes may kill the same cell type? 130
Idiopathic intracranial hypertension without papilledema (IIHWOP) in chronic refractory headache 130
Idebenone treatment in Leber's hereditary optic neuropathy. 130
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. 129
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? 128
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 128
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 125
Leber's Hereditary optic Neuropathy 123
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 123
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy 122
Agrypnia Excitata 121
Busulfan neurotoxicity and EEG abnormalities: a case report. 120
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. 119
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 119
Epilepsy in coeliac disease: not just a matter of calcifications. 118
Stati di male convulsivi ricorrenti nell'adulto: modalità di presentazione della encefalopatia di Hashimoto? 115
Melanopsin-expressing retinal ganglion cells: implications for human diseases. 115
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 115
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients 114
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation 114
Clinical syndromes associated with mtDNA mutations: Where we stand after 30 years 114
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 114
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 114
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 113
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 113
Leber's Hereditary Optic Neuropathy with childhood onset. 112
Incomplete penetrance in mitochondrial optic neuropathies 110
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation 109
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. 108
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? 108
Functional MRI study in a case of Charles Bonnet syndrome related to LHON 108
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes 107
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. 106
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy 106
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. 104
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). 102
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 102
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. 101
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 100
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 100
A neurodegenerative perspective on mitochondrial optic neuropathies 99
Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers? 98
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study 97
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations 97
Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy 96
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs 96
Optic neuropathies: The tip of the neurodegeneration iceberg 96
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. 95
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease 95
Re: Pilat et al.: High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9) 95
Mitochondrial optic neuropathies: our travels from bench to bedside and back again. 93
Melanopsin retinal ganglion cell loss in Alzheimer's disease 93
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus 92
Double dissociation between severe CIPO, mild neurological, but severe neuroradiological findings: Presentation of 6 cases of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) 92
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction 90
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 88
Nocturnal melatonin regulation in post-traumatic vegetative state: A possible role for melatonin supplementation? 88
Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber’s hereditary optic neuropathy 86
Sleep Quality , school performances and driving habits in adolescents 85
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. 85
Retinal ganglion cells and circadian rhythms in Alzheimer's disease, Parkinson's disease, and beyond 85
Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always 84
Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. 83
Extreme variability in genotype/phenotype correlation in an Italian family carrying the mtDNA A3243G/tRNALeu(UUR) MELAS mutation. 83
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness 83
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 82
Lebers hereditary optic neuropathy: New quinone therapies change the paradigm 82
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 81
Macular microcysts in mitochondrial optic neuropathies: Prevalence and retinal layer thickness measurements 81
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy 80
The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells. 79
Chromatic Pupillometry Findings in Alzheimer’s Disease 79
Mitochondrial optic neuropathies: additional facts and concepts - response 77
Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker 77
Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy. 76
Natural History of Conversion of Leber's Hereditary Optic Neuropathy. A Prospective Case Series 76
null 75
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families. 75
Patterns of retinal ganglion cell damage in neurodegenerative disorders: Parvocellular vs magnocellular degeneration in optical coherence tomography studies 74
Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology 74
Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration. 72
OPA1 Gene Screening in Italian Dominant Optic Neuropathy (DOA) Patients Reveals New Mutations and Genetic Heterogeneity. 72
Totale 10.952
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Categoria #
all - tutte 38.451
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 38.451
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.598 0 0 0 174 302 272 390 431 521 203 153 152
2020/20211.926 379 122 44 113 55 122 48 136 159 78 81 589
2021/20222.568 173 105 145 128 227 113 86 300 138 204 523 426
2022/20232.908 282 371 154 337 244 261 126 190 466 78 227 172
2023/2024975 49 153 86 71 89 197 70 63 43 70 40 44
2024/20251.195 157 576 298 164 0 0 0 0 0 0 0 0
Totale 13.682