IRIS
BATTISTI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.871
EU - Europa 5.059
AS - Asia 1.144
SA - Sud America 152
AF - Africa 13
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 7
Totale 13.258
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Nazione #
US - Stati Uniti d'America 6.842
GB - Regno Unito 1.580
IE - Irlanda 836
CN - Cina 657
IT - Italia 571
UA - Ucraina 466
SE - Svezia 432
RU - Federazione Russa 344
SG - Singapore 318
DE - Germania 249
FR - Francia 233
FI - Finlandia 166
BR - Brasile 134
ES - Italia 44
TR - Turchia 44
BE - Belgio 36
NL - Olanda 34
VN - Vietnam 30
IN - India 29
CA - Canada 19
CZ - Repubblica Ceca 13
HK - Hong Kong 12
AU - Australia 9
EU - Europa 7
IR - Iran 7
JP - Giappone 7
AR - Argentina 6
HR - Croazia 6
HU - Ungheria 6
PK - Pakistan 6
BG - Bulgaria 5
CI - Costa d'Avorio 5
TW - Taiwan 5
EE - Estonia 4
GR - Grecia 4
PA - Panama 4
PL - Polonia 4
RO - Romania 4
AT - Austria 3
CL - Cile 3
CO - Colombia 3
IL - Israele 3
IQ - Iraq 3
KG - Kirghizistan 3
LK - Sri Lanka 3
LT - Lituania 3
LV - Lettonia 3
MA - Marocco 3
MX - Messico 3
NZ - Nuova Zelanda 3
AZ - Azerbaigian 2
BD - Bangladesh 2
BO - Bolivia 2
CH - Svizzera 2
EG - Egitto 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
UZ - Uzbekistan 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
ID - Indonesia 1
IM - Isola di Man 1
JM - Giamaica 1
JO - Giordania 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
MD - Moldavia 1
MM - Myanmar 1
NO - Norvegia 1
NP - Nepal 1
PH - Filippine 1
PT - Portogallo 1
PY - Paraguay 1
RS - Serbia 1
SA - Arabia Saudita 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 13.258
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Città #
Southend 1.480
Menlo Park 1.016
Dublin 833
Fairfield 818
Ashburn 496
Chandler 483
Woodbridge 428
Houston 406
Jacksonville 398
Santa Clara 376
Wilmington 332
Seattle 319
Cambridge 277
Ann Arbor 197
Princeton 172
Siena 138
Nanjing 137
Beijing 136
Singapore 115
Helsinki 89
New York 62
Boardman 60
Nanchang 53
San Diego 50
San Mateo 50
Shanghai 50
Málaga 42
Moscow 37
Shenyang 37
Izmir 33
Milan 33
Rome 32
Florence 31
Tianjin 30
Council Bluffs 29
Dong Ket 29
Washington 29
Hebei 28
Brussels 24
Dearborn 24
London 24
Kunming 23
Venezia 19
Düsseldorf 16
Munich 16
Norwalk 16
Zhengzhou 16
Jinan 15
Los Angeles 15
Changsha 13
Guangzhou 12
Lancaster 12
Falls Church 11
Waanrode 11
Hangzhou 10
Hong Kong 10
Jiaxing 10
Renton 10
São Paulo 10
Brno 8
Mestre 8
San Francisco 8
Dallas 7
Fremont 7
Hefei 7
Messina 7
Nuremberg 7
Tokyo 7
Toronto 7
Budapest 6
Falkenstein 6
Naples 6
Ningbo 6
Richland 6
Zagreb 6
Abidjan 5
Amsterdam 5
Chicago 5
Frankfurt am Main 5
Fuzhou 5
Sofia 5
Taizhou 5
The Dalles 5
Athens 4
Auburn Hills 4
Belo Horizonte 4
Bologna 4
Haikou 4
Lanzhou 4
Montreal 4
Pisa 4
Redwood City 4
Rio de Janeiro 4
Sesto Fiorentino 4
Sydney 4
Tallinn 4
Tappahannock 4
Turin 4
Aci Sant'Antonio 3
Bishkek 3
Totale 9.893
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Nome #
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 297
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 293
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 253
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 239
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 222
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 211
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 211
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 210
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 208
Demyelinating polyneuropathy in a case of anti-LGI1 encephalitis 191
Apoptosis and Oxidative Stress in Neurodegenerative Diseases 189
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 189
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 188
A Rett syndrome MECP2 mutation that causes mental retardation in men 185
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report 185
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 180
Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations 179
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 179
Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed 178
Human fibroblasts undergo oxidative stress-induced apoptosis without internucleosomal DNA fragmentation 177
Oxidative-stress-induced apoptosis in PBLs of two patients with Parkinson disease secondary to alpha-synuclein mutation 175
Altered apoptosis regulation in kufor-rakeb syndrome patients with mutations in the atp13a2 gene. 175
Vitamin-E serum level in LHON patients 173
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 168
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 167
Cerebrospinal fluid tau, Ass, and phosphorylated tau protein for the diagnosis of Alzheimer's disease 166
Vitamin E serum levels and gastric cancer: results from a cohort of patients in Tuscany, Italy 165
null 165
Vitamin E serum levels in Rett syndrome 161
CADASIL and cerebrovascular diseases 160
Amiodarone affects membrane water permeability properties of human erythrocytes and rat mitochondria. 158
Oxidative stress-induced apoptosis in two patients with Alagille syndrome. 157
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study 157
Retinochoroidal atrophy in two adult patients with Angelman syndrome 155
Increased apoptotic response to 2-deoxy-D-ribose in ataxia-telangiectasia 155
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 155
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency 154
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. 148
Genetic leukoencephalopaties with unknown metabolic pathogenesis 146
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 146
MR evidence of structural and metabolic changes in brains of patients with Werner’s syndrome. 145
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 142
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 142
The Primrose syndrome with progressive neurological involvement and cerebral calcification. 141
Vitamin E serum levels are normal in ataxia telangiectasia (Louis-Bar disease) 139
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts 138
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction? 138
Neuromyotonia as paraneoplastic manifestation of bladder carcinoma 137
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage 137
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease. 136
Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies 135
Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency 133
Epilepsy with bilateral occipital calcifications: Sturge-Weber variant or a different encephalopathy? 133
Giant axonal neuropathy with subclinical involvement of the central nervous system: case report 133
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities 131
Evaluation of brain apoptosis in a CADASIL postmortem case 131
Screening for CADASIL mutation in Leukoencephalopathies. 131
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene 130
Hypoplasia of the corpus callosum in Niemann-Pick type C disease 128
Increase of serum levels of vitamin E during human aging: Is it a protective factor against death? 126
Cerebrolysin administration reduces oxidative-stress induced apoptosis in limphocytes from healthy subjects 124
null 124
Functional and Brain Activation Changes Following Specialized Upper-Limb Exercise in Parkinson's Disease 121
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family 120
Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts 120
Changes in corticomotor pathway excitability after exercise training in Parkinson's disease 119
A case of ovarioleukodystrophy without elF2B mutations 117
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. 114
Neurological involvement in Werner's syndrome: clinical and biopsy study of a familial case 112
Clinical and neuroradiologic findings in three cases of fucosidosis 106
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study 106
Leucoencefalopatie genetiche a patogenesi metabolica ignota 105
Electrodiagnosis in cranial botulism 105
Neuro-ophthalmological involvement in 2 cases of Jejuno-Ileal by-pass surgery and vitamin E deficiency. 105
Neurophthalmologic and Orthoptic Ambulatory Assessments Reveal Ocular and Visual Changes in Patients With Early Alzheimer and Parkinson's Disease 105
Plasma levels of vitamin E in Parkinson's disease 103
Apoptotic reponse and cell cycle transition in ataxia telangiectasia cells exposed to oxidative stress 103
Clinical Features and Outcome of the Guillain–Barre Syndrome: A Single-Center 11-Year Experience 100
Muscle respiratory chain enzyme activities in parkinson's disease and in multisystem extrapyramidal disorders with parkinsonism as the main clinical feature 99
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 98
Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy 98
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation 93
Oculo-dento-digital syndrome (Gorlin's syndrome): clinical and genetical report of a new family 84
Prevalence and impact of COVID-19 in Parkinson’s disease: evidence from a multi-center survey in Tuscany region 84
An Italian family carrying a new mutation in the COL4A1 gene 83
Serum vitamin E in inherited ataxias 81
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 81
Eye movement changes in autosomal dominant spinocerebellar ataxias 79
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts 76
Enhanced 2-deoxy-D-ribose-induced-apoptosis, a phenotype of lymphocytes from old donors, is not observed in the Werner syndrome 73
Diagnosis, treatment, and follow-up of patients with cerebral amyloid angiopathy-related inflammation 69
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 62
FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years 50
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 39
Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery 34
A case report of FAVA syndrome in a young woman carrying a mutation in the PIK3CA gene 30
Totale 13.398
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Categoria #
all - tutte 42.220
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 42.220
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020332 0 0 0 0 0 0 0 0 0 145 69 118
2020/20211.721 81 157 79 126 114 191 76 290 208 108 169 122
2021/20221.157 84 150 83 69 62 34 62 42 54 130 125 262
2022/20231.753 109 133 250 209 173 351 50 152 173 51 69 33
2023/20241.395 47 30 148 70 55 386 449 46 20 26 19 99
2024/20251.585 38 129 253 149 372 151 72 126 210 85 0 0
Totale 13.398