IRIS
BATTISTI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.339
EU - Europa 4.551
AS - Asia 788
OC - Oceania 12
SA - Sud America 8
Continente sconosciuto - Info sul continente non disponibili 7
AF - Africa 3
Totale 11.708
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Nazione #
US - Stati Uniti d'America 6.324
GB - Regno Unito 1.575
IE - Irlanda 834
CN - Cina 610
UA - Ucraina 464
IT - Italia 442
SE - Svezia 432
FR - Francia 232
DE - Germania 224
FI - Finlandia 153
SG - Singapore 48
ES - Italia 44
RU - Federazione Russa 43
TR - Turchia 41
BE - Belgio 32
VN - Vietnam 29
IN - India 27
NL - Olanda 24
CA - Canada 13
CZ - Repubblica Ceca 13
AU - Australia 9
EU - Europa 7
IR - Iran 7
JP - Giappone 7
HR - Croazia 5
TW - Taiwan 5
GR - Grecia 4
BG - Bulgaria 3
BR - Brasile 3
CL - Cile 3
EE - Estonia 3
HU - Ungheria 3
IL - Israele 3
NZ - Nuova Zelanda 3
PL - Polonia 3
RO - Romania 3
CH - Svizzera 2
HK - Hong Kong 2
LV - Lettonia 2
PK - Pakistan 2
SI - Slovenia 2
AT - Austria 1
BA - Bosnia-Erzegovina 1
BO - Bolivia 1
CO - Colombia 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ID - Indonesia 1
IM - Isola di Man 1
KG - Kirghizistan 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LT - Lituania 1
MA - Marocco 1
MD - Moldavia 1
MM - Myanmar 1
NO - Norvegia 1
PA - Panama 1
PH - Filippine 1
PT - Portogallo 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 11.708
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Città #
Southend 1.480
Menlo Park 1.016
Dublin 831
Fairfield 818
Ashburn 487
Chandler 483
Woodbridge 428
Houston 406
Jacksonville 398
Wilmington 332
Seattle 319
Cambridge 277
Ann Arbor 197
Princeton 172
Nanjing 137
Beijing 136
Siena 132
Helsinki 78
New York 62
Boardman 60
Nanchang 53
San Diego 50
San Mateo 50
Shanghai 46
Málaga 42
Moscow 37
Shenyang 37
Izmir 32
Tianjin 30
Dong Ket 29
Washington 29
Hebei 28
Florence 27
Singapore 26
Dearborn 24
Kunming 23
Rome 23
London 21
Brussels 20
Venezia 19
Düsseldorf 16
Norwalk 16
Jinan 15
Changsha 12
Lancaster 12
Zhengzhou 12
Falls Church 11
Milan 11
Waanrode 11
Guangzhou 10
Hangzhou 10
Jiaxing 10
Renton 10
Brno 8
Mestre 8
San Francisco 8
Fremont 7
Hefei 7
Tokyo 7
Messina 6
Ningbo 6
Richland 6
Chicago 5
Los Angeles 5
Taizhou 5
Toronto 5
Zagreb 5
Amsterdam 4
Athens 4
Auburn Hills 4
Fuzhou 4
Haikou 4
Lanzhou 4
Montreal 4
Munich 4
Redwood City 4
Sesto Fiorentino 4
Sydney 4
Tappahannock 4
Aci Sant'Antonio 3
Brugherio 3
Budapest 3
Campi Bisenzio 3
Chiswick 3
Como 3
Falkenstein 3
Itri 3
Leawood 3
Livorno 3
Melbourne 3
Phoenix 3
Prague 3
Reggello 3
Sofia 3
São Paulo 3
Taipei 3
Tallinn 3
Wuhan 3
Acton 2
Alessandria 2
Totale 9.248
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Nome #
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 279
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 271
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 236
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 209
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 192
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 190
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 187
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 187
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report 175
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 172
Demyelinating polyneuropathy in a case of anti-LGI1 encephalitis 172
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 171
Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed 168
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 167
Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations 166
Apoptosis and Oxidative Stress in Neurodegenerative Diseases 165
null 165
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 164
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 163
A Rett syndrome MECP2 mutation that causes mental retardation in men 162
Human fibroblasts undergo oxidative stress-induced apoptosis without internucleosomal DNA fragmentation 161
Vitamin-E serum level in LHON patients 161
Oxidative-stress-induced apoptosis in PBLs of two patients with Parkinson disease secondary to alpha-synuclein mutation 159
Altered apoptosis regulation in kufor-rakeb syndrome patients with mutations in the atp13a2 gene. 156
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 154
Vitamin E serum levels and gastric cancer: results from a cohort of patients in Tuscany, Italy 153
Cerebrospinal fluid tau, Ass, and phosphorylated tau protein for the diagnosis of Alzheimer's disease 153
Vitamin E serum levels in Rett syndrome 152
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 145
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 144
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency 143
CADASIL and cerebrovascular diseases 142
Increased apoptotic response to 2-deoxy-D-ribose in ataxia-telangiectasia 142
Amiodarone affects membrane water permeability properties of human erythrocytes and rat mitochondria. 141
Oxidative stress-induced apoptosis in two patients with Alagille syndrome. 140
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study 140
Retinochoroidal atrophy in two adult patients with Angelman syndrome 138
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 134
The Primrose syndrome with progressive neurological involvement and cerebral calcification. 132
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 131
MR evidence of structural and metabolic changes in brains of patients with Werner’s syndrome. 131
Vitamin E serum levels are normal in ataxia telangiectasia (Louis-Bar disease) 131
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage 129
Genetic leukoencephalopaties with unknown metabolic pathogenesis 129
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction? 129
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 126
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease. 125
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. 125
null 124
Neuromyotonia as paraneoplastic manifestation of bladder carcinoma 123
Giant axonal neuropathy with subclinical involvement of the central nervous system: case report 123
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts 121
Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency 121
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene 120
Screening for CADASIL mutation in Leukoencephalopathies. 120
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities 118
Increase of serum levels of vitamin E during human aging: Is it a protective factor against death? 118
Epilepsy with bilateral occipital calcifications: Sturge-Weber variant or a different encephalopathy? 114
Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies 113
Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts 113
Hypoplasia of the corpus callosum in Niemann-Pick type C disease 112
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family 112
Evaluation of brain apoptosis in a CADASIL postmortem case 109
Cerebrolysin administration reduces oxidative-stress induced apoptosis in limphocytes from healthy subjects 107
Neurological involvement in Werner's syndrome: clinical and biopsy study of a familial case 106
A case of ovarioleukodystrophy without elF2B mutations 102
Changes in corticomotor pathway excitability after exercise training in Parkinson's disease 100
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. 99
Functional and Brain Activation Changes Following Specialized Upper-Limb Exercise in Parkinson's Disease 99
Clinical and neuroradiologic findings in three cases of fucosidosis 96
Plasma levels of vitamin E in Parkinson's disease 96
Neuro-ophthalmological involvement in 2 cases of Jejuno-Ileal by-pass surgery and vitamin E deficiency. 96
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study 94
Leucoencefalopatie genetiche a patogenesi metabolica ignota 91
Apoptotic reponse and cell cycle transition in ataxia telangiectasia cells exposed to oxidative stress 90
Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy 87
Electrodiagnosis in cranial botulism 86
Muscle respiratory chain enzyme activities in parkinson's disease and in multisystem extrapyramidal disorders with parkinsonism as the main clinical feature 85
Lymphoblastoin cell lines of Rett sindrome patients exposed to exidative-stress-induced apoptosis 84
Neurophthalmologic and Orthoptic Ambulatory Assessments Reveal Ocular and Visual Changes in Patients With Early Alzheimer and Parkinson's Disease 83
Clinical Features and Outcome of the Guillain–Barre Syndrome: A Single-Center 11-Year Experience 75
Oculo-dento-digital syndrome (Gorlin's syndrome): clinical and genetical report of a new family 75
Serum vitamin E in inherited ataxias 73
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts 67
An Italian family carrying a new mutation in the COL4A1 gene 67
Enhanced 2-deoxy-D-ribose-induced-apoptosis, a phenotype of lymphocytes from old donors, is not observed in the Werner syndrome 65
Eye movement changes in autosomal dominant spinocerebellar ataxias 64
Prevalence and impact of COVID-19 in Parkinson’s disease: evidence from a multi-center survey in Tuscany region 64
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation 56
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene 52
Diagnosis, treatment, and follow-up of patients with cerebral amyloid angiopathy-related inflammation 49
Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery 21
FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years 17
A case report of FAVA syndrome in a young woman carrying a mutation in the PIK3CA gene 13
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 11
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 3
Totale 11.841
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Categoria #
all - tutte 33.526
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 33.526
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.334 299 76 173 398 197 171 202 271 215 145 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
2024/202528 28 0 0 0 0 0 0 0 0 0 0 0
Totale 11.841