IRIS
BATTISTINI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 7.886
EU - Europa 6.068
AS - Asia 3.450
SA - Sud America 557
AF - Africa 201
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 10
Totale 18.185
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Nazione #
US - Stati Uniti d'America 7.793
GB - Regno Unito 1.622
CN - Cina 1.220
RU - Federazione Russa 1.110
SG - Singapore 978
IE - Irlanda 783
IT - Italia 504
UA - Ucraina 461
BR - Brasile 457
SE - Svezia 445
VN - Vietnam 355
FR - Francia 343
DE - Germania 323
HK - Hong Kong 267
KR - Corea 230
FI - Finlandia 216
ZA - Sudafrica 113
TR - Turchia 103
IN - India 82
NL - Olanda 71
CA - Canada 49
ES - Italia 44
BD - Bangladesh 35
AR - Argentina 32
MX - Messico 29
PL - Polonia 28
CI - Costa d'Avorio 26
IQ - Iraq 26
JP - Giappone 26
BE - Belgio 25
PK - Pakistan 25
NG - Nigeria 24
AT - Austria 20
SA - Arabia Saudita 18
EC - Ecuador 15
VE - Venezuela 14
CZ - Repubblica Ceca 13
AU - Australia 10
CO - Colombia 10
CH - Svizzera 9
TN - Tunisia 9
UZ - Uzbekistan 9
CL - Cile 8
IL - Israele 8
JO - Giordania 8
PH - Filippine 8
EU - Europa 7
ID - Indonesia 7
PY - Paraguay 7
RO - Romania 7
UY - Uruguay 7
AE - Emirati Arabi Uniti 6
AL - Albania 6
LT - Lituania 6
DZ - Algeria 5
KE - Kenya 5
MA - Marocco 5
MY - Malesia 5
PE - Perù 5
BG - Bulgaria 4
EG - Egitto 4
GR - Grecia 4
HR - Croazia 4
IR - Iran 4
PT - Portogallo 4
RS - Serbia 4
AZ - Azerbaigian 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
GE - Georgia 3
KH - Cambogia 3
KZ - Kazakistan 3
MN - Mongolia 3
NZ - Nuova Zelanda 3
TH - Thailandia 3
BO - Bolivia 2
CR - Costa Rica 2
ET - Etiopia 2
GT - Guatemala 2
LB - Libano 2
LY - Libia 2
MD - Moldavia 2
MK - Macedonia 2
NI - Nicaragua 2
NP - Nepal 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
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A2 - ???statistics.table.value.countryCode.A2??? 1
AO - Angola 1
BF - Burkina Faso 1
BH - Bahrain 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
DM - Dominica 1
EE - Estonia 1
HN - Honduras 1
HU - Ungheria 1
Totale 18.176
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Città #
Southend 1.461
Dallas 910
Fairfield 791
Dublin 779
Ashburn 583
Singapore 552
Chandler 490
Houston 431
Jacksonville 369
Santa Clara 368
Moscow 319
Wilmington 319
Woodbridge 317
Seattle 308
Beijing 301
Cambridge 295
Hong Kong 256
San Jose 241
Ann Arbor 204
Hefei 204
Siena 173
Princeton 165
Seoul 153
The Dalles 152
Nanjing 125
Menlo Park 109
Los Angeles 105
Council Bluffs 104
Johannesburg 104
Ho Chi Minh City 100
New York 90
Hanoi 85
Lauterbourg 81
Helsinki 78
Munich 76
Izmir 69
Boardman 63
Milan 53
San Diego 53
San Mateo 47
Nanchang 41
São Paulo 41
Buffalo 40
Columbus 37
Shanghai 36
Shenyang 36
Dearborn 33
Lappeenranta 33
Orem 33
Turku 31
San Francisco 29
Frankfurt am Main 28
Hebei 27
London 27
Abidjan 26
Warsaw 26
Dong Ket 25
Abuja 24
Málaga 23
Norwalk 23
Tokyo 23
Changsha 22
Chennai 20
Bengaluru 19
Brussels 18
Da Nang 18
Jiaxing 18
Kunming 17
Montreal 17
Rome 17
Tianjin 17
Haiphong 16
Atlanta 15
Nuremberg 15
Amsterdam 14
Denver 14
Stockholm 14
Brasília 13
Brooklyn 13
Chicago 13
Düsseldorf 13
Manchester 13
Naples 13
Phoenix 13
Redondo Beach 13
Toronto 12
Venezia 12
Vienna 12
Belo Horizonte 11
Fremont 11
Lahore 11
Porto Alegre 11
Baghdad 10
Boston 10
Lancaster 10
Mexico City 10
Poplar 10
Jinan 9
New Delhi 9
Paris 9
Totale 12.657
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Nome #
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 342
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 324
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 310
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy 301
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study 297
MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis 284
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia 282
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 279
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD 276
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients 273
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis 269
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 267
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 266
Cavernous malformation of the optic nerve mimicking optic neuritis 265
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 261
No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population 259
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype 253
ANALYSIS OF THE HYPOXIA-RESPONSE ELEMENT OF THE VASCULAR ENDOTHELIAL GROWTH FACTOR PROMOTER IN SPORADIC ALS PATIENTS 249
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 247
Genetic architecture of ALS in Sardinia 241
Exome sequencing reveals VCP mutations as a cause of familial ALS. 228
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 226
Deep vein thrombosis during varicella in a child with factor V Leiden mutation and familial deficiency of protein S 225
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS 222
A new Krit1 gene mutation in a family with cerebral cavernous malformation (CCM) associated with intraorbital optic nerve and cutaneous cavernous angiomas 221
Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation 221
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients 220
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation 215
Analysis of regulatory regions of macrophage migration inhibitory factor (MIF) gene in Italian ALS patients 215
D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings 215
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 214
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) 213
Posterior knee pain: primary symptom of a small non-occlusive venous clot. 213
A novel SOD1 gene mutation in a familial ALS patient 213
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosis patients 213
Lack of association of PON polymorphisms with sporadic ALS in an Italian population 205
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene. 204
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide 204
A novel variant in superoxide dismutase 1 gene (P.V119M) in als patients with pure lower motor neuron presentation 202
FUS mutations in sporadic amyotrophic lateral sclerosis 200
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants 198
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 194
Cherry-red spot myoclonus syndrome (type I sialidosis) 192
Descrizione di una nuova mutazione del gene Krit1 in una forma familiare di angioma cavernoso cerebrale associata ad angioma ottico e ad angioma cutaneo 188
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation 185
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 184
Molecular basis of late-life globoid cell leukodystrophy 182
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. 182
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration 181
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 181
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population 180
Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle 180
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene 179
Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment 178
CACNA1A gene non-synonymous SNPs and common Migraine in Italy: a case-control association study with a micro-array technology. 178
Molecular genetic analysis of cerebral cavernous malformations: An update 178
Familial hemiplegic migraine: a ion channel disorder 177
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten 177
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test 176
Paraoxonase gene polymorphisms and susceptibility to sporadic ALS in Italian population. Preliminary results. 175
SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY 171
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 171
Molecular genetic features of cerebral cavernous malformations (CCM) patients: An overall view from genes to endothelial cells 168
Genetic Variations within Krit1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation 167
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 162
Mutational analysis of the inhibin alpha gene in preeclamptic women 162
Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene 162
Substitution of alanine543 with a threonine residue at the carboxy terminal end of the beta-chain is associated with thermolabile hexosaminidase B in a Jewish family of Oriental ancestry 160
Late-onset GM2-gangliosidosis in two siblings of Ashkenazi Jewish ancestry results from a mutation in the HEXA gene causing abnormal thermolability of Hexosaminidase A 160
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 153
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations 149
The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. 146
FUS Mutations in a Large Series of Sporadic and Familial ALS 145
Multiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of Globoid cell leukodystrophy 144
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study 143
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 142
Molecular genetics of late-onset forms of Krabbe’s disease 136
Evidence for a founder effect for the Gly41Ser SOD1 gene mutation: report of four amyothrophic lateral sclerosis italian families from central Italy. 135
Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort 129
null 128
HFE p.H63D polymorphism does not influence ALS phenotype and survival 127
null 124
Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. 123
Potential role of 11 beta-hydroxysteroid dehydrogenase in human trophoblast-endometrial interactions 120
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene 119
null 118
Genetics of Familial Hemiplegic Migraine: state of the art 117
Substitution of alanine 531 with a threonine residue at the carboxy terminal end of the -chain is associated with thermolabile Hexosaminidase B in a Jewish family of Oriental ancestry 116
Effectiveness and tolerability of rimegepant in the acute treatment of migraine: a real-world, prospective, multicentric study (GAINER study) 115
null 114
Search for candidate genes in common Migraine in the Italian population 113
Long-term treatment over 52 weeks with monthly fremanezumab in drug-resistant migraine: a prospective multicenter cohort study 112
Effectiveness and tolerability of atogepant in the prevention of migraine: A real life, prospective, multicentric study (the STAR study) 110
HNPP-like phenotype in a case of Dunnigan lypodystrophy 104
Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target 89
The strategy of investigating autistic syndromes in childhood 73
Levels of migraine controls following International Headache Society (IHS) recommendations with eptinezumab: effectiveness and tolerability in a 24-week, prospective multicenter study (the TACHIS study) 13
The chronopharmacology of atogepant in migraine prevention: A real-world evaluation of influence of timing of administration on effectiveness and tolerability 12
Sex differences in the clinical features of 2,841 patients with migraine: a post-hoc, multicenter, cross-sectional study 11
Totale 18.342
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Categoria #
all - tutte 52.365
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 52.365
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021337 0 0 0 0 0 0 0 0 0 122 121 94
2021/20221.140 81 125 72 101 36 40 87 44 47 108 131 268
2022/20231.654 102 135 226 229 183 332 12 149 178 35 51 22
2023/20241.185 42 26 98 123 27 317 389 36 2 37 16 72
2024/20252.420 69 133 202 118 327 122 55 130 228 92 333 611
2025/20265.594 485 912 746 639 1.058 223 686 231 258 356 0 0
Totale 18.342