IRIS
BATTISTINI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 7.335
EU - Europa 5.786
AS - Asia 2.818
SA - Sud America 466
AF - Africa 53
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 10
Totale 16.481
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Nazione #
US - Stati Uniti d'America 7.262
GB - Regno Unito 1.596
CN - Cina 1.134
RU - Federazione Russa 1.107
SG - Singapore 835
IE - Irlanda 780
UA - Ucraina 458
IT - Italia 452
SE - Svezia 440
BR - Brasile 405
DE - Germania 307
FR - Francia 236
HK - Hong Kong 231
KR - Corea 228
FI - Finlandia 199
VN - Vietnam 121
TR - Turchia 94
NL - Olanda 53
IN - India 50
CA - Canada 39
ES - Italia 38
CI - Costa d'Avorio 26
AR - Argentina 23
MX - Messico 23
BE - Belgio 22
PL - Polonia 21
JP - Giappone 20
AT - Austria 19
BD - Bangladesh 18
CZ - Repubblica Ceca 13
EC - Ecuador 12
SA - Arabia Saudita 12
ZA - Sudafrica 12
AU - Australia 10
IQ - Iraq 10
PK - Pakistan 10
IL - Israele 8
EU - Europa 7
ID - Indonesia 7
CH - Svizzera 6
CO - Colombia 6
UZ - Uzbekistan 6
PE - Perù 5
PY - Paraguay 5
TN - Tunisia 5
AE - Emirati Arabi Uniti 4
BG - Bulgaria 4
GR - Grecia 4
IR - Iran 4
LT - Lituania 4
RO - Romania 4
VE - Venezuela 4
AL - Albania 3
DK - Danimarca 3
GE - Georgia 3
JO - Giordania 3
KH - Cambogia 3
NZ - Nuova Zelanda 3
PT - Portogallo 3
RS - Serbia 3
UY - Uruguay 3
CL - Cile 2
DO - Repubblica Dominicana 2
EG - Egitto 2
HR - Croazia 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
MD - Moldavia 2
MK - Macedonia 2
MN - Mongolia 2
PH - Filippine 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
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A2 - ???statistics.table.value.countryCode.A2??? 1
AZ - Azerbaigian 1
BH - Bahrain 1
BO - Bolivia 1
BY - Bielorussia 1
CR - Costa Rica 1
DM - Dominica 1
DZ - Algeria 1
EE - Estonia 1
ET - Etiopia 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
JM - Giamaica 1
KG - Kirghizistan 1
LU - Lussemburgo 1
LY - Libia 1
MA - Marocco 1
MM - Myanmar 1
MY - Malesia 1
NG - Nigeria 1
NI - Nicaragua 1
NP - Nepal 1
OM - Oman 1
PA - Panama 1
Totale 16.479
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Città #
Southend 1.461
Dallas 909
Fairfield 791
Dublin 777
Ashburn 550
Chandler 490
Singapore 465
Houston 429
Jacksonville 369
Santa Clara 365
Moscow 319
Wilmington 319
Woodbridge 317
Seattle 308
Beijing 300
Cambridge 295
Hong Kong 229
Ann Arbor 204
Siena 173
Hefei 170
Princeton 164
Seoul 153
Nanjing 125
Menlo Park 109
Los Angeles 89
The Dalles 88
New York 85
Munich 75
Izmir 69
Boardman 63
Helsinki 62
San Diego 53
Milan 48
San Mateo 47
Nanchang 41
Buffalo 39
Shenyang 36
Columbus 35
Council Bluffs 35
Shanghai 35
Ho Chi Minh City 34
Dearborn 33
Lappeenranta 32
São Paulo 32
Turku 31
San Francisco 29
Hebei 27
Abidjan 26
Dong Ket 25
Hanoi 24
London 24
Málaga 23
Norwalk 23
Changsha 22
Warsaw 19
Jiaxing 18
Bengaluru 17
Frankfurt am Main 17
Kunming 17
Tianjin 17
Tokyo 17
Brussels 16
Rome 16
Nuremberg 15
Denver 14
Brooklyn 13
Chicago 13
Düsseldorf 13
Redondo Beach 13
Stockholm 13
Atlanta 12
Montreal 12
Naples 12
Toronto 12
Venezia 12
Brasília 11
Chennai 11
Fremont 11
Porto Alegre 11
Vienna 11
Lancaster 10
Manchester 10
Mexico City 10
Phoenix 10
Belo Horizonte 9
Boston 9
Jinan 9
Orem 9
Poplar 9
Redwood City 9
Guangzhou 8
Ningbo 8
Secaucus 8
Segrate 8
Taizhou 8
Zhengzhou 8
Amsterdam 7
Bonndorf 7
Brno 7
Campinas 7
Totale 11.609
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Nome #
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 331
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 293
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 290
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy 286
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study 267
MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis 263
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 257
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 254
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD 253
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia 252
No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population 249
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 248
Cavernous malformation of the optic nerve mimicking optic neuritis 247
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients 246
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis 242
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 237
ANALYSIS OF THE HYPOXIA-RESPONSE ELEMENT OF THE VASCULAR ENDOTHELIAL GROWTH FACTOR PROMOTER IN SPORADIC ALS PATIENTS 234
Genetic architecture of ALS in Sardinia 231
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype 230
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 227
Exome sequencing reveals VCP mutations as a cause of familial ALS. 214
Deep vein thrombosis during varicella in a child with factor V Leiden mutation and familial deficiency of protein S 211
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS 205
Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation 205
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation 202
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 202
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 201
A new Krit1 gene mutation in a family with cerebral cavernous malformation (CCM) associated with intraorbital optic nerve and cutaneous cavernous angiomas 200
Posterior knee pain: primary symptom of a small non-occlusive venous clot. 199
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients 198
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosis patients 196
D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings 196
Analysis of regulatory regions of macrophage migration inhibitory factor (MIF) gene in Italian ALS patients 195
A novel SOD1 gene mutation in a familial ALS patient 195
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) 191
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene. 191
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide 189
Lack of association of PON polymorphisms with sporadic ALS in an Italian population 188
FUS mutations in sporadic amyotrophic lateral sclerosis 181
Cherry-red spot myoclonus syndrome (type I sialidosis) 180
A novel variant in superoxide dismutase 1 gene (P.V119M) in als patients with pure lower motor neuron presentation 178
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation 175
Descrizione di una nuova mutazione del gene Krit1 in una forma familiare di angioma cavernoso cerebrale associata ad angioma ottico e ad angioma cutaneo 173
Molecular basis of late-life globoid cell leukodystrophy 172
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population 171
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 171
Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle 170
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 170
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants 170
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. 168
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene 168
Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment 165
Familial hemiplegic migraine: a ion channel disorder 164
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test 164
CACNA1A gene non-synonymous SNPs and common Migraine in Italy: a case-control association study with a micro-array technology. 163
Paraoxonase gene polymorphisms and susceptibility to sporadic ALS in Italian population. Preliminary results. 161
SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY 156
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 155
Molecular genetic analysis of cerebral cavernous malformations: An update 155
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 151
Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene 151
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 150
Genetic Variations within Krit1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation 150
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten 149
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 147
Mutational analysis of the inhibin alpha gene in preeclamptic women 144
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration 142
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 136
FUS Mutations in a Large Series of Sporadic and Familial ALS 135
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study 134
Molecular genetic features of cerebral cavernous malformations (CCM) patients: An overall view from genes to endothelial cells 134
The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. 132
Multiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of Globoid cell leukodystrophy 129
null 128
Evidence for a founder effect for the Gly41Ser SOD1 gene mutation: report of four amyothrophic lateral sclerosis italian families from central Italy. 126
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 126
null 124
Molecular genetics of late-onset forms of Krabbe’s disease 121
null 118
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations 117
Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort 117
null 114
Potential role of 11 beta-hydroxysteroid dehydrogenase in human trophoblast-endometrial interactions 113
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 112
Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. 110
HFE p.H63D polymorphism does not influence ALS phenotype and survival 107
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene 106
Genetics of Familial Hemiplegic Migraine: state of the art 104
Search for candidate genes in common Migraine in the Italian population 101
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 101
HNPP-like phenotype in a case of Dunnigan lypodystrophy 92
Long-term treatment over 52 weeks with monthly fremanezumab in drug-resistant migraine: a prospective multicenter cohort study 88
Effectiveness and tolerability of rimegepant in the acute treatment of migraine: a real-world, prospective, multicentric study (GAINER study) 73
Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target 70
Effectiveness and tolerability of atogepant in the prevention of migraine: A real life, prospective, multicentric study (the STAR study) 68
The strategy of investigating autistic syndromes in childhood 64
Totale 16.629
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Categoria #
all - tutte 49.068
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 49.068
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.086 0 0 0 0 0 167 84 312 186 122 121 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
2025/20263.881 485 912 746 639 1.058 41 0 0 0 0 0 0
Totale 16.629