IRIS
BATTISTINI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.755
EU - Europa 4.686
AS - Asia 1.131
SA - Sud America 215
AF - Africa 34
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 9
Totale 11.843
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Nazione #
US - Stati Uniti d'America 5.731
GB - Regno Unito 1.557
IE - Irlanda 780
CN - Cina 553
UA - Ucraina 448
SE - Svezia 431
IT - Italia 392
SG - Singapore 338
RU - Federazione Russa 306
DE - Germania 236
FR - Francia 217
BR - Brasile 202
FI - Finlandia 170
TR - Turchia 85
KR - Corea 75
NL - Olanda 41
VN - Vietnam 26
CI - Costa d'Avorio 25
ES - Italia 25
BE - Belgio 22
CA - Canada 18
AT - Austria 14
CZ - Repubblica Ceca 12
AU - Australia 10
HK - Hong Kong 9
EU - Europa 7
IL - Israele 7
CH - Svizzera 5
IQ - Iraq 5
AR - Argentina 4
BG - Bulgaria 4
IN - India 4
IR - Iran 4
JP - Giappone 4
RO - Romania 4
EC - Ecuador 3
GR - Grecia 3
KH - Cambogia 3
NZ - Nuova Zelanda 3
PL - Polonia 3
PT - Portogallo 3
SA - Arabia Saudita 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
EG - Egitto 2
HR - Croazia 2
LT - Lituania 2
MD - Moldavia 2
MK - Macedonia 2
MX - Messico 2
PE - Perù 2
PK - Pakistan 2
RS - Serbia 2
TN - Tunisia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AZ - Azerbaigian 1
BD - Bangladesh 1
BO - Bolivia 1
CO - Colombia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GE - Georgia 1
ID - Indonesia 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
NI - Nicaragua 1
PH - Filippine 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 11.843
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Città #
Southend 1.461
Fairfield 791
Dublin 777
Chandler 490
Ashburn 438
Houston 425
Jacksonville 369
Santa Clara 357
Wilmington 319
Woodbridge 317
Seattle 305
Cambridge 295
Ann Arbor 204
Siena 173
Princeton 164
Singapore 133
Beijing 131
Nanjing 125
Menlo Park 109
Izmir 69
Boardman 61
Helsinki 60
New York 56
San Diego 52
The Dalles 49
San Mateo 47
Nanchang 40
Milan 38
Shenyang 35
Council Bluffs 33
Dearborn 33
Shanghai 32
Moscow 31
Lappeenranta 30
Hebei 27
Abidjan 25
Dong Ket 25
Los Angeles 23
Norwalk 23
Málaga 22
Munich 21
London 20
Jiaxing 18
Changsha 17
San Francisco 17
Brussels 16
Kunming 15
Tianjin 15
Düsseldorf 13
Nuremberg 13
São Paulo 13
Rome 12
Venezia 12
Fremont 11
Jinan 9
Redwood City 9
Vienna 9
Hong Kong 8
Lancaster 8
Segrate 8
Taizhou 8
Toronto 8
Zhengzhou 8
Bonndorf 7
Brno 7
Dallas 7
Ningbo 7
Renton 7
Belo Horizonte 6
Brasília 6
Florence 6
Poggibonsi 6
Porto Alegre 6
Tappahannock 6
Turin 6
Turku 6
Waanrode 6
Washington 6
Clifton 5
Guangzhou 5
Hangzhou 5
Mestre 5
Misano Adriatico 5
Phoenix 5
Amsterdam 4
Auburn Hills 4
Canberra 4
Changchun 4
Chicago 4
Edinburgh 4
Kocaeli 4
Maceió 4
Olomouc 4
Philadelphia 4
Sofia 4
Stockholm 4
Sydney 4
Acton 3
Atlanta 3
Campinas 3
Totale 8.668
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Nome #
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 257
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy 251
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 243
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study 225
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 223
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 215
MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis 207
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 205
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 203
Exome sequencing reveals VCP mutations as a cause of familial ALS. 197
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients 196
Genetic architecture of ALS in Sardinia 195
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 188
No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population 186
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 181
Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation 179
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia 176
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients 174
Cavernous malformation of the optic nerve mimicking optic neuritis 166
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 165
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD 163
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 163
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype 154
Posterior knee pain: primary symptom of a small non-occlusive venous clot. 153
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene. 149
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis 146
Deep vein thrombosis during varicella in a child with factor V Leiden mutation and familial deficiency of protein S 145
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) 143
Cherry-red spot myoclonus syndrome (type I sialidosis) 143
FUS mutations in sporadic amyotrophic lateral sclerosis 142
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosis patients 141
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation 140
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 138
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation 138
D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings 138
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population 135
Lack of association of PON polymorphisms with sporadic ALS in an Italian population 134
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide 132
Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment 131
ANALYSIS OF THE HYPOXIA-RESPONSE ELEMENT OF THE VASCULAR ENDOTHELIAL GROWTH FACTOR PROMOTER IN SPORADIC ALS PATIENTS 130
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 129
Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene 129
null 128
Molecular basis of late-life globoid cell leukodystrophy 127
A novel SOD1 gene mutation in a familial ALS patient 127
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. 127
Familial hemiplegic migraine: a ion channel disorder 126
null 124
Genetic Variations within Krit1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation 123
Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle 118
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene 118
null 118
Analysis of regulatory regions of macrophage migration inhibitory factor (MIF) gene in Italian ALS patients 116
SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY 116
Mutational analysis of the inhibin alpha gene in preeclamptic women 115
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS 115
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 114
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test 114
null 114
A new Krit1 gene mutation in a family with cerebral cavernous malformation (CCM) associated with intraorbital optic nerve and cutaneous cavernous angiomas 112
Paraoxonase gene polymorphisms and susceptibility to sporadic ALS in Italian population. Preliminary results. 110
Molecular genetic analysis of cerebral cavernous malformations: An update 108
Descrizione di una nuova mutazione del gene Krit1 in una forma familiare di angioma cavernoso cerebrale associata ad angioma ottico e ad angioma cutaneo 106
FUS Mutations in a Large Series of Sporadic and Familial ALS 105
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 105
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 104
Multiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of Globoid cell leukodystrophy 100
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants 100
CACNA1A gene non-synonymous SNPs and common Migraine in Italy: a case-control association study with a micro-array technology. 99
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten 98
The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. 97
Evidence for a founder effect for the Gly41Ser SOD1 gene mutation: report of four amyothrophic lateral sclerosis italian families from central Italy. 96
Molecular genetics of late-onset forms of Krabbe’s disease 94
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 92
Potential role of 11 beta-hydroxysteroid dehydrogenase in human trophoblast-endometrial interactions 91
A novel variant in superoxide dismutase 1 gene (P.V119M) in als patients with pure lower motor neuron presentation 90
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene 84
Molecular genetic features of cerebral cavernous malformations (CCM) patients: An overall view from genes to endothelial cells 84
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 82
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study 81
Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. 79
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 77
Search for candidate genes in common Migraine in the Italian population 76
Genetics of Familial Hemiplegic Migraine: state of the art 71
HNPP-like phenotype in a case of Dunnigan lypodystrophy 71
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 60
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration 58
Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort 51
HFE p.H63D polymorphism does not influence ALS phenotype and survival 50
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations 46
Long-term treatment over 52 weeks with monthly fremanezumab in drug-resistant migraine: a prospective multicenter cohort study 33
The strategy of investigating autistic syndromes in childhood 30
Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target 27
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 19
Effectiveness and tolerability of rimegepant in the acute treatment of migraine: a real-world, prospective, multicentric study (GAINER study) 14
Totale 11.988
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Categoria #
all - tutte 39.208
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 39.208
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020172 0 0 0 0 0 0 0 0 0 0 52 120
2020/20211.672 100 198 58 144 86 167 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
2024/20251.660 69 133 202 118 327 122 55 130 228 92 184 0
Totale 11.988