IRIS
BATTISTINI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.260
EU - Europa 4.554
AS - Asia 902
AF - Africa 28
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 8
SA - Sud America 7
Totale 10.772
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Nazione #
US - Stati Uniti d'America 5.243
GB - Regno Unito 1.549
IE - Irlanda 778
CN - Cina 539
UA - Ucraina 447
SE - Svezia 430
IT - Italia 356
RU - Federazione Russa 303
FR - Francia 215
DE - Germania 210
FI - Finlandia 161
SG - Singapore 157
TR - Turchia 78
KR - Corea 75
CI - Costa d'Avorio 25
VN - Vietnam 25
ES - Italia 24
BE - Belgio 21
NL - Olanda 21
CA - Canada 16
CZ - Repubblica Ceca 11
AU - Australia 10
EU - Europa 7
IL - Israele 6
IN - India 4
IR - Iran 4
JP - Giappone 4
BG - Bulgaria 3
BR - Brasile 3
KH - Cambogia 3
NZ - Nuova Zelanda 3
PL - Polonia 3
RO - Romania 3
SA - Arabia Saudita 3
AT - Austria 2
EC - Ecuador 2
GR - Grecia 2
HR - Croazia 2
LT - Lituania 2
MD - Moldavia 2
MK - Macedonia 2
PT - Portogallo 2
RS - Serbia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BO - Bolivia 1
CH - Svizzera 1
DO - Repubblica Dominicana 1
EG - Egitto 1
HK - Hong Kong 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 10.772
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Città #
Southend 1.461
Fairfield 791
Dublin 775
Chandler 490
Ashburn 436
Houston 425
Jacksonville 369
Wilmington 319
Woodbridge 317
Seattle 305
Cambridge 295
Ann Arbor 204
Siena 171
Princeton 164
Beijing 131
Nanjing 125
Singapore 122
Menlo Park 109
Izmir 68
Boardman 61
Helsinki 57
New York 54
San Diego 52
San Mateo 47
Nanchang 40
Shenyang 35
Dearborn 33
Shanghai 32
Lappeenranta 30
Moscow 30
Hebei 27
Abidjan 25
Dong Ket 25
Norwalk 23
Málaga 22
Milan 21
Jiaxing 18
Changsha 17
Los Angeles 17
San Francisco 16
Brussels 15
Kunming 15
London 15
Tianjin 15
Munich 14
Venezia 12
Fremont 11
Düsseldorf 10
Jinan 9
Redwood City 9
Rome 9
Lancaster 8
Segrate 8
Taizhou 8
Toronto 8
Bonndorf 7
Brno 7
Dallas 7
Ningbo 7
Renton 7
Zhengzhou 7
Florence 6
Poggibonsi 6
Tappahannock 6
Turin 6
Waanrode 6
Clifton 5
Guangzhou 5
Hangzhou 5
Mestre 5
Misano Adriatico 5
Washington 5
Amsterdam 4
Auburn Hills 4
Canberra 4
Changchun 4
Chicago 4
Edinburgh 4
Kocaeli 4
Olomouc 4
Philadelphia 4
Stockholm 4
Sydney 4
Acton 3
Atlanta 3
Falls Church 3
Haikou 3
Nuremberg 3
Nürnberg 3
Parma 3
Phoenix 3
Pisa 3
Saint Petersburg 3
San Antonio 3
Santa Clara 3
Sofia 3
Tokyo 3
Vancouver 3
Abbasanta 2
Albignasego 2
Totale 8.120
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Nome #
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 243
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy 241
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 233
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 214
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study 211
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 206
MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis 194
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 188
Exome sequencing reveals VCP mutations as a cause of familial ALS. 188
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 186
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients 185
Genetic architecture of ALS in Sardinia 183
No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population 179
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 174
Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation 168
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 166
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients 164
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 158
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia 157
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 153
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD 148
Cavernous malformation of the optic nerve mimicking optic neuritis 148
Posterior knee pain: primary symptom of a small non-occlusive venous clot. 146
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype 141
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene. 138
Cherry-red spot myoclonus syndrome (type I sialidosis) 135
Deep vein thrombosis during varicella in a child with factor V Leiden mutation and familial deficiency of protein S 134
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis 133
FUS mutations in sporadic amyotrophic lateral sclerosis 131
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) 131
D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings 131
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosis patients 129
null 128
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation 127
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation 127
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population 126
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 126
null 124
Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment 122
Lack of association of PON polymorphisms with sporadic ALS in an Italian population 121
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 121
Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene 121
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide 121
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. 119
Molecular basis of late-life globoid cell leukodystrophy 118
null 118
A novel SOD1 gene mutation in a familial ALS patient 117
Familial hemiplegic migraine: a ion channel disorder 116
ANALYSIS OF THE HYPOXIA-RESPONSE ELEMENT OF THE VASCULAR ENDOTHELIAL GROWTH FACTOR PROMOTER IN SPORADIC ALS PATIENTS 115
null 114
Genetic Variations within Krit1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation 112
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 108
Mutational analysis of the inhibin alpha gene in preeclamptic women 108
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene 108
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test 106
Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle 106
Analysis of regulatory regions of macrophage migration inhibitory factor (MIF) gene in Italian ALS patients 106
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS 102
Paraoxonase gene polymorphisms and susceptibility to sporadic ALS in Italian population. Preliminary results. 101
SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY 101
FUS Mutations in a Large Series of Sporadic and Familial ALS 99
A new Krit1 gene mutation in a family with cerebral cavernous malformation (CCM) associated with intraorbital optic nerve and cutaneous cavernous angiomas 98
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 93
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 92
Descrizione di una nuova mutazione del gene Krit1 in una forma familiare di angioma cavernoso cerebrale associata ad angioma ottico e ad angioma cutaneo 91
The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. 91
Multiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of Globoid cell leukodystrophy 91
Evidence for a founder effect for the Gly41Ser SOD1 gene mutation: report of four amyothrophic lateral sclerosis italian families from central Italy. 90
CACNA1A gene non-synonymous SNPs and common Migraine in Italy: a case-control association study with a micro-array technology. 86
Molecular genetics of late-onset forms of Krabbe’s disease 85
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten 83
Potential role of 11 beta-hydroxysteroid dehydrogenase in human trophoblast-endometrial interactions 82
Molecular genetic analysis of cerebral cavernous malformations: An update 79
Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. 73
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 72
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants 72
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study 71
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 70
Search for candidate genes in common Migraine in the Italian population 68
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene 68
A novel variant in superoxide dismutase 1 gene (P.V119M) in als patients with pure lower motor neuron presentation 67
Genetics of Familial Hemiplegic Migraine: state of the art 64
HNPP-like phenotype in a case of Dunnigan lypodystrophy 64
Molecular genetic features of cerebral cavernous malformations (CCM) patients: An overall view from genes to endothelial cells 64
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 61
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 48
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration 42
HFE p.H63D polymorphism does not influence ALS phenotype and survival 41
Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort 38
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations 31
The strategy of investigating autistic syndromes in childhood 23
Long-term treatment over 52 weeks with monthly fremanezumab in drug-resistant migraine: a prospective multicenter cohort study 18
Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target 16
Totale 10.906
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Categoria #
all - tutte 34.025
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 34.025
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.376 0 0 0 0 200 188 170 284 201 161 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
2024/2025578 69 133 202 118 56 0 0 0 0 0 0 0
Totale 10.906