IRIS
BATTISTINI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.215
EU - Europa 4.329
AS - Asia 802
AF - Africa 27
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 8
SA - Sud America 7
Totale 10.400
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Nazione #
US - Stati Uniti d'America 5.200
GB - Regno Unito 1.547
IE - Irlanda 777
CN - Cina 528
UA - Ucraina 447
SE - Svezia 430
IT - Italia 342
FR - Francia 215
DE - Germania 201
FI - Finlandia 154
RU - Federazione Russa 112
TR - Turchia 78
KR - Corea 75
SG - Singapore 70
CI - Costa d'Avorio 25
VN - Vietnam 25
ES - Italia 24
BE - Belgio 21
NL - Olanda 21
CA - Canada 15
CZ - Repubblica Ceca 11
AU - Australia 9
EU - Europa 7
IL - Israele 6
IN - India 4
IR - Iran 4
BG - Bulgaria 3
BR - Brasile 3
JP - Giappone 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
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
HK - Hong Kong 1
KZ - Kazakistan 1
LT - Lituania 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 10.400
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Città #
Southend 1.461
Fairfield 791
Dublin 774
Chandler 490
Ashburn 431
Houston 425
Jacksonville 369
Wilmington 319
Woodbridge 317
Seattle 305
Cambridge 295
Ann Arbor 204
Siena 171
Princeton 164
Beijing 130
Nanjing 125
Menlo Park 109
Izmir 68
Boardman 61
Helsinki 53
New York 52
San Diego 52
San Mateo 47
Singapore 46
Nanchang 40
Shenyang 35
Dearborn 33
Shanghai 32
Moscow 30
Hebei 27
Lappeenranta 27
Abidjan 25
Dong Ket 25
Norwalk 23
Málaga 22
Jiaxing 18
Changsha 17
Milan 17
San Francisco 16
Brussels 15
Kunming 15
London 14
Tianjin 14
Venezia 12
Fremont 11
Los Angeles 11
Düsseldorf 10
Jinan 9
Redwood City 9
Lancaster 8
Rome 8
Segrate 8
Taizhou 8
Bonndorf 7
Brno 7
Dallas 7
Ningbo 7
Renton 7
Toronto 7
Zhengzhou 7
Florence 6
Poggibonsi 6
Tappahannock 6
Waanrode 6
Clifton 5
Guangzhou 5
Hangzhou 5
Mestre 5
Misano Adriatico 5
Munich 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
Sofia 3
Tokyo 3
Vancouver 3
Abbasanta 2
Albignasego 2
Baotou 2
Belgrade 2
Totale 8.000
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Nome #
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy 239
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 238
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 229
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 210
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study 206
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 203
Exome sequencing reveals VCP mutations as a cause of familial ALS. 185
MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis 184
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 183
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 182
Genetic architecture of ALS in Sardinia 182
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients 181
No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population 174
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 168
Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation 167
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients 161
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 159
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 157
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 151
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia 150
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD 142
Cavernous malformation of the optic nerve mimicking optic neuritis 139
Posterior knee pain: primary symptom of a small non-occlusive venous clot. 138
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype 135
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene. 133
Cherry-red spot myoclonus syndrome (type I sialidosis) 132
FUS mutations in sporadic amyotrophic lateral sclerosis 128
null 128
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis 127
Deep vein thrombosis during varicella in a child with factor V Leiden mutation and familial deficiency of protein S 127
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) 127
D90A-SOD1 mutation in ALS: The first report of heterozigous Italian patients and unusual findings 127
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation 125
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population 124
null 124
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 123
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosis patients 123
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation 122
Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene 120
Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment 119
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 119
null 118
Lack of association of PON polymorphisms with sporadic ALS in an Italian population 116
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family. 116
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide 116
Familial hemiplegic migraine: a ion channel disorder 114
null 114
Molecular basis of late-life globoid cell leukodystrophy 113
Genetic Variations within Krit1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation 110
A novel SOD1 gene mutation in a familial ALS patient 109
ANALYSIS OF THE HYPOXIA-RESPONSE ELEMENT OF THE VASCULAR ENDOTHELIAL GROWTH FACTOR PROMOTER IN SPORADIC ALS PATIENTS 108
Mutational analysis of the inhibin alpha gene in preeclamptic women 107
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 106
Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle 104
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene 104
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test 103
Analysis of regulatory regions of macrophage migration inhibitory factor (MIF) gene in Italian ALS patients 99
Paraoxonase gene polymorphisms and susceptibility to sporadic ALS in Italian population. Preliminary results. 97
FUS Mutations in a Large Series of Sporadic and Familial ALS 96
SOD1 GENE MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE ITALIAN STUDY 96
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS 95
A new Krit1 gene mutation in a family with cerebral cavernous malformation (CCM) associated with intraorbital optic nerve and cutaneous cavernous angiomas 93
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 91
Evidence for a founder effect for the Gly41Ser SOD1 gene mutation: report of four amyothrophic lateral sclerosis italian families from central Italy. 89
Multiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of Globoid cell leukodystrophy 89
The” D90A” still an enigma among SOD1 gene mutations. Report of three italian cases. 88
Descrizione di una nuova mutazione del gene Krit1 in una forma familiare di angioma cavernoso cerebrale associata ad angioma ottico e ad angioma cutaneo 85
Molecular genetics of late-onset forms of Krabbe’s disease 83
Potential role of 11 beta-hydroxysteroid dehydrogenase in human trophoblast-endometrial interactions 81
CACNA1A gene non-synonymous SNPs and common Migraine in Italy: a case-control association study with a micro-array technology. 80
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten 78
Phenotipic-genotypic study of amyothrophic lateral sclerosis Italian families with the G41S SOD1 gene mutation. 72
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study 69
Molecular genetic analysis of cerebral cavernous malformations: An update 68
Search for candidate genes in common Migraine in the Italian population 67
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 67
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 66
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene 65
Genetics of Familial Hemiplegic Migraine: state of the art 63
HNPP-like phenotype in a case of Dunnigan lypodystrophy 63
A novel variant in superoxide dismutase 1 gene (P.V119M) in als patients with pure lower motor neuron presentation 62
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants 62
Molecular genetic features of cerebral cavernous malformations (CCM) patients: An overall view from genes to endothelial cells 56
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 54
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 43
HFE p.H63D polymorphism does not influence ALS phenotype and survival 36
Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort 34
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration 31
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations 24
The strategy of investigating autistic syndromes in childhood 23
Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target 14
Long-term treatment over 52 weeks with monthly fremanezumab in drug-resistant migraine: a prospective multicenter cohort study 13
Totale 10.534
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Categoria #
all - tutte 31.938
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 31.938
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.909 0 0 166 367 200 188 170 284 201 161 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
2024/2025206 69 133 4 0 0 0 0 0 0 0 0 0
Totale 10.534