BRUSCO, Alfredo
 Distribuzione geografica
Continente #
NA - Nord America 16.351
EU - Europa 14.930
AS - Asia 5.001
SA - Sud America 348
OC - Oceania 285
AF - Africa 91
Continente sconosciuto - Info sul continente non disponibili 11
Totale 37.017
Nazione #
US - Stati Uniti d'America 15.764
IT - Italia 6.254
CN - Cina 2.690
DE - Germania 1.361
IE - Irlanda 1.171
SE - Svezia 1.139
FR - Francia 993
GB - Regno Unito 715
JP - Giappone 586
UA - Ucraina 550
FI - Finlandia 547
CA - Canada 459
AT - Austria 400
KR - Corea 396
ES - Italia 374
PL - Polonia 313
VN - Vietnam 264
AU - Australia 248
SG - Singapore 230
IN - India 223
NL - Olanda 210
BR - Brasile 204
BE - Belgio 178
HK - Hong Kong 149
TR - Turchia 123
DK - Danimarca 113
MX - Messico 108
CH - Svizzera 101
IL - Israele 91
TW - Taiwan 89
RU - Federazione Russa 85
RO - Romania 63
AR - Argentina 62
BA - Bosnia-Erzegovina 57
PT - Portogallo 57
GR - Grecia 53
CZ - Repubblica Ceca 45
CO - Colombia 38
NZ - Nuova Zelanda 37
NO - Norvegia 35
SN - Senegal 30
ZA - Sudafrica 29
CL - Cile 25
IR - Iran 25
HU - Ungheria 22
SI - Slovenia 19
ID - Indonesia 16
PK - Pakistan 16
TH - Thailandia 16
BY - Bielorussia 13
RS - Serbia 12
SA - Arabia Saudita 11
CR - Costa Rica 10
EU - Europa 10
NG - Nigeria 10
AE - Emirati Arabi Uniti 9
MY - Malesia 9
PH - Filippine 8
SK - Slovacchia (Repubblica Slovacca) 8
BG - Bulgaria 7
CY - Cipro 7
HR - Croazia 7
PE - Perù 7
TN - Tunisia 6
EC - Ecuador 5
IQ - Iraq 5
JO - Giordania 5
MK - Macedonia 5
MT - Malta 5
BO - Bolivia 4
EE - Estonia 4
EG - Egitto 4
KW - Kuwait 4
LV - Lettonia 4
PR - Porto Rico 4
PS - Palestinian Territory 4
QA - Qatar 4
UZ - Uzbekistan 4
DZ - Algeria 3
KZ - Kazakistan 3
LK - Sri Lanka 3
LT - Lituania 3
LU - Lussemburgo 3
MO - Macao, regione amministrativa speciale della Cina 3
SC - Seychelles 3
BD - Bangladesh 2
GT - Guatemala 2
MA - Marocco 2
ME - Montenegro 2
MV - Maldive 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
AN - Antille olandesi 1
BS - Bahamas 1
ET - Etiopia 1
GE - Georgia 1
HN - Honduras 1
IS - Islanda 1
LB - Libano 1
Totale 37.010
Città #
Chandler 1.853
Beijing 1.134
Dublin 1.113
Fairfield 1.063
Houston 1.028
Ashburn 798
Torino 778
Ann Arbor 643
Woodbridge 530
Redwood City 495
Wilmington 491
Cambridge 414
Seattle 406
Villeurbanne 371
Vienna 369
Nyköping 353
Dearborn 349
Rome 338
Milan 306
Jacksonville 296
Medford 283
Princeton 280
Turin 271
Warsaw 253
Pisa 222
Shanghai 193
Dong Ket 169
Guangzhou 132
Boston 128
Fremont 121
Singapore 120
Boardman 119
Toronto 111
Ottawa 110
New York 109
Paris 102
Naples 101
Florence 100
San Diego 100
Helsinki 95
Nanjing 92
Los Angeles 90
Genoa 88
Tokyo 86
Padova 77
Washington 77
Bologna 76
Hangzhou 76
London 69
Brussels 66
Edinburgh 64
Wuhan 60
Seoul 58
Mountain View 55
Palermo 53
Bari 52
Chengdu 51
Philadelphia 50
Madrid 49
Verona 49
Barcelona 47
Dallas 47
Pavia 47
Catania 43
Changsha 43
Hefei 43
Hong Kong 43
Norwalk 42
São Paulo 42
Bethesda 41
Chicago 41
Istanbul 41
Melbourne 41
Silver Spring 40
Kunming 39
Phoenix 39
Munich 38
New Haven 37
San Francisco 36
Taipei 36
Sarajevo 35
Falls Church 34
Jinan 34
Zhengzhou 34
Hebei 33
Sydney 33
Brisbane 32
Messina 32
Pittsburgh 32
Brescia 31
Nürnberg 31
Buffalo 30
Tainan City 30
Trento 30
Lyndhurst 29
Buenos Aires 28
Napoli 28
Stuttgart 28
Central District 27
Irvine 27
Totale 19.029
Nome #
Genetica dell'autismo 2.352
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 1.855
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 702
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 624
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 593
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia 565
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 547
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 496
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 469
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 442
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 428
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 426
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 411
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 398
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype 384
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 383
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 351
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 351
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 350
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 316
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 311
Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25 308
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 305
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 300
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 298
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 297
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 279
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 272
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 265
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 256
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide 248
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 245
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 241
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 240
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 238
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia 236
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 224
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 223
NT5E mutations and arterial calcifications. 221
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 218
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 218
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness 218
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 212
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 205
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) 204
Novel mutation of SLC20A2 in an Italian patient presenting with migraine. 202
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 200
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 198
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. 196
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 196
Trace elements profile in the blood of Huntington’ disease patients 193
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 192
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 192
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 185
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28. 183
Recessive gene disruptions in autism spectrum disorder 178
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 177
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study 176
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 173
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 171
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 170
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) 170
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 169
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 168
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) 165
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study 157
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia 155
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. 151
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28. 151
Mapping the human genetic architecture of COVID-19 151
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 150
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 148
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 146
Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation 142
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 142
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 141
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 141
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 139
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 139
Synaptic interactome mining reveals p140cap as a new hub for PSD proteins involved in psychiatric and neurological disorders 133
Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias 132
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 131
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 128
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 127
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 127
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations 127
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 125
Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets 121
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia 121
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease 120
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 118
O056. Migraine as presenting symptom of SLC20A2gene mutations 118
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 117
Altered homeostasis of trace elements in the blood of SCA2 patients 116
Spinocerebellar Ataxia Type 38. 111
Messanger RNA processing is altered in autosomal dominant leukodystrophy. 111
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 109
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment 109
A rare craniosynostosis associated with an atypical 22q11 microdeletion 108
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 108
Totale 26.949
Categoria #
all - tutte 86.969
article - articoli 0
book - libri 0
conference - conferenze 17.677
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 104.646


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019362 0 0 0 0 0 0 0 0 0 0 0 362
2019/20205.106 291 241 255 559 342 876 562 411 513 482 316 258
2020/20216.270 310 454 577 596 675 633 776 402 425 442 360 620
2021/20225.731 279 272 367 802 322 363 305 344 339 407 1.100 831
2022/20237.376 574 558 298 662 671 1.411 576 589 890 346 444 357
2023/20244.461 469 573 346 359 299 505 319 330 106 452 518 185
Totale 38.165