CINECA IRIS Institutional Research Information System

BRUSCO, Alfredo
 Distribuzione geografica
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Continente #
NA - Nord America 18.154
EU - Europa 16.118
AS - Asia 6.545
SA - Sud America 397
OC - Oceania 319
AF - Africa 101
Continente sconosciuto - Info sul continente non disponibili 11
Totale 41.645
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Nazione #
US - Stati Uniti d'America 17.508
IT - Italia 7.012
CN - Cina 3.020
DE - Germania 1.460
SG - Singapore 1.185
IE - Irlanda 1.174
SE - Svezia 1.143
FR - Francia 1.047
GB - Regno Unito 792
JP - Giappone 609
FI - Finlandia 577
UA - Ucraina 550
CA - Canada 507
AT - Austria 406
KR - Corea 404
ES - Italia 389
PL - Polonia 315
AU - Australia 276
VN - Vietnam 265
NL - Olanda 247
BR - Brasile 238
IN - India 235
BE - Belgio 189
HK - Hong Kong 167
TR - Turchia 148
ID - Indonesia 143
RU - Federazione Russa 125
MX - Messico 118
DK - Danimarca 113
CH - Svizzera 112
IL - Israele 101
TW - Taiwan 99
RO - Romania 70
AR - Argentina 65
PT - Portogallo 61
GR - Grecia 59
BA - Bosnia-Erzegovina 57
CZ - Repubblica Ceca 55
NZ - Nuova Zelanda 43
NO - Norvegia 39
CO - Colombia 38
SN - Senegal 32
ZA - Sudafrica 29
CL - Cile 28
IR - Iran 28
HU - Ungheria 24
SI - Slovenia 19
PK - Pakistan 18
AE - Emirati Arabi Uniti 17
TH - Thailandia 16
RS - Serbia 15
BY - Bielorussia 13
PE - Perù 13
SA - Arabia Saudita 13
CR - Costa Rica 11
PH - Filippine 11
EU - Europa 10
NG - Nigeria 10
MY - Malesia 9
SK - Slovacchia (Repubblica Slovacca) 8
BG - Bulgaria 7
BO - Bolivia 7
CY - Cipro 7
HR - Croazia 7
IQ - Iraq 6
KZ - Kazakistan 6
TN - Tunisia 6
EC - Ecuador 5
JO - Giordania 5
LT - Lituania 5
LU - Lussemburgo 5
LV - Lettonia 5
MK - Macedonia 5
MT - Malta 5
UZ - Uzbekistan 5
CI - Costa d'Avorio 4
EE - Estonia 4
EG - Egitto 4
KW - Kuwait 4
MA - Marocco 4
MO - Macao, regione amministrativa speciale della Cina 4
PR - Porto Rico 4
PS - Palestinian Territory 4
QA - Qatar 4
DZ - Algeria 3
LK - Sri Lanka 3
SC - Seychelles 3
BD - Bangladesh 2
GE - Georgia 2
GT - Guatemala 2
ME - Montenegro 2
MV - Maldive 2
SD - Sudan 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
AN - Antille olandesi 1
BS - Bahamas 1
ET - Etiopia 1
HN - Honduras 1
Totale 41.636
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Città #
Chandler 1.853
Beijing 1.162
Dublin 1.115
Fairfield 1.063
Houston 1.037
Singapore 924
Ashburn 834
Santa Clara 780
Torino 778
Ann Arbor 643
Woodbridge 530
Redwood City 495
Wilmington 491
Cambridge 414
Rome 411
Seattle 408
Milan 406
Vienna 371
Villeurbanne 371
Nyköping 353
Dearborn 349
Turin 349
Jacksonville 296
Princeton 284
Columbus 283
Medford 283
Warsaw 255
Pisa 222
Shanghai 218
Dong Ket 169
Guangzhou 164
Jakarta 136
Boston 135
Toronto 126
Nanjing 124
Naples 124
Boardman 122
Fremont 121
Florence 119
Helsinki 119
New York 119
Ottawa 114
Paris 108
San Diego 101
Los Angeles 99
Genoa 97
Tokyo 91
Bologna 86
Padova 86
Munich 84
Washington 80
Hangzhou 79
London 78
Brussels 75
Edinburgh 74
Palermo 67
Wuhan 64
Chengdu 60
Seoul 59
Verona 58
Bari 57
Philadelphia 57
Melbourne 55
Mountain View 55
Chicago 54
São Paulo 54
Madrid 53
Barcelona 51
Istanbul 49
Changsha 48
Catania 47
Dallas 47
Pavia 47
Bethesda 46
Hong Kong 46
Sydney 45
Hefei 43
Moscow 42
Norwalk 42
Silver Spring 42
Brescia 39
Kunming 39
Phoenix 39
New Haven 37
San Francisco 37
Taipei 37
Zhengzhou 36
Sarajevo 35
Falls Church 34
Jinan 34
Hebei 33
Brisbane 32
Messina 32
Pittsburgh 32
Buenos Aires 31
Nürnberg 31
Buffalo 30
Tainan City 30
Trento 30
Lyndhurst 29
Totale 21.773
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Nome #
Genetica dell'autismo 2.657
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 1.880
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 731
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 687
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 614
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia 598
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 596
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 521
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 504
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 488
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 458
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 456
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 452
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 425
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 418
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 403
Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25 403
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 402
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 396
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 375
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 356
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 356
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 334
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 318
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 316
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 316
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 314
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 299
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 278
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 274
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness 274
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 261
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 258
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia 257
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 257
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 254
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 253
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 245
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 244
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 241
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 233
NT5E mutations and arterial calcifications. 229
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 229
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 225
Mapping the human genetic architecture of COVID-19 216
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) 214
Novel mutation of SLC20A2 in an Italian patient presenting with migraine. 210
Trace elements profile in the blood of Huntington’ disease patients 210
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 209
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 209
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 207
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 206
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 202
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. 200
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28. 200
Recessive gene disruptions in autism spectrum disorder 197
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 196
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 195
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study 195
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 192
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) 189
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 188
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 183
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 182
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 181
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 178
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study 174
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 174
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) 170
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28. 169
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 163
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 160
Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation 159
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 159
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 157
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. 156
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 153
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 152
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 151
Synaptic interactome mining reveals p140cap as a new hub for PSD proteins involved in psychiatric and neurological disorders 151
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 148
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 148
Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias 146
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 145
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 143
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 142
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations 140
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 139
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. 135
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease 133
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 130
Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets 128
O056. Migraine as presenting symptom of SLC20A2gene mutations 127
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia 125
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 125
Altered homeostasis of trace elements in the blood of SCA2 patients 123
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) 121
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript 120
Spinocerebellar Ataxia Type 38. 120
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 119
Totale 29.349
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Categoria #
all - tutte 104.465
article - articoli 0
book - libri 0
conference - conferenze 21.034
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 125.499
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.418 0 0 0 0 0 876 562 411 513 482 316 258
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
2023/20244.941 469 573 346 359 299 505 319 330 106 452 518 665
2024/20254.159 404 602 546 840 1.666 101 0 0 0 0 0 0
Totale 42.804