CINECA IRIS Institutional Research Information System

BRUSCO, Alfredo
 Distribuzione geografica
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Continente #
NA - Nord America 29.075
EU - Europa 23.451
AS - Asia 15.953
SA - Sud America 2.260
Continente sconosciuto - Info sul continente non disponibili 1.460
OC - Oceania 406
AF - Africa 361
Totale 72.966
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Nazione #
US - Stati Uniti d'America 27.647
IT - Italia 11.029
SG - Singapore 5.061
CN - Cina 4.821
DE - Germania 2.106
BR - Brasile 1.662
FR - Francia 1.625
VN - Vietnam 1.527
SE - Svezia 1.211
GB - Regno Unito 1.206
IE - Irlanda 1.205
CA - Canada 904
JP - Giappone 890
FI - Finlandia 865
KR - Corea 656
HK - Hong Kong 651
IN - India 636
UA - Ucraina 585
ES - Italia 579
NL - Olanda 570
AT - Austria 527
PL - Polonia 398
AU - Australia 354
BD - Bangladesh 312
TR - Turchia 243
MX - Messico 236
BE - Belgio 234
RU - Federazione Russa 231
AR - Argentina 211
ID - Indonesia 199
CH - Svizzera 189
IQ - Iraq 132
DK - Danimarca 130
TW - Taiwan 128
IL - Israele 124
CO - Colombia 99
ZA - Sudafrica 99
PT - Portogallo 98
RO - Romania 98
CL - Cile 92
GR - Grecia 87
CZ - Repubblica Ceca 78
PK - Pakistan 74
EC - Ecuador 69
JM - Giamaica 68
BA - Bosnia-Erzegovina 67
CR - Costa Rica 63
NO - Norvegia 61
SA - Arabia Saudita 52
NZ - Nuova Zelanda 51
IR - Iran 49
PH - Filippine 45
VE - Venezuela 42
MY - Malesia 41
SI - Slovenia 41
MA - Marocco 39
AE - Emirati Arabi Uniti 37
HU - Ungheria 37
SN - Senegal 37
TH - Thailandia 37
EG - Egitto 31
PE - Perù 31
HN - Honduras 29
JO - Giordania 28
UZ - Uzbekistan 27
RS - Serbia 26
DZ - Algeria 24
PY - Paraguay 24
TN - Tunisia 23
TT - Trinidad e Tobago 23
LT - Lituania 22
EE - Estonia 21
KE - Kenya 21
KZ - Kazakistan 21
KW - Kuwait 20
NP - Nepal 20
LV - Lettonia 19
NI - Nicaragua 18
ET - Etiopia 17
UY - Uruguay 17
BY - Bielorussia 16
OM - Oman 16
GT - Guatemala 15
HR - Croazia 15
LB - Libano 15
NG - Nigeria 15
AZ - Azerbaigian 14
BG - Bulgaria 14
LU - Lussemburgo 13
PR - Porto Rico 13
PS - Palestinian Territory 13
BO - Bolivia 12
CY - Cipro 12
PA - Panama 11
EU - Europa 10
MD - Moldavia 10
SK - Slovacchia (Repubblica Slovacca) 10
SY - Repubblica araba siriana 10
MT - Malta 9
SV - El Salvador 9
Totale 71.359
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Città #
Singapore 2.901
Ashburn 2.711
Chandler 1.857
Beijing 1.696
San Jose 1.621
Santa Clara 1.143
Dublin 1.137
Houston 1.094
Fairfield 1.063
Milan 932
Torino 778
Rome 777
Turin 714
Ann Arbor 646
Woodbridge 533
Redwood City 500
Wilmington 496
Los Angeles 492
Seattle 437
Hong Kong 436
Vienna 431
Cambridge 427
Ho Chi Minh City 424
Council Bluffs 386
Villeurbanne 371
Nyköping 353
Dearborn 350
Munich 348
Hanoi 328
Shanghai 320
The Dalles 320
Columbus 318
Dallas 315
Jacksonville 314
Warsaw 301
New York 291
Lauterbourg 287
Naples 287
Medford 285
Princeton 285
Seoul 281
Tokyo 278
Helsinki 269
Pisa 240
Buffalo 231
São Paulo 220
Hefei 219
Toronto 206
Florence 202
Guangzhou 197
Boardman 196
Boston 181
Bologna 177
Dong Ket 169
Paris 161
Chicago 156
Jakarta 148
Washington 139
Genoa 137
Nanjing 137
London 134
Frankfurt am Main 132
Edinburgh 128
Ottawa 128
Palermo 127
San Diego 127
Bari 125
Fremont 124
Verona 117
Phoenix 109
Madrid 103
Hangzhou 102
Montreal 99
Philadelphia 98
Turku 97
Bengaluru 96
Atlanta 94
Brussels 94
Nuremberg 92
Padova 90
Amsterdam 89
Orem 88
Barcelona 85
Catania 83
Istanbul 83
Chengdu 77
Chennai 77
Moscow 77
Melbourne 73
Silver Spring 73
Wuhan 73
San Francisco 71
Brescia 70
Brooklyn 69
Pittsburgh 67
Sydney 64
Santiago 63
Changsha 62
Da Nang 62
Denver 57
Totale 36.328
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Nome #
Genetica dell'autismo 3.672
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 2.102
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 969
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 935
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 850
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 809
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia 797
Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25 743
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 739
Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali 714
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 700
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 679
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 659
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 622
Mapping the human genetic architecture of COVID-19 610
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 580
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 578
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 549
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 543
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 522
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 512
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 497
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness 479
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie 472
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 462
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 442
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 426
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 425
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 421
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 407
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 397
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 396
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 393
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 386
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 386
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 377
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia 372
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 369
Spinocerebellar Ataxia Type 38. 365
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 362
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 361
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 358
NT5E mutations and arterial calcifications. 352
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 351
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 342
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 341
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) 341
Recessive gene disruptions in autism spectrum disorder 339
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia 338
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 335
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 318
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 318
Trace elements profile in the blood of Huntington’ disease patients 311
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 308
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 306
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 302
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) 298
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 297
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 293
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 292
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study 290
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 288
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28. 285
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 285
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study 281
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. 280
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 274
Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation 268
Novel mutation of SLC20A2 in an Italian patient presenting with migraine. 268
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 268
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 267
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 266
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 260
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment 257
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay 253
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 247
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 245
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 240
Synaptic interactome mining reveals p140cap as a new hub for PSD proteins involved in psychiatric and neurological disorders 239
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 238
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) 237
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 235
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 231
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 231
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28. 227
CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects 225
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency 224
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 224
NIG: Network for Italian Genomes 224
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia 222
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. 220
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 220
Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias 220
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus 218
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 217
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study 217
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 215
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 214
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 214
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations 212
Totale 42.965
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Categoria #
all - tutte 189.780
article - articoli 0
book - libri 0
conference - conferenze 38.714
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 228.494
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20224.813 0 0 0 802 322 363 305 344 339 407 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
2024/202510.179 404 602 546 840 1.666 691 458 629 1.206 814 1.007 1.316
2025/202619.257 1.798 1.029 1.132 1.978 2.092 970 2.698 838 1.683 1.408 994 2.637
2026/20274.885 875 1.498 1.621 891 0 0 0 0 0 0 0 0
Totale 72.966