BRUSCO, Alfredo
 Distribuzione geografica
Continente #
NA - Nord America 8.122
EU - Europa 5.355
AS - Asia 2.318
OC - Oceania 191
SA - Sud America 161
AF - Africa 107
Continente sconosciuto - Info sul continente non disponibili 6
Totale 16.260
Nazione #
US - Stati Uniti d'America 7.832
IT - Italia 1.669
CN - Cina 1.109
DE - Germania 1.014
GB - Regno Unito 450
FR - Francia 423
JP - Giappone 256
CA - Canada 248
ES - Italia 239
CZ - Repubblica Ceca 227
IN - India 206
RU - Federazione Russa 174
VN - Vietnam 172
NL - Olanda 169
AU - Australia 158
KR - Corea 143
PL - Polonia 124
FI - Finlandia 92
CH - Svizzera 88
IE - Irlanda 87
HK - Hong Kong 79
DK - Danimarca 78
AT - Austria 75
TR - Turchia 70
PT - Portogallo 68
ZA - Sudafrica 68
BE - Belgio 61
BR - Brasile 60
RO - Romania 58
IL - Israele 54
GR - Grecia 47
CL - Cile 46
SE - Svezia 46
UA - Ucraina 45
TW - Taiwan 41
MX - Messico 35
NZ - Nuova Zelanda 33
AR - Argentina 32
IR - Iran 29
ID - Indonesia 25
SG - Singapore 22
NO - Norvegia 21
PK - Pakistan 19
BA - Bosnia-Erzegovina 18
CO - Colombia 17
AE - Emirati Arabi Uniti 14
LB - Libano 14
LT - Lituania 14
SA - Arabia Saudita 12
SI - Slovenia 12
HU - Ungheria 11
KE - Kenya 11
LV - Lettonia 8
HR - Croazia 7
NG - Nigeria 7
TH - Thailandia 7
RS - Serbia 6
BG - Bulgaria 5
MY - Malesia 5
NP - Nepal 5
PH - Filippine 5
QA - Qatar 5
EE - Estonia 4
JO - Giordania 4
PR - Porto Rico 4
SK - Slovacchia (Repubblica Slovacca) 4
TN - Tunisia 4
AL - Albania 3
BH - Bahrain 3
CY - Cipro 3
EG - Egitto 3
EU - Europa 3
IQ - Iraq 3
MA - Marocco 3
PE - Perù 3
SC - Seychelles 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BD - Bangladesh 2
BF - Burkina Faso 2
BY - Bielorussia 2
CU - Cuba 2
DZ - Algeria 2
EC - Ecuador 2
KH - Cambogia 2
LK - Sri Lanka 2
ME - Montenegro 2
MK - Macedonia 2
PS - Palestinian Territory 2
UZ - Uzbekistan 2
A1 - Anonimo 1
BJ - Benin 1
BS - Bahamas 1
ET - Etiopia 1
IS - Islanda 1
KW - Kuwait 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MO - Macao, regione amministrativa speciale della Cina 1
MU - Mauritius 1
UG - Uganda 1
Totale 16.259
Città #
Fairfield 740
Ashburn 720
Houston 622
Woodbridge 458
Torino 390
Santa Cruz 388
Buffalo 374
Seattle 353
Beijing 311
Ann Arbor 307
Cambridge 278
Wilmington 263
Turin 166
Dong Ket 128
San Diego 110
Shanghai 108
University Park 107
Columbus 106
Boardman 100
Hangzhou 95
Chicago 91
Wuhan 84
Warsaw 83
Milan 77
Rome 70
Nürnberg 69
Los Angeles 64
Mountain View 61
Pisa 61
Paris 60
New York 58
Tokyo 58
Vienna 55
Las Vegas 53
Helsinki 50
Ottawa 50
Lyngby 48
Bengaluru 46
Toronto 46
Genoa 45
Muizenberg 44
Guangzhou 43
London 42
Dublin 41
Barcelona 39
Leawood 39
Phoenix 36
Clearwater 35
Bologna 34
Mumbai 34
Nanjing 33
Shenyang 33
Chengdu 31
Lake Forest 31
Dallas 29
Richmond 29
San Francisco 29
Madrid 28
Pittsburgh 28
Seoul 28
Zaragoza 28
Melbourne 27
Rochester 27
Brisbane 25
San Jose 25
Changsha 24
Taipei 23
Lappeenranta 22
Brescia 21
Moscow 21
Santiago 21
Bethesda 20
Birmingham 20
Henderson 20
Istanbul 20
Madison 20
Berlin 19
Amsterdam 18
Edinburgh 18
Irvine 18
Kildare 18
Nijmegen 18
Parsippany 18
Xian 18
Pavia 17
Boston 16
Cardiff 16
Central District 16
Lyndhurst 16
Padova 16
Provo 16
Riva 16
Tappahannock 16
Ankara 15
Buenos Aires 15
Fleming Island 15
Florence 15
Lausanne 15
New Haven 15
Philadelphia 15
Totale 8.798
Nome #
NT5E mutations and arterial calcifications., file e27ce426-d98c-2581-e053-d805fe0acbaa 968
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy, file e27ce426-e5c1-2581-e053-d805fe0acbaa 570
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-a9c8-2581-e053-d805fe0acbaa 557
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce428-b474-2581-e053-d805fe0acbaa 471
Spinocerebellar Ataxia Type 38., file e27ce42e-7dee-2581-e053-d805fe0acbaa 428
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42f-3632-2581-e053-d805fe0acbaa 397
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders, file e27ce42e-c8b5-2581-e053-d805fe0acbaa 346
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa 336
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce427-8f63-2581-e053-d805fe0acbaa 333
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia, file e27ce427-895f-2581-e053-d805fe0acbaa 314
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file e27ce42b-ea0f-2581-e053-d805fe0acbaa 312
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids, file e27ce427-9184-2581-e053-d805fe0acbaa 306
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations, file e27ce42f-b752-2581-e053-d805fe0acbaa 291
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans, file e27ce428-ba09-2581-e053-d805fe0acbaa 278
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay, file e27ce426-e5c0-2581-e053-d805fe0acbaa 274
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia, file e27ce42b-61fd-2581-e053-d805fe0acbaa 245
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus, file e27ce432-a762-2581-e053-d805fe0acbaa 244
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification, file e27ce42c-0e79-2581-e053-d805fe0acbaa 229
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation., file e27ce427-102a-2581-e053-d805fe0acbaa 226
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia, file e27ce427-88f8-2581-e053-d805fe0acbaa 216
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness, file e27ce432-e19e-2581-e053-d805fe0acbaa 214
Novel mutation of SLC20A2 in an Italian patient presenting with migraine., file e27ce428-b481-2581-e053-d805fe0acbaa 204
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities, file e27ce432-e19d-2581-e053-d805fe0acbaa 186
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy, file e27ce426-ad1d-2581-e053-d805fe0acbaa 184
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study, file e27ce42c-b972-2581-e053-d805fe0acbaa 182
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, file e27ce42b-f0f5-2581-e053-d805fe0acbaa 180
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome., file e27ce426-d98d-2581-e053-d805fe0acbaa 178
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), file e27ce428-b4d6-2581-e053-d805fe0acbaa 177
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38), file e27ce428-ecdd-2581-e053-d805fe0acbaa 176
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa 166
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38, file e27ce42b-deae-2581-e053-d805fe0acbaa 165
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file e27ce42e-5913-2581-e053-d805fe0acbaa 162
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals, file e27ce42f-76b4-2581-e053-d805fe0acbaa 159
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file e27ce428-4d69-2581-e053-d805fe0acbaa 158
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file e27ce430-4df5-2581-e053-d805fe0acbaa 157
Small supernumerary marker chromosomes: A legacy of trisomy rescue?, file e27ce42e-0a7c-2581-e053-d805fe0acbaa 154
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO), file e27ce426-e5c2-2581-e053-d805fe0acbaa 153
Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation, file e27ce426-e814-2581-e053-d805fe0acbaa 148
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes, file e27ce42e-4e01-2581-e053-d805fe0acbaa 148
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-cd02-2581-e053-d805fe0acbaa 146
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells, file e27ce42c-5e51-2581-e053-d805fe0acbaa 143
Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation, file e27ce426-e815-2581-e053-d805fe0acbaa 140
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development, file e27ce42b-147b-2581-e053-d805fe0acbaa 140
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes., file e27ce426-daed-2581-e053-d805fe0acbaa 139
Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25, file c9148d46-6cc1-49ee-b464-7f62ea483047 136
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa 136
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42e-1afb-2581-e053-d805fe0acbaa 136
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein, file e27ce428-ba0c-2581-e053-d805fe0acbaa 134
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease, file e27ce426-bf0b-2581-e053-d805fe0acbaa 127
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways, file e27ce426-fbbf-2581-e053-d805fe0acbaa 124
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases, file e27ce435-2291-2581-e053-d805fe0acbaa 117
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD), file e27ce431-e30b-2581-e053-d805fe0acbaa 113
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity., file e27ce427-30b4-2581-e053-d805fe0acbaa 111
Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b1-2581-e053-d805fe0acbaa 111
Synaptic interactome mining reveals p140cap as a new hub for PSD proteins involved in psychiatric and neurological disorders, file e27ce42c-3d43-2581-e053-d805fe0acbaa 110
Mitochondrial stress response triggered by defects in protein synthesis quality control, file e27ce42d-a4a1-2581-e053-d805fe0acbaa 108
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48, file e27ce435-0114-2581-e053-d805fe0acbaa 108
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file e27ce42f-0c09-2581-e053-d805fe0acbaa 105
CNV analysis in 169 patients with bladder exstrophy-epispadias complex, file e27ce428-b6d6-2581-e053-d805fe0acbaa 101
O056. Migraine as presenting symptom of SLC20A2gene mutations, file e27ce42c-19a3-2581-e053-d805fe0acbaa 101
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q, file e27ce42b-129b-2581-e053-d805fe0acbaa 95
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17, file e27ce42d-6142-2581-e053-d805fe0acbaa 95
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient, file e27ce430-d206-2581-e053-d805fe0acbaa 94
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, file e27ce426-e5be-2581-e053-d805fe0acbaa 91
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-238b-2581-e053-d805fe0acbaa 90
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism, file e27ce42e-4c48-2581-e053-d805fe0acbaa 87
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy, file e27ce42d-c9ae-2581-e053-d805fe0acbaa 85
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency, file e27ce42b-f8e9-2581-e053-d805fe0acbaa 84
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42f-7661-2581-e053-d805fe0acbaa 82
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file e27ce426-fbc1-2581-e053-d805fe0acbaa 81
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, file e27ce426-e10a-2581-e053-d805fe0acbaa 79
Messanger RNA processing is altered in autosomal dominant leukodystrophy., file e27ce427-699a-2581-e053-d805fe0acbaa 79
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-ae49-2581-e053-d805fe0acbaa 79
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples, file e27ce429-adb7-2581-e053-d805fe0acbaa 78
SLC20A1 Is Involved in Urinary Tract and Urorectal Development, file e27ce430-5ddb-2581-e053-d805fe0acbaa 78
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce431-7ebb-2581-e053-d805fe0acbaa 78
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file e27ce430-3932-2581-e053-d805fe0acbaa 77
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice, file e27ce42c-3d45-2581-e053-d805fe0acbaa 76
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations, file e27ce42c-284a-2581-e053-d805fe0acbaa 75
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42e-30bf-2581-e053-d805fe0acbaa 74
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity, file e27ce433-6110-2581-e053-d805fe0acbaa 74
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy, file e27ce430-bd0d-2581-e053-d805fe0acbaa 73
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04b-2581-e053-d805fe0acbaa 71
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, file e27ce426-e5bc-2581-e053-d805fe0acbaa 70
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript, file e27ce42c-3185-2581-e053-d805fe0acbaa 66
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study, file e27ce42e-a46f-2581-e053-d805fe0acbaa 66
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM), file 62b89b52-d257-4b52-8ffd-1fc5084688a7 64
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5), file e27ce430-b008-2581-e053-d805fe0acbaa 64
Missense variant contribution to USP9X-female syndrome, file e27ce430-d213-2581-e053-d805fe0acbaa 64
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia, file e27ce42e-47b3-2581-e053-d805fe0acbaa 63
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question, file e27ce432-483f-2581-e053-d805fe0acbaa 62
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3., file e27ce427-99e9-2581-e053-d805fe0acbaa 61
Trace elements profile in the blood of Huntington’ disease patients, file e27ce42f-95d4-2581-e053-d805fe0acbaa 58
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce435-5c41-2581-e053-d805fe0acbaa 56
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-a9d2-2581-e053-d805fe0acbaa 51
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder, file e27ce42c-4a3b-2581-e053-d805fe0acbaa 43
Elovl5 is required for proper action potential conduction along peripheral myelinated fibers, file e27ce432-38a6-2581-e053-d805fe0acbaa 42
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity, file e27ce432-fea9-2581-e053-d805fe0acbaa 40
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file e27ce427-1178-2581-e053-d805fe0acbaa 39
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42e-385f-2581-e053-d805fe0acbaa 39
Totale 16.001
Categoria #
all - tutte 25.975
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 25.975


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019262 0 0 0 0 0 0 0 0 0 0 0 262
2019/20202.523 224 157 151 320 194 207 192 244 275 202 187 170
2020/20213.258 128 327 277 249 300 262 297 296 262 303 255 302
2021/20223.903 319 224 243 491 477 249 248 298 303 253 558 240
2022/20233.022 149 205 519 463 216 234 331 229 187 230 182 77
2023/20241.250 68 60 102 37 112 94 324 113 51 81 176 32
Totale 16.847