IRIS
MALASPINA, PATRIZIA
 Distribuzione geografica
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Continente #
NA - Nord America 24.294
EU - Europa 2.966
AS - Asia 2.673
SA - Sud America 478
Continente sconosciuto - Info sul continente non disponibili 236
AF - Africa 74
OC - Oceania 16
Totale 30.737
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Nazione #
US - Stati Uniti d'America 24.080
SG - Singapore 1.114
CN - Cina 566
RU - Federazione Russa 519
IT - Italia 483
BR - Brasile 405
DE - Germania 403
UA - Ucraina 301
HK - Hong Kong 235
VN - Vietnam 223
SE - Svezia 200
IE - Irlanda 199
FR - Francia 195
GB - Regno Unito 188
KR - Corea 164
CA - Canada 141
FI - Finlandia 118
JP - Giappone 81
NL - Olanda 70
PL - Polonia 61
CZ - Repubblica Ceca 59
BD - Bangladesh 51
IN - India 46
ID - Indonesia 43
AT - Austria 36
BE - Belgio 27
ES - Italia 25
ZA - Sudafrica 24
GR - Grecia 23
AR - Argentina 21
IQ - Iraq 18
TR - Turchia 18
MX - Messico 17
IL - Israele 15
AU - Australia 13
CO - Colombia 13
MY - Malesia 13
EC - Ecuador 12
PH - Filippine 12
CH - Svizzera 11
CR - Costa Rica 11
DZ - Algeria 11
JM - Giamaica 11
SC - Seychelles 11
PY - Paraguay 10
GT - Guatemala 9
MA - Marocco 8
SA - Arabia Saudita 8
TH - Thailandia 8
CL - Cile 7
PK - Pakistan 7
CY - Cipro 6
HN - Honduras 6
KG - Kirghizistan 5
LT - Lituania 5
NI - Nicaragua 5
NP - Nepal 5
TW - Taiwan 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
BA - Bosnia-Erzegovina 4
LB - Libano 4
PE - Perù 4
PT - Portogallo 4
RO - Romania 4
RS - Serbia 4
DO - Repubblica Dominicana 3
EG - Egitto 3
ET - Etiopia 3
JO - Giordania 3
LV - Lettonia 3
MT - Malta 3
NG - Nigeria 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
QA - Qatar 3
SK - Slovacchia (Repubblica Slovacca) 3
SV - El Salvador 3
VE - Venezuela 3
BG - Bulgaria 2
BY - Bielorussia 2
EE - Estonia 2
GI - Gibilterra 2
IS - Islanda 2
KE - Kenya 2
KZ - Kazakistan 2
MD - Moldavia 2
TG - Togo 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
A1 - Anonimo 1
AZ - Azerbaigian 1
BF - Burkina Faso 1
BH - Bahrain 1
BO - Bolivia 1
BS - Bahamas 1
CI - Costa d'Avorio 1
DK - Danimarca 1
EU - Europa 1
Totale 30.486
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Città #
Woodbridge 6.127
Wilmington 5.481
Houston 5.054
Singapore 666
Ashburn 625
Fairfield 583
Ann Arbor 491
Chandler 418
San Jose 411
Jacksonville 272
Cambridge 231
Hong Kong 222
Seattle 218
Beijing 209
Council Bluffs 197
Dearborn 196
Dublin 172
Madison 134
New York 133
Medford 132
The Dalles 125
Rome 110
Los Angeles 109
Santa Clara 109
Menlo Park 101
Moscow 85
Boardman 74
Seongnam 72
Tokyo 64
Lawrence 63
Dallas 62
Hanoi 52
Buffalo 51
Mülheim 51
Ho Chi Minh City 50
Helsinki 48
Las Vegas 47
Amsterdam 44
Milan 43
Munich 42
Chicago 40
Falls Church 40
Montreal 39
Phoenix 38
São Paulo 34
London 33
Warsaw 32
Frankfurt am Main 30
San Diego 30
San Mateo 28
Redwood City 27
Nuremberg 26
Brussels 25
Dong Ket 25
Jakarta 25
Columbus 24
Atlanta 22
North Bergen 22
Stockholm 22
Brooklyn 20
Hefei 19
Ottawa 19
Toronto 19
Nanjing 18
Denver 17
Fuzhou 17
Paris 17
Vienna 17
Lauterbourg 16
Seoul 16
University Park 16
Zhengzhou 16
Verona 15
Rio de Janeiro 14
Anaheim 13
Haiphong 13
Naples 13
San Francisco 13
Auburn Hills 11
Colorado Springs 11
Johannesburg 11
Mountain View 11
Guangzhou 10
Kunming 10
Norwalk 10
Turku 10
Boston 9
Istanbul 9
Miami 9
Nanchang 9
Orlando 9
Pune 9
Shanghai 9
Suzhou 9
Washington 9
Baghdad 8
Belo Horizonte 8
Brno 8
Charlotte 8
Kingston 8
Totale 24.449
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Nome #
Population structure in the Mediterranean basin: A Y chromosome perspective 2.261
Y-chromosomal variation in the Czech Republic 1.074
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area 832
Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations 551
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 545
SSADH variation in primates: Intra- and interspecific data on a gene with a potential role in human cognitive functions 538
Alcohol use disorder and GABAB receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies 527
Charge patch attraction and reentrant condensation in DNA-liposome complexes 517
Epidemiological and linkage studies on Huntington's disease in Italy 517
Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects 509
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency 506
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency 491
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 488
Construction of a YAC contig covering human chromosome 6p22 486
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism 486
Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe 485
Genetic characterization of the body attributed to the evangelist Luke 484
Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms 483
Ordering of 44 genetic markers in the 6p22 cytogenetic band 483
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 479
Genetic fitness in Huntington’s Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 477
A further polymorphism of the Gd locus for glucose-6-phosphate dehydrogenase present among blacks (Nigerians) and apparently absent among caucasoids: The quantitative isoelectrophoretic variation of the Gd+ allele 472
A cosmid library specific for human chromosome regions 6p23.1 and 6q27. 472
Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region 471
Differential structuring of human populations for homologous X and Y microsatellite loci 471
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency 465
A human derived SSADH coding variant is replacing the ancestral allele shared with primates. 459
Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4] 454
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) 453
The human Y chromosome shows a low level of DNA polymorphism 453
Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa 452
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci 452
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language 449
Succinic Semialdehyde Dehydrogenase: Biochemical-Molecular-Clinical Disease Mechanisms, Redox Regulation, and Functional Significance 446
Linkage exclusion in Italian families with hereditary Essential Tremor 444
An additional HindIII polymorphism at the coagulation factor XIIIA locus 442
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I 440
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 437
Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology 436
Human succinic semialdeyde dehydrogenase: Molecular cloning and chromosomal localization 432
Disequilibrium of multiple DNA markers on the human Y chromosome 430
Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations 428
Succinic semialdehyde dehydrogenase (SSADH) deficiency: molecular analysis in a southern American family. 427
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability 426
Test genetici e consultori 420
Network analyses of Y-chromosomal types in Europe, Northern Africa, and Western Asia reveal specific patterns of geographic distribution 411
Colour blindness (CB) distribution in the male population of Albanian and Croatian communities of Molise, Italy (with a review of the published Caucasoid CB gene frequencies). 405
SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER 403
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency 401
ON THE ESTIMATION OF THE AGE AT ONSET DISTRIBUTION IN HUNTINGTONS-CHOREA USING THE EM ALGORITHM 399
Variazione del numero dei cromosomi 393
Linkage analysis and linkage disequilibrium studies between SCA1 and TG microsatellite VNTRs on 6p. 390
Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization 386
The EUROGEM map of human chromosome 14. 384
The in vitro activity of the red cell glucose-6-phosphate dehydrogenase (G6PD) and the mch remain constant over long periods of time in healthy adult individuals because they depend only on their genome 375
The geographic distribution of human Y chromosome variation 336
Genetic analysis of the 16 STR loci for human identification in Native Amazonian populations from Perù. 314
Studio delle migrazioni umane recenti in Sud America: analisi genetica delle popolazioni native amazzoniche e miste di Perù 284
Signs of continental ancestry in urban populations of Peru through autosomal STR loci and mitochondrial DNA typing 247
Novel mutations in two unrelated Italian patients with SSADH deficiency 232
GABA catabolism involvement in Alzheimer’s disease: a case-control study of SNPs in ALDH5A1 gene. 208
SSADH variants increase susceptibility of U87 cells to mitochondrial pro-oxidant insult 183
Intestinal Parasites from Wild Boar Populations in Italy: Baseline Data in the Framework of the PRIN PNRR 2022 Project 180
Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease 168
Genetic diversity of the Ig Heavy chain locus in SARS-CoV-2 infection 107
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency 103
Genetic aspects underlying the Normocalcemic and Hypercalcemic phenotypes of Primary Hyperparathyroidism 93
Hydroxytyrosol counteracts triple negative breast cancer cell dissemination via its copper complexing properties 89
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism 89
Variation of the 3’RR1 HS1.2 Enhancer and Its Genomic Context 85
Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2 83
Environmental effects on the lung and gastrointestinal parasite fauna of wild boar: a comparative study between alpine and Mediterranean ecosystems 26
Association between candidate genes and FRAX scores in postmenopausal women 13
Totale 30.737
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Categoria #
all - tutte 66.303
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 66.303
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022772 0 0 0 53 43 109 61 60 92 102 61 191
2022/20231.153 93 96 42 178 99 221 74 76 117 25 98 34
2023/2024639 47 25 38 20 57 154 55 23 52 21 35 112
2024/20252.787 88 394 239 131 100 201 239 173 232 170 665 155
2025/20263.303 278 215 304 233 281 168 416 422 388 265 218 115
2026/20271.115 266 205 592 52 0 0 0 0 0 0 0 0
Totale 30.737