IRIS
MALASPINA, PATRIZIA
 Distribuzione geografica
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Continente #
NA - Nord America 23.044
EU - Europa 2.865
AS - Asia 2.612
SA - Sud America 458
AF - Africa 72
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 3
Totale 29.069
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Nazione #
US - Stati Uniti d'America 22.891
SG - Singapore 1.111
CN - Cina 553
RU - Federazione Russa 519
DE - Germania 403
IT - Italia 403
BR - Brasile 397
UA - Ucraina 301
HK - Hong Kong 233
VN - Vietnam 219
IE - Irlanda 199
SE - Svezia 199
FR - Francia 189
GB - Regno Unito 183
KR - Corea 164
FI - Finlandia 118
CA - Canada 116
JP - Giappone 81
NL - Olanda 67
PL - Polonia 60
CZ - Repubblica Ceca 59
IN - India 46
ID - Indonesia 42
AT - Austria 36
BE - Belgio 27
ES - Italia 24
ZA - Sudafrica 24
GR - Grecia 21
AR - Argentina 20
BD - Bangladesh 19
IQ - Iraq 18
TR - Turchia 18
MX - Messico 16
IL - Israele 15
MY - Malesia 13
AU - Australia 12
PH - Filippine 12
CH - Svizzera 11
DZ - Algeria 11
SC - Seychelles 10
PY - Paraguay 9
CO - Colombia 8
EC - Ecuador 8
MA - Marocco 8
TH - Thailandia 8
CL - Cile 7
PK - Pakistan 7
CY - Cipro 6
SA - Arabia Saudita 6
KG - Kirghizistan 5
LT - Lituania 5
NP - Nepal 5
TW - Taiwan 5
UZ - Uzbekistan 5
BA - Bosnia-Erzegovina 4
GT - Guatemala 4
JM - Giamaica 4
PE - Perù 4
PT - Portogallo 4
RO - Romania 4
RS - Serbia 4
AE - Emirati Arabi Uniti 3
DO - Repubblica Dominicana 3
EG - Egitto 3
ET - Etiopia 3
JO - Giordania 3
LB - Libano 3
LV - Lettonia 3
MT - Malta 3
NG - Nigeria 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
SK - Slovacchia (Repubblica Slovacca) 3
BG - Bulgaria 2
CR - Costa Rica 2
GI - Gibilterra 2
HN - Honduras 2
IS - Islanda 2
KE - Kenya 2
MD - Moldavia 2
NI - Nicaragua 2
QA - Qatar 2
TG - Togo 2
TN - Tunisia 2
UY - Uruguay 2
VE - Venezuela 2
A1 - Anonimo 1
AZ - Azerbaigian 1
BH - Bahrain 1
BO - Bolivia 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DK - Danimarca 1
EE - Estonia 1
EU - Europa 1
GE - Georgia 1
HU - Ungheria 1
IR - Iran 1
KH - Cambogia 1
KZ - Kazakistan 1
Totale 29.056
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Città #
Woodbridge 6.127
Wilmington 5.479
Houston 5.053
Singapore 664
Fairfield 583
Ashburn 502
Ann Arbor 491
Chandler 417
Jacksonville 272
San Jose 249
Cambridge 231
Hong Kong 220
Seattle 218
Beijing 207
Dearborn 196
Dublin 172
Medford 132
The Dalles 124
New York 121
Council Bluffs 120
Rome 102
Menlo Park 101
Santa Clara 94
Los Angeles 93
Moscow 85
Seongnam 72
Boardman 71
Tokyo 64
Lawrence 63
Hanoi 51
Mülheim 51
Dallas 50
Ho Chi Minh City 49
Helsinki 48
Las Vegas 45
Amsterdam 44
Buffalo 44
Munich 42
Milan 41
Falls Church 40
Montreal 37
São Paulo 34
Chicago 33
London 32
Warsaw 31
Frankfurt am Main 30
Phoenix 29
San Diego 29
Redwood City 27
San Mateo 27
Nuremberg 26
Brussels 25
Dong Ket 25
Jakarta 25
North Bergen 22
Stockholm 22
Columbus 21
Hefei 19
Nanjing 18
Ottawa 18
Fuzhou 17
Vienna 17
Lauterbourg 16
Seoul 16
Toronto 16
University Park 16
Zhengzhou 16
Rio de Janeiro 14
Anaheim 13
Haiphong 13
Paris 13
Brooklyn 12
Verona 12
Auburn Hills 11
Johannesburg 11
Mountain View 11
San Francisco 11
Atlanta 10
Colorado Springs 10
Denver 10
Guangzhou 10
Kunming 10
Norwalk 10
Turku 10
Boston 9
Istanbul 9
Nanchang 9
Pune 9
Shanghai 9
Suzhou 9
Baghdad 8
Belo Horizonte 8
Brno 8
Mcallen 8
Orlando 8
Mumbai 7
Porto Alegre 7
Putian 7
Redondo Beach 7
Wuhan 7
Totale 23.792
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Nome #
Population structure in the Mediterranean basin: A Y chromosome perspective 2.133
Y-chromosomal variation in the Czech Republic 979
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area 719
Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations 529
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 527
SSADH variation in primates: Intra- and interspecific data on a gene with a potential role in human cognitive functions 518
Epidemiological and linkage studies on Huntington's disease in Italy 507
Alcohol use disorder and GABAB receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies 505
Charge patch attraction and reentrant condensation in DNA-liposome complexes 500
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency 491
Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects 487
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency 485
Ordering of 44 genetic markers in the 6p22 cytogenetic band 474
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 473
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism 473
Construction of a YAC contig covering human chromosome 6p22 470
Genetic characterization of the body attributed to the evangelist Luke 470
Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms 469
Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe 467
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 465
A cosmid library specific for human chromosome regions 6p23.1 and 6q27. 464
Differential structuring of human populations for homologous X and Y microsatellite loci 459
Genetic fitness in Huntington’s Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 457
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 454
Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region 446
A human derived SSADH coding variant is replacing the ancestral allele shared with primates. 445
The human Y chromosome shows a low level of DNA polymorphism 444
Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4] 443
Linkage exclusion in Italian families with hereditary Essential Tremor 439
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) 435
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci 432
Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa 431
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language 431
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency 428
Succinic Semialdehyde Dehydrogenase: Biochemical-Molecular-Clinical Disease Mechanisms, Redox Regulation, and Functional Significance 428
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 427
An additional HindIII polymorphism at the coagulation factor XIIIA locus 425
Human succinic semialdeyde dehydrogenase: Molecular cloning and chromosomal localization 417
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I 417
Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology 417
Succinic semialdehyde dehydrogenase (SSADH) deficiency: molecular analysis in a southern American family. 417
Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations 415
Disequilibrium of multiple DNA markers on the human Y chromosome 415
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability 403
Test genetici e consultori 401
ON THE ESTIMATION OF THE AGE AT ONSET DISTRIBUTION IN HUNTINGTONS-CHOREA USING THE EM ALGORITHM 393
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). 391
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency 391
SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER 389
Network analyses of Y-chromosomal types in Europe, Northern Africa, and Western Asia reveal specific patterns of geographic distribution 388
Linkage analysis and linkage disequilibrium studies between SCA1 and TG microsatellite VNTRs on 6p. 379
The EUROGEM map of human chromosome 14. 377
Variazione del numero dei cromosomi 375
Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization 374
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 368
The geographic distribution of human Y chromosome variation 318
Genetic analysis of the 16 STR loci for human identification in Native Amazonian populations from Perù. 299
Studio delle migrazioni umane recenti in Sud America: analisi genetica delle popolazioni native amazzoniche e miste di Perù 274
Signs of continental ancestry in urban populations of Peru through autosomal STR loci and mitochondrial DNA typing 234
Novel mutations in two unrelated Italian patients with SSADH deficiency 213
GABA catabolism involvement in Alzheimer’s disease: a case-control study of SNPs in ALDH5A1 gene. 181
SSADH variants increase susceptibility of U87 cells to mitochondrial pro-oxidant insult 168
Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease 155
Intestinal Parasites from Wild Boar Populations in Italy: Baseline Data in the Framework of the PRIN PNRR 2022 Project 134
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency 96
Genetic diversity of the Ig Heavy chain locus in SARS-CoV-2 infection 90
Genetic aspects underlying the Normocalcemic and Hypercalcemic phenotypes of Primary Hyperparathyroidism 84
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism 82
Hydroxytyrosol counteracts triple negative breast cancer cell dissemination via its copper complexing properties 77
Variation of the 3’RR1 HS1.2 Enhancer and Its Genomic Context 69
Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2 66
Totale 29.296
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Categoria #
all - tutte 60.606
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 60.606
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021305 0 0 0 0 0 0 0 0 0 0 142 163
2021/2022992 61 73 86 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
2025/20262.977 278 215 304 233 281 168 416 422 388 265 7 0
Totale 29.296