IRIS
MALASPINA, PATRIZIA
 Distribuzione geografica
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Continente #
NA - Nord America 21.226
EU - Europa 2.015
AS - Asia 973
AF - Africa 24
SA - Sud America 20
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 2
Totale 24.271
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Nazione #
US - Stati Uniti d'America 21.146
SG - Singapore 411
DE - Germania 341
IT - Italia 300
UA - Ucraina 297
CN - Cina 255
IE - Irlanda 194
SE - Svezia 184
KR - Corea 164
RU - Federazione Russa 153
FR - Francia 147
GB - Regno Unito 146
FI - Finlandia 78
CA - Canada 75
CZ - Repubblica Ceca 52
VN - Vietnam 33
BE - Belgio 24
IN - India 24
PL - Polonia 23
BR - Brasile 16
GR - Grecia 16
HK - Hong Kong 16
JP - Giappone 15
NL - Olanda 13
IL - Israele 12
SC - Seychelles 9
AT - Austria 8
AU - Australia 8
CH - Svizzera 7
ID - Indonesia 7
TR - Turchia 7
ZA - Sudafrica 6
CY - Cipro 5
ES - Italia 4
KG - Kirghizistan 4
MY - Malesia 4
RS - Serbia 4
SA - Arabia Saudita 4
BA - Bosnia-Erzegovina 3
LT - Lituania 3
MT - Malta 3
NZ - Nuova Zelanda 3
PH - Filippine 3
RO - Romania 3
TW - Taiwan 3
CL - Cile 2
DZ - Algeria 2
EG - Egitto 2
GT - Guatemala 2
IS - Islanda 2
LV - Lettonia 2
MX - Messico 2
NG - Nigeria 2
NO - Norvegia 2
TG - Togo 2
UZ - Uzbekistan 2
A1 - Anonimo 1
AE - Emirati Arabi Uniti 1
BG - Bulgaria 1
BY - Bielorussia 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
EE - Estonia 1
EU - Europa 1
GE - Georgia 1
IQ - Iraq 1
LB - Libano 1
MA - Marocco 1
PE - Perù 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 24.271
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Città #
Woodbridge 6.127
Wilmington 5.478
Houston 5.050
Fairfield 583
Ann Arbor 491
Chandler 417
Ashburn 334
Singapore 322
Jacksonville 270
Cambridge 229
Seattle 217
Dearborn 196
Dublin 168
Medford 132
New York 104
Menlo Park 101
Rome 79
Santa Clara 77
Beijing 72
Seongnam 72
Boardman 66
Lawrence 63
Mülheim 51
Las Vegas 41
Falls Church 40
Moscow 29
San Diego 29
Milan 28
Redwood City 27
San Mateo 27
Dong Ket 25
London 24
Brussels 22
Montreal 22
Munich 22
Phoenix 22
Hefei 19
Helsinki 19
Ottawa 18
Fuzhou 17
Seoul 16
University Park 16
Zhengzhou 16
Frankfurt am Main 15
Nanjing 15
Chicago 14
Los Angeles 14
Anaheim 13
Toronto 13
Hong Kong 12
Verona 12
Auburn Hills 11
Mountain View 11
Kunming 10
Norwalk 10
Nuremberg 10
Guangzhou 9
Nanchang 9
Mcallen 8
Orlando 8
Pune 8
San Jose 8
Shanghai 8
Stockholm 8
Columbus 7
Putian 7
Auburn 6
Buffalo 6
Hanoi 6
North Charleston 6
Salerno 6
Staten Island 6
The Dalles 6
Wuhan 6
Brno 5
Dallas 5
North Bergen 5
Nürnberg 5
Paris 5
Amsterdam 4
Beauharnois 4
Brzesko 4
Chiswick 4
Council Bluffs 4
Encino 4
Groningen 4
Istanbul 4
Kansas City 4
L’Aquila 4
Montréal 4
Mulhouse 4
Saint Petersburg 4
San Francisco 4
Shenyang 4
São Paulo 4
Tel Aviv 4
Uszew 4
Washington 4
West Palm Beach 4
Xian 4
Totale 21.575
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Nome #
Population structure in the Mediterranean basin: A Y chromosome perspective 1.223
Y-chromosomal variation in the Czech Republic 704
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area 561
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 473
Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations 467
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism 448
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 441
SSADH variation in primates: Intra- and interspecific data on a gene with a potential role in human cognitive functions 441
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency 435
Ordering of 44 genetic markers in the 6p22 cytogenetic band 432
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency 431
Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects 431
Charge patch attraction and reentrant condensation in DNA-liposome complexes 430
Epidemiological and linkage studies on Huntington's disease in Italy 430
A cosmid library specific for human chromosome regions 6p23.1 and 6q27. 425
Alcohol use disorder and GABAB receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies 424
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 422
Construction of a YAC contig covering human chromosome 6p22 417
The human Y chromosome shows a low level of DNA polymorphism 415
Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms 412
Genetic characterization of the body attributed to the evangelist Luke 409
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 407
Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4] 405
Linkage exclusion in Italian families with hereditary Essential Tremor 404
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci 401
Genetic fitness in Huntington’s Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 400
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 396
Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe 396
Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region 394
A human derived SSADH coding variant is replacing the ancestral allele shared with primates. 392
Human succinic semialdeyde dehydrogenase: Molecular cloning and chromosomal localization 391
Differential structuring of human populations for homologous X and Y microsatellite loci 388
Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations 387
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language 381
Succinic Semialdehyde Dehydrogenase: Biochemical-Molecular-Clinical Disease Mechanisms, Redox Regulation, and Functional Significance 376
Succinic semialdehyde dehydrogenase (SSADH) deficiency: molecular analysis in a southern American family. 375
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) 374
Test genetici e consultori 370
Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology 368
ON THE ESTIMATION OF THE AGE AT ONSET DISTRIBUTION IN HUNTINGTONS-CHOREA USING THE EM ALGORITHM 366
Disequilibrium of multiple DNA markers on the human Y chromosome 362
SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER 359
An additional HindIII polymorphism at the coagulation factor XIIIA locus 359
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I 353
The EUROGEM map of human chromosome 14. 352
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability 351
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency 349
Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa 345
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency 345
Variazione del numero dei cromosomi 343
Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization 342
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 341
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). 337
Linkage analysis and linkage disequilibrium studies between SCA1 and TG microsatellite VNTRs on 6p. 336
Network analyses of Y-chromosomal types in Europe, Northern Africa, and Western Asia reveal specific patterns of geographic distribution 303
The geographic distribution of human Y chromosome variation 272
Genetic analysis of the 16 STR loci for human identification in Native Amazonian populations from Perù. 253
Studio delle migrazioni umane recenti in Sud America: analisi genetica delle popolazioni native amazzoniche e miste di Perù 244
Signs of continental ancestry in urban populations of Peru through autosomal STR loci and mitochondrial DNA typing 186
Novel mutations in two unrelated Italian patients with SSADH deficiency 179
SSADH variants increase susceptibility of U87 cells to mitochondrial pro-oxidant insult 118
Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease 117
GABA catabolism involvement in Alzheimer’s disease: a case-control study of SNPs in ALDH5A1 gene. 110
Genetic aspects underlying the Normocalcemic and Hypercalcemic phenotypes of Primary Hyperparathyroidism 40
Hydroxytyrosol counteracts triple negative breast cancer cell dissemination via its copper complexing properties 30
Genetic diversity of the Ig Heavy chain locus in SARS-CoV-2 infection 28
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency 25
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism 23
Variation of the 3’RR1 HS1.2 Enhancer and Its Genomic Context 20
Intestinal Parasites from Wild Boar Populations in Italy: Baseline Data in the Framework of the PRIN PNRR 2022 Project 17
Totale 24.481
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Categoria #
all - tutte 45.434
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 45.434
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.347 0 0 0 0 567 754 577 583 537 465 413 451
2020/20213.913 452 446 415 455 429 385 459 322 120 125 142 163
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
2024/2025949 88 394 239 131 97 0 0 0 0 0 0 0
Totale 24.481