CRIS Current Research Information System

MINARDI, RAFFAELLA
 Distribuzione geografica
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Continente #
AS - Asia 1.995
NA - Nord America 1.361
EU - Europa 938
Continente sconosciuto - Info sul continente non disponibili 94
AF - Africa 87
SA - Sud America 82
OC - Oceania 3
Totale 4.560
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Nazione #
US - Stati Uniti d'America 1.328
VN - Vietnam 644
SG - Singapore 460
CN - Cina 426
IT - Italia 336
HK - Hong Kong 142
SE - Svezia 123
DE - Germania 102
BD - Bangladesh 77
KR - Corea 70
GB - Regno Unito 63
BR - Brasile 59
NL - Olanda 58
FR - Francia 52
IN - India 48
IE - Irlanda 39
FI - Finlandia 37
RU - Federazione Russa 37
CI - Costa d'Avorio 32
JP - Giappone 24
BG - Bulgaria 23
CA - Canada 21
JO - Giordania 21
PH - Filippine 14
SC - Seychelles 13
IQ - Iraq 12
CH - Svizzera 11
TG - Togo 11
PL - Polonia 10
ZA - Sudafrica 10
AR - Argentina 9
AT - Austria 9
ID - Indonesia 9
TR - Turchia 9
TH - Thailandia 8
BE - Belgio 7
TW - Taiwan 7
ES - Italia 6
NG - Nigeria 6
CO - Colombia 5
PK - Pakistan 5
EC - Ecuador 4
RS - Serbia 4
UA - Ucraina 4
AU - Australia 3
GR - Grecia 3
HR - Croazia 3
MX - Messico 3
SA - Arabia Saudita 3
UZ - Uzbekistan 3
CL - Cile 2
EE - Estonia 2
GH - Ghana 2
IR - Iran 2
JM - Giamaica 2
KZ - Kazakistan 2
MA - Marocco 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
VE - Venezuela 2
AD - Andorra 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BT - Bhutan 1
CG - Congo 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EG - Egitto 1
ET - Etiopia 1
EU - Europa 1
GT - Guatemala 1
HN - Honduras 1
IL - Israele 1
IS - Islanda 1
KE - Kenya 1
KG - Kirghizistan 1
KH - Cambogia 1
LB - Libano 1
LT - Lituania 1
LV - Lettonia 1
MM - Myanmar 1
MY - Malesia 1
PA - Panama 1
PR - Porto Rico 1
PY - Paraguay 1
RO - Romania 1
UG - Uganda 1
Totale 4.467
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Città #
Singapore 336
Ashburn 185
Ho Chi Minh City 174
Hefei 161
Hanoi 140
Hong Kong 136
Chandler 103
San Jose 103
Seoul 68
Bologna 63
Beijing 48
Council Bluffs 48
Fairfield 46
Santa Clara 46
Southend 41
Los Angeles 40
Dublin 39
New York 37
Boardman 36
Abidjan 32
Haiphong 28
Redmond 26
Princeton 25
Dong Ket 24
Milan 22
Sofia 22
Tokyo 22
Amman 21
Dallas 21
Florence 21
Lappeenranta 21
Lauterbourg 21
Ann Arbor 20
Wilmington 19
Turin 18
Houston 17
Woodbridge 17
Cambridge 16
Munich 16
Da Nang 14
Frankfurt am Main 13
Redondo Beach 13
Seattle 13
Bengaluru 12
Rome 12
Biên Hòa 11
Buffalo 11
Ha Long 11
Helsinki 11
Lomé 11
Naples 11
Nuremberg 11
Rimini 11
Falls Church 10
Amsterdam 9
Bern 9
Quận Bình Thạnh 9
Jakarta 8
Modena 8
Phoenix 8
Shanghai 8
Warsaw 8
Hải Dương 7
Johannesburg 7
Orem 7
São Paulo 7
Vũng Tàu 7
Điện Bàn 7
Brussels 6
Bắc Giang 6
Bắc Ninh 6
Desenzano del Garda 6
Abeokuta 5
Atlanta 5
Bangkok 5
Chicago 5
Falkenstein 5
Guangzhou 5
Hangzhou 5
Las Vegas 5
Manchester 5
Montreal 5
Phủ Lý 5
San Diego 5
Shenzhen 5
Thái Nguyên 5
Tongling 5
Boydton 4
Brighton 4
Bühl 4
Düsseldorf 4
Ferrara 4
Fremont 4
Genoa 4
London 4
Mülheim 4
Nam Định 4
Ninh Bình 4
Quận Phú Nhuận 4
Rocca Di Papa 4
Totale 2.714
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Nome #
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data 404
DNA VIRAL INFECTIONS ASSAY IN KIDNEY TRANSPLANT RECIPIENTS BY A NEW HIGH THROUGHPUT MASS SPECTROMETRY METHOD 264
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 250
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 233
Epilepsy With Auditory Features: From Etiology to Treatment 222
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families 212
Epilepsy with auditory features: Contribution of known genes in 112 patients 209
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 206
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 191
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 191
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency 166
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation 166
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy 166
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep 164
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 157
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene 153
Polygenic burden in focal and generalized epilepsies 147
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 145
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 131
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants 128
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant 106
RAB32 mutation in Parkinson's disease 104
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 103
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 94
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 72
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants 63
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 58
New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment 54
null 1
Totale 4.560
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Categoria #
all - tutte 12.374
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 12.374
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022290 0 4 15 26 26 15 4 30 17 46 73 34
2022/2023450 31 39 17 51 39 35 18 26 96 22 61 15
2023/2024199 14 28 9 20 8 25 13 26 12 19 15 10
2024/2025752 26 83 63 47 71 34 44 25 13 69 88 189
2025/20262.367 419 269 161 162 197 89 234 75 342 147 133 139
2026/2027137 67 70 0 0 0 0 0 0 0 0 0 0
Totale 4.560