CRIS Current Research Information System

MINARDI, RAFFAELLA
 Distribuzione geografica
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Continente #
AS - Asia 1.973
NA - Nord America 1.261
EU - Europa 917
AF - Africa 87
SA - Sud America 81
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.323
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Nazione #
US - Stati Uniti d'America 1.238
VN - Vietnam 644
SG - Singapore 456
CN - Cina 422
IT - Italia 319
HK - Hong Kong 140
SE - Svezia 121
DE - Germania 102
KR - Corea 70
BD - Bangladesh 67
GB - Regno Unito 63
BR - Brasile 58
NL - Olanda 58
FR - Francia 52
IN - India 46
IE - Irlanda 39
FI - Finlandia 37
RU - Federazione Russa 36
CI - Costa d'Avorio 32
JP - Giappone 24
BG - Bulgaria 23
JO - Giordania 21
CA - Canada 15
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
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
IL - Israele 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
PY - Paraguay 1
RO - Romania 1
UG - Uganda 1
Totale 4.323
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Città #
Singapore 333
Ashburn 183
Ho Chi Minh City 174
Hefei 161
Hanoi 140
Hong Kong 134
Chandler 103
San Jose 97
Seoul 68
Bologna 63
Fairfield 46
Beijing 45
Santa Clara 42
Southend 41
Dublin 39
Los Angeles 37
New York 37
Boardman 36
Council Bluffs 33
Abidjan 32
Haiphong 28
Redmond 26
Dong Ket 24
Princeton 24
Sofia 22
Tokyo 22
Amman 21
Florence 21
Lappeenranta 21
Lauterbourg 21
Ann Arbor 20
Wilmington 19
Turin 18
Dallas 17
Houston 17
Milan 17
Woodbridge 17
Munich 16
Cambridge 15
Da Nang 14
Frankfurt am Main 13
Redondo Beach 13
Bengaluru 12
Biên Hòa 11
Ha Long 11
Helsinki 11
Lomé 11
Nuremberg 11
Rimini 11
Seattle 11
Buffalo 10
Falls Church 10
Naples 10
Rome 10
Amsterdam 9
Bern 9
Quận Bình Thạnh 9
Jakarta 8
Shanghai 8
Warsaw 8
Hải Dương 7
Johannesburg 7
Modena 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
Falkenstein 5
Guangzhou 5
Hangzhou 5
Manchester 5
Montreal 5
Phoenix 5
Phủ Lý 5
San Diego 5
Shenzhen 5
Thái Nguyên 5
Tongling 5
Boydton 4
Brighton 4
Bühl 4
Chicago 4
Düsseldorf 4
Ferrara 4
Fremont 4
Genoa 4
Las Vegas 4
Mülheim 4
Nam Định 4
Ninh Bình 4
Quận Phú Nhuận 4
Rocca Di Papa 4
Sant'Elpidio a Mare 4
Totale 2.653
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Nome #
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data 398
DNA VIRAL INFECTIONS ASSAY IN KIDNEY TRANSPLANT RECIPIENTS BY A NEW HIGH THROUGHPUT MASS SPECTROMETRY METHOD 258
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 245
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 229
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 209
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 205
Epilepsy with auditory features: Contribution of known genes in 112 patients 204
Epilepsy With Auditory Features: From Etiology to Treatment 202
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 185
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 175
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation 165
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency 164
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy 162
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep 161
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)) 151
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene 151
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 144
Polygenic burden in focal and generalized epilepsies 142
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 124
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 101
RAB32 mutation in Parkinson's disease 98
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 92
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant 90
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 71
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 55
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants 53
New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment 50
null 1
Totale 4.416
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Categoria #
all - tutte 11.733
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 11.733
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202157 0 0 0 0 0 0 0 0 0 0 0 57
2021/2022317 27 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
2025/20262.360 419 269 161 162 197 89 234 75 342 147 133 132
Totale 4.416