CRIS Current Research Information System

MINARDI, RAFFAELLA
 Distribuzione geografica
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Continente #
AS - Asia 1.904
NA - Nord America 1.109
EU - Europa 863
AF - Africa 87
SA - Sud America 77
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.043
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Nazione #
US - Stati Uniti d'America 1.092
VN - Vietnam 642
SG - Singapore 454
CN - Cina 419
IT - Italia 269
HK - Hong Kong 137
SE - Svezia 121
DE - Germania 101
KR - Corea 70
GB - Regno Unito 63
NL - Olanda 58
BR - Brasile 54
FR - Francia 50
IN - India 45
IE - Irlanda 39
FI - Finlandia 37
RU - Federazione Russa 36
CI - Costa d'Avorio 32
JP - Giappone 24
BG - Bulgaria 23
JO - Giordania 20
PH - Filippine 14
SC - Seychelles 13
IQ - Iraq 12
CH - Svizzera 11
TG - Togo 11
BD - Bangladesh 10
CA - Canada 10
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
NG - Nigeria 6
CO - Colombia 5
ES - Italia 5
PK - Pakistan 5
EC - Ecuador 4
RS - Serbia 4
UA - Ucraina 4
GR - Grecia 3
HR - Croazia 3
MX - Messico 3
SA - Arabia Saudita 3
UZ - Uzbekistan 3
AU - Australia 2
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
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
TT - Trinidad e Tobago 1
UG - Uganda 1
Totale 4.043
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Città #
Singapore 332
Ho Chi Minh City 174
Ashburn 168
Hefei 161
Hanoi 138
Hong Kong 131
Chandler 103
San Jose 83
Seoul 68
Bologna 60
Fairfield 46
Beijing 42
Southend 41
Dublin 39
Santa Clara 36
Los Angeles 33
Abidjan 32
Boardman 31
Haiphong 28
Council Bluffs 27
Redmond 26
Dong Ket 24
Princeton 24
New York 23
Sofia 22
Tokyo 22
Lappeenranta 21
Lauterbourg 21
Amman 20
Ann Arbor 20
Florence 19
Wilmington 19
Houston 17
Woodbridge 17
Munich 16
Turin 16
Cambridge 15
Dallas 15
Da Nang 14
Frankfurt am Main 13
Redondo Beach 13
Bengaluru 12
Biên Hòa 11
Ha Long 11
Helsinki 11
Lomé 11
Milan 11
Nuremberg 11
Falls Church 10
Rimini 10
Seattle 10
Amsterdam 9
Bern 9
Quận Bình Thạnh 9
Jakarta 8
Shanghai 8
Warsaw 8
Hải Dương 7
Johannesburg 7
Modena 7
Vũng Tàu 7
Điện Bàn 7
Brussels 6
Buffalo 6
Bắc Giang 6
Bắc Ninh 6
Desenzano del Garda 6
Orem 6
Rome 6
Abeokuta 5
Bangkok 5
Falkenstein 5
Guangzhou 5
Hangzhou 5
Manchester 5
Naples 5
Phủ Lý 5
San Diego 5
Shenzhen 5
Thái Nguyên 5
Tongling 5
Atlanta 4
Boydton 4
Brighton 4
Bühl 4
Düsseldorf 4
Ferrara 4
Genoa 4
Montreal 4
Mülheim 4
Nam Định 4
Ninh Bình 4
Quận Phú Nhuận 4
Rocca Di Papa 4
Sant'Elpidio a Mare 4
Storm Lake 4
Belgrade 3
Berlin 3
Boston 3
Brooklyn 3
Totale 2.538
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Nome #
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data 365
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 241
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 228
DNA VIRAL INFECTIONS ASSAY IN KIDNEY TRANSPLANT RECIPIENTS BY A NEW HIGH THROUGHPUT MASS SPECTROMETRY METHOD 216
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 201
Epilepsy with auditory features: Contribution of known genes in 112 patients 199
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 198
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 181
Epilepsy With Auditory Features: From Etiology to Treatment 168
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 167
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency 160
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation 159
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy 159
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep 157
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene 145
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)) 144
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 144
Polygenic burden in focal and generalized epilepsies 141
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 128
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants 123
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 97
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 89
RAB32 mutation in Parkinson's disease 76
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 69
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant 67
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 54
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants 36
New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment 23
null 1
Totale 4.136
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Categoria #
all - tutte 10.825
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 10.825
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202178 0 0 0 0 0 0 0 0 0 13 8 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
2025/20262.080 419 269 161 162 197 89 234 75 342 132 0 0
Totale 4.136