IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

LUCCHIARI, SABRINA
 Distribuzione geografica
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Continente #
NA - Nord America 2.996
EU - Europa 2.893
AS - Asia 2.588
SA - Sud America 232
AF - Africa 56
OC - Oceania 26
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.794
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Nazione #
US - Stati Uniti d'America 2.830
GB - Regno Unito 801
CN - Cina 743
SG - Singapore 704
IT - Italia 559
DE - Germania 422
VN - Vietnam 239
BD - Bangladesh 231
SE - Svezia 225
HK - Hong Kong 206
RU - Federazione Russa 194
BR - Brasile 172
FR - Francia 148
IN - India 146
CA - Canada 122
NL - Olanda 108
UA - Ucraina 93
TR - Turchia 89
FI - Finlandia 78
IE - Irlanda 72
KR - Corea 71
EU - Europa 53
JP - Giappone 43
CO - Colombia 33
ID - Indonesia 32
BE - Belgio 26
ES - Italia 25
MX - Messico 25
AU - Australia 24
CH - Svizzera 21
CI - Costa d'Avorio 21
DK - Danimarca 19
GR - Grecia 18
RO - Romania 17
PL - Polonia 15
PT - Portogallo 15
PK - Pakistan 11
AT - Austria 9
AR - Argentina 8
IQ - Iraq 8
PH - Filippine 7
ZA - Sudafrica 7
CL - Cile 6
MY - Malesia 6
TW - Taiwan 6
UZ - Uzbekistan 6
EC - Ecuador 5
SA - Arabia Saudita 5
AE - Emirati Arabi Uniti 4
IL - Israele 4
IR - Iran 4
PY - Paraguay 4
AZ - Azerbaigian 3
CR - Costa Rica 3
CZ - Repubblica Ceca 3
DZ - Algeria 3
EE - Estonia 3
EG - Egitto 3
ET - Etiopia 3
HN - Honduras 3
HU - Ungheria 3
JO - Giordania 3
KE - Kenya 3
LU - Lussemburgo 3
MA - Marocco 3
PA - Panama 3
PS - Palestinian Territory 3
SC - Seychelles 3
AL - Albania 2
BW - Botswana 2
LB - Libano 2
LV - Lettonia 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
OM - Oman 2
PE - Perù 2
RS - Serbia 2
SI - Slovenia 2
SV - El Salvador 2
TN - Tunisia 2
VE - Venezuela 2
A1 - Anonimo 1
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BJ - Benin 1
CU - Cuba 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GE - Georgia 1
GL - Groenlandia 1
GT - Guatemala 1
HR - Croazia 1
JM - Giamaica 1
KG - Kirghizistan 1
KZ - Kazakistan 1
Totale 8.833
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Città #
Southend 692
Singapore 392
Ashburn 316
Chandler 251
Hong Kong 174
Beijing 156
Dallas 152
Milan 133
Seattle 127
San Jose 107
Ann Arbor 82
Princeton 78
Wilmington 78
Jacksonville 75
Council Bluffs 71
Dublin 71
Fairfield 70
New York 70
Ho Chi Minh City 67
Los Angeles 66
Houston 63
Bengaluru 61
Toronto 60
Frankfurt am Main 56
Hanoi 55
Hefei 54
Mountain View 54
Santa Clara 53
Dearborn 52
Nanjing 45
Redwood City 45
Woodbridge 41
Redmond 39
Lauterbourg 38
Boardman 37
Guangzhou 30
Buffalo 29
Des Moines 28
Somerville 27
Bogotá 26
Cambridge 26
Ottawa 26
Sakarya 26
Tokyo 26
Helsinki 25
Moscow 25
Munich 25
Andover 24
Serra 24
Shanghai 24
Phoenix 23
São Paulo 23
Abidjan 21
Rome 20
Turku 20
Columbus 19
Cangzhou 18
Jinan 18
Bitonto 17
Bologna 17
Margão 17
Shenyang 17
Dong Ket 16
Hebei 16
Jakarta 16
Tianjin 15
Berlin 14
Brussels 14
Kiez 14
Scranton 14
Medford 13
Seoul 13
Athens 12
Da Nang 12
Roxbury 12
London 11
Nürnberg 11
Changsha 10
Nanchang 10
San Francisco 10
Shenzhen 10
Haiphong 9
Hangzhou 9
Naples 9
Orem 9
San Diego 9
The Dalles 9
Warsaw 9
Bari 8
Boston 8
Lisbon 8
Pune 8
Silver Spring 8
Amsterdam 7
Falkenstein 7
Lanzhou 7
Mumbai 7
Porto Alegre 7
Salt Lake City 7
Washington 7
Totale 4.997
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Nome #
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel 517
Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita 437
La canalopatia del cloro : diagnosi clinica differenziale 388
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion 362
Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients 294
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice 256
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 252
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4 252
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen disease associated with a new mutation in GBE gene 248
Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari 246
Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population 238
Limb-Girdle muscular dystrophies : clinical features and genetic frequency in a large Italian population 233
Novel Lys215Asn mutation in an Italian family with Thomsen myotonia 231
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease 216
Myotonia permanens with neonatal onset associated with a p.Gly1306Glu mutation in the SCN4A gene. 215
Redefining clinical phenotype in a large color of Italian non-dystrophic myotonic patients. 214
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis 213
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency 207
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 207
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice 201
New mutations in SCN4A and their biophysical properties 195
Glicogenosi di tipo III: rivalutazione delle caratteristiche cliniche e genetiche dei pazienti e stato dell’arte sul modello murino knock-out. 192
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 189
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient 184
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III. 183
Clinical and genetic heterogeneity of dysferlin deficiency 181
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease. 180
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia 179
Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies. 178
Myotonic dystrophy type 2: clinical, neurophysiological mnd muscular features of a family with short CCTG expansion. 176
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay 176
Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease. 168
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita 164
Novel CLCN1 gene mutation associated with myotonia congenita in Italian patients. 162
Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy 161
Neuropathological study of skeletal muscle, heart, liver, and brainin a neonatal form of glycogen storage disease type IV associated with a newmutation in GBE1 gene 157
Hepatic and neuromuscular forms of glycogenosis Type III : nine mutations in AGL Gene 154
Hypokalaemic periodic paralysis: a new nonsense mutation in KCNJ 2 gene 144
Mercury and dental patients: toxicology, immunology and genetic connection 139
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression 133
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction 124
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis 123
Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature 89
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Totale 9.161
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Categoria #
all - tutte 22.418
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 22.418
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202158 0 0 0 0 0 0 0 0 0 0 0 58
2021/2022579 32 37 45 22 46 44 45 19 79 67 31 112
2022/2023767 82 95 63 90 87 139 10 35 100 15 26 25
2023/2024457 9 33 23 22 128 30 17 75 16 14 42 48
2024/20251.190 49 100 27 117 83 37 48 93 68 130 127 311
2025/20262.794 317 198 318 190 218 160 363 96 206 218 405 105
Totale 9.161