IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

BORDONI, ANDREINA
 Distribuzione geografica
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Continente #
EU - Europa 8.948
NA - Nord America 7.775
AS - Asia 6.904
SA - Sud America 573
AF - Africa 156
OC - Oceania 56
Continente sconosciuto - Info sul continente non disponibili 12
Totale 24.424
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Nazione #
US - Stati Uniti d'America 7.440
GB - Regno Unito 2.618
CN - Cina 2.150
SG - Singapore 1.868
IT - Italia 1.404
DE - Germania 1.385
SE - Svezia 849
RU - Federazione Russa 588
VN - Vietnam 572
FR - Francia 537
HK - Hong Kong 530
BD - Bangladesh 433
IN - India 424
BR - Brasile 366
UA - Ucraina 317
TR - Turchia 282
NL - Olanda 277
CA - Canada 261
FI - Finlandia 237
IE - Irlanda 223
KR - Corea 222
EU - Europa 181
JP - Giappone 120
PL - Polonia 102
CO - Colombia 96
CI - Costa d'Avorio 79
DK - Danimarca 68
BE - Belgio 65
GR - Grecia 56
ID - Indonesia 55
AU - Australia 53
ES - Italia 51
AR - Argentina 38
RO - Romania 32
MX - Messico 31
SA - Arabia Saudita 25
CH - Svizzera 24
UZ - Uzbekistan 23
TW - Taiwan 22
ZA - Sudafrica 21
IQ - Iraq 19
HU - Ungheria 17
VE - Venezuela 17
EC - Ecuador 16
AT - Austria 15
CL - Cile 15
MA - Marocco 15
PK - Pakistan 15
EG - Egitto 14
PT - Portogallo 14
IR - Iran 13
AZ - Azerbaigian 12
IL - Israele 12
PH - Filippine 12
AE - Emirati Arabi Uniti 11
JO - Giordania 11
NP - Nepal 11
CZ - Repubblica Ceca 9
HR - Croazia 9
LB - Libano 9
PE - Perù 9
PY - Paraguay 9
TH - Thailandia 9
KE - Kenya 8
NO - Norvegia 8
CR - Costa Rica 7
KG - Kirghizistan 7
MY - Malesia 7
AL - Albania 6
BY - Bielorussia 6
JM - Giamaica 6
PA - Panama 6
EE - Estonia 5
ET - Etiopia 5
KH - Cambogia 5
UY - Uruguay 5
BG - Bulgaria 4
HN - Honduras 4
KZ - Kazakistan 4
LK - Sri Lanka 4
LT - Lituania 4
RS - Serbia 4
CU - Cuba 3
GL - Groenlandia 3
NZ - Nuova Zelanda 3
SC - Seychelles 3
SK - Slovacchia (Repubblica Slovacca) 3
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
CY - Cipro 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
GE - Georgia 2
GH - Ghana 2
GT - Guatemala 2
LC - Santa Lucia 2
LU - Lussemburgo 2
LV - Lettonia 2
NG - Nigeria 2
Totale 24.564
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Città #
Southend 2.237
Singapore 1.095
Ashburn 760
Chandler 667
Hong Kong 494
Beijing 477
Milan 364
Seattle 337
San Jose 324
Princeton 282
Ann Arbor 251
Wilmington 251
Dallas 230
Jacksonville 221
Dublin 218
New York 187
Council Bluffs 185
Los Angeles 176
Fairfield 166
Redmond 163
Bengaluru 162
Mountain View 161
Toronto 159
Ho Chi Minh City 156
Santa Clara 144
Hanoi 138
Nanjing 137
Dearborn 127
Boardman 125
Lauterbourg 117
Woodbridge 113
Frankfurt am Main 110
Redwood City 105
Des Moines 103
Buffalo 98
Somerville 96
Houston 94
Helsinki 90
Sakarya 89
Bogotá 87
Shanghai 87
Warsaw 85
Serra 84
Jinan 83
Andover 82
Hanover 80
Munich 80
Guangzhou 79
Moscow 79
Abidjan 78
Grafing 69
Tokyo 68
Phoenix 62
Rome 61
Cambridge 60
Athens 56
Nanchang 55
Kiez 51
Shenyang 50
São Paulo 50
Tianjin 47
Columbus 46
Margão 46
Cangzhou 44
Changsha 44
Ottawa 43
Brussels 41
Medford 40
Hebei 39
The Dalles 38
Ponte San Pietro 37
Istanbul 36
Naples 32
Bitonto 31
Nürnberg 30
Turku 29
Da Nang 28
Fuzhou 28
Hangzhou 28
Berlin 27
Chicago 27
Eitensheim 27
Hefei 26
Jakarta 26
Auburn Hills 25
Boston 24
Zhengzhou 24
Brooklyn 23
Turin 23
Jiaxing 22
London 22
Scranton 22
Hamburg 21
Ningbo 21
Dong Ket 20
Ankara 18
New Delhi 18
Orem 18
Paris 18
Seoul 18
Totale 14.072
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Nome #
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) 701
A de novo C19orf12 heterozygous mutation in a patient with MPAN 575
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome 527
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 512
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons 432
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene 323
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing 313
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency. 308
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype 281
The mitochondrial disulfide relay system protein GFER is mutated in sutosomal-tecessive myopathy with vataract and vombined respiratory-chain deficiency 277
Transplanted ALDH(hi)SSC(lo) neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1 273
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction 273
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study 272
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 255
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice 255
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 251
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
Clinical features of an adult-onset Leigh syndrome caused by the T9176C mutation in the mitochondrial DNA ATPase 6 gene 244
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia 244
Mitochondrial respiratory chain dysfunction in muscle from patients with Amyotrophic Lateral Sclerosis 239
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 239
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 239
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction 238
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne 236
mtDNA depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy 234
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up 231
New mutations in TK2 gene associated with mitochondrial DNA depletion 229
Mitochondrial, Ehlers-Danlos and CADASIL features in the same family: a genetic puzzle or a new disease entità? 228
POLG1 mutations and stroke like episodes : a distinct clinical entity rather than an atypical MELAS syndrome 227
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T > C mutation 224
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 223
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 222
Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy 222
ALDH positive neural stem cells generate motor neurons and promote functional recovery in NMD mice, an animal model of SMARD1 221
A splicing site OPA1 mutation associated with autosomal dominant optic atrophy in an Italian family 221
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction 220
A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment 219
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 218
Genome-wide RNA-seq and proteomic analysis of motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease, partially rescued by riboflavin 218
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 216
Miopatia progressiva con ptosi, oftalmoplagia e aspetti distrofici alla biopsia muscolare 215
Mitochondrial DNA G8363A mutation in the tRNA Lys gene : clinical features of a new family 213
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation 209
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy 207
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 207
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 207
Morpholino antisense oligomer against SOD1 for amyotrophic lateral sclerosis therapy 206
Bank of DNA, cell lines and nerve-muscle-cardiac tissues 205
Survival motor neuron (SMN1 and SMN2) genes copy number in multifocal motor neuropathy 203
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients 202
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy 201
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia 200
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida. 200
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions 200
Aspetti clinici e molecolari in un paziente pediatrico affetto da Sindrome di Leigh associata alla mutazione mitocondriale m.14459G>A 199
Glycogen storage disease type III : A novel Agl knockout mouse model 198
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 197
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population 196
Congenital myopathy with ptosis, ophthalmoplegia and muscle dystrophic changes: a possible sporadic case of myosin heavy chain type IIa myopathy. 194
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families 194
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 193
Changes in whole-body oxygen consumption and skeletal muscle mitochondria during linezolid-induced lactic acidosis 192
New twinkle gene mutations in PEO patients with multiple mitochondrial DNA deletions 191
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 190
Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients 190
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 189
Caratterizzazione clinica e molecolare della mutazione MERRF A8344G in una famiglia senza coinvolgimento del SNC 188
Cell Penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model 188
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 187
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy 186
A yeast system to study double strand break formation in the DMD deletion prone region and in human recombination hotspots 184
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 183
Complex IV change in the mitochondria respiratory chain of chronic external ophtalmoplegia : a review of our cases 183
ALDH neural stem cells generate motor neurons and ameliorate the phenotype of nmd mice, an animal model of SMARD1 182
Novel SOD1 Q23R mutation associated with muscle mitochondrial dysfunction in familial ALS International Meeting “Mutant SOD1 and familial ALS: from the molecule to man 181
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III. 181
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease. 180
Incidental Mitochondrial Myopathy 179
CPPs-conjugated antisense nucleotides : a new therapeutic strategy for Spinal Muscular Atrophy symptomatic patients 179
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment 178
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 177
CPPs-conjugated antisense nucleotides : a new therapeutic strategy for Spinal Muscular Atrophy symptomatic patients 177
Miopatia mitocondriale con fenotipo clinico “limb-girdle”: studio morfologico e biomolecolare 176
Una nuova mutazione nella subunità CO-II è associata a coma metabolico pediatrico con un grave deficit di Complesso IV 175
Mitocondriapatia, Ehlers-Danlos, e CADASIL: coesistenza di caratteristiche delle tre patologie nella stessa famiglia. 174
Screening of mitochondrial myopathy with mtDNA multiple deletions and characterization of patients without mutations in known loci 171
Screening of Twinkle gene in POLG1- and ANT1-negative patients with mitochondrial myopathy and multiple mitochondrial DNA deletions : four new mutations 170
Novel homozygous mutation in SOD1 gene in a patient with familial amyotrophic lateral sclerosis 170
Nuova mutazione intronica nel gene della distrofina determinante inserzione di un pseudo esone in paziente DMD 170
Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients 167
Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease. 167
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation 167
Analisi di modelli cellulari in cui è compromessa l’attività di GFER, proteina chiave del Disulfide Relay System 166
5 ' azacytidine enhances exogenous gene expression in skeletal muscle 165
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family 165
Transplantation of ALDH expressing neuronal stem cell subpopulation derived from spinal cord into Nmd mice, an animal model of SMARD1 163
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons 163
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment 162
Mutations in the mitochondrial DNA control region in mitochondrial disorders associated with defects in mtDNA maintenance and aging. “Frontiers in DNA Research 160
A region in the dystrophin gene major hot-spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast 160
Totale 22.450
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Categoria #
all - tutte 63.140
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 63.140
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021167 0 0 0 0 0 0 0 0 0 0 0 167
2021/20221.767 104 103 69 139 96 118 143 139 223 152 149 332
2022/20232.272 294 280 201 252 236 437 48 128 267 28 63 38
2023/20241.318 45 106 79 93 395 87 64 88 36 55 108 162
2024/20253.261 118 326 89 415 239 94 52 293 182 329 311 813
2025/20266.527 706 349 602 508 591 435 786 309 554 621 867 199
Totale 25.721