IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

BORDONI, ANDREINA
 Distribuzione geografica
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Continente #
EU - Europa 9.186
NA - Nord America 8.429
AS - Asia 7.298
Continente sconosciuto - Info sul continente non disponibili 1.309
SA - Sud America 596
AF - Africa 158
OC - Oceania 57
Totale 27.033
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Nazione #
US - Stati Uniti d'America 8.021
GB - Regno Unito 2.622
CN - Cina 2.153
SG - Singapore 1.888
IT - Italia 1.616
DE - Germania 1.388
SE - Svezia 849
BD - Bangladesh 773
RU - Federazione Russa 588
VN - Vietnam 582
FR - Francia 540
HK - Hong Kong 532
IN - India 428
BR - Brasile 371
UA - Ucraina 317
CA - Canada 309
TR - Turchia 283
NL - Olanda 278
FI - Finlandia 237
KR - Corea 228
IE - Irlanda 223
EU - Europa 181
JP - Giappone 120
PL - Polonia 103
CO - Colombia 101
CI - Costa d'Avorio 79
DK - Danimarca 68
BE - Belgio 66
GR - Grecia 56
ID - Indonesia 56
AU - Australia 54
ES - Italia 53
AR - Argentina 40
MX - Messico 36
RO - Romania 32
CH - Svizzera 30
SA - Arabia Saudita 26
UZ - Uzbekistan 24
TW - Taiwan 22
ZA - Sudafrica 21
EC - Ecuador 20
IQ - Iraq 19
VE - Venezuela 18
CL - Cile 17
HU - Ungheria 17
AT - Austria 15
MA - Marocco 15
PK - Pakistan 15
EG - Egitto 14
PT - Portogallo 14
IR - Iran 13
PH - Filippine 13
AE - Emirati Arabi Uniti 12
AZ - Azerbaigian 12
IL - Israele 12
NP - Nepal 12
CR - Costa Rica 11
JO - Giordania 11
PE - Perù 11
PY - Paraguay 10
TH - Thailandia 10
CZ - Repubblica Ceca 9
HR - Croazia 9
KE - Kenya 9
LB - Libano 9
AL - Albania 8
JM - Giamaica 8
MY - Malesia 8
NO - Norvegia 8
BY - Bielorussia 7
KG - Kirghizistan 7
PA - Panama 6
EE - Estonia 5
ET - Etiopia 5
KH - Cambogia 5
RS - Serbia 5
TT - Trinidad e Tobago 5
UY - Uruguay 5
BG - Bulgaria 4
HN - Honduras 4
KZ - Kazakistan 4
LK - Sri Lanka 4
LT - Lituania 4
BA - Bosnia-Erzegovina 3
BO - Bolivia 3
CU - Cuba 3
DZ - Algeria 3
GL - Groenlandia 3
GT - Guatemala 3
MQ - Martinica 3
NZ - Nuova Zelanda 3
SC - Seychelles 3
SK - Slovacchia (Repubblica Slovacca) 3
AM - Armenia 2
BB - Barbados 2
BS - Bahamas 2
CY - Cipro 2
DO - Repubblica Dominicana 2
GE - Georgia 2
GH - Ghana 2
Totale 25.867
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Città #
Southend 2.237
Singapore 1.104
Ashburn 839
Chandler 667
Hong Kong 496
Beijing 478
Milan 377
Seattle 337
San Jose 327
Council Bluffs 296
Princeton 282
Santa Clara 271
Ann Arbor 253
Wilmington 253
Dallas 241
Jacksonville 222
Dublin 218
New York 210
Los Angeles 209
Toronto 169
Fairfield 166
Redmond 163
Bengaluru 162
Mountain View 161
Ho Chi Minh City 159
Hanoi 141
Nanjing 137
Dearborn 127
Boardman 125
Lauterbourg 117
Buffalo 116
Woodbridge 113
Frankfurt am Main 111
Redwood City 106
Des Moines 103
Somerville 97
Houston 96
Helsinki 90
Sakarya 89
Shanghai 88
Bogotá 87
Warsaw 85
Serra 84
Jinan 83
Andover 82
Hanover 80
Munich 80
Guangzhou 79
Moscow 79
Abidjan 78
Rome 77
Grafing 69
Tokyo 68
Phoenix 67
Cambridge 62
Athens 56
Nanchang 55
Kiez 51
Naples 50
Shenyang 50
São Paulo 50
Tianjin 47
Columbus 46
Margão 46
Cangzhou 44
Changsha 44
Ottawa 44
Brussels 42
Medford 40
Hebei 39
The Dalles 38
Ponte San Pietro 37
Istanbul 36
Bitonto 32
Chicago 32
Nürnberg 30
Berlin 29
Turku 29
Da Nang 28
Fuzhou 28
Hangzhou 28
Eitensheim 27
Hefei 26
Jakarta 26
Turin 26
Auburn Hills 25
Bari 25
Boston 25
Brooklyn 24
Zhengzhou 24
London 23
Jiaxing 22
Scranton 22
Bologna 21
Hamburg 21
Ningbo 21
Dong Ket 20
Genoa 20
Philadelphia 20
Ankara 18
Totale 14.600
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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) 723
A de novo C19orf12 heterozygous mutation in a patient with MPAN 594
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 544
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome 537
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons 459
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene 340
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing 337
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency. 320
The mitochondrial disulfide relay system protein GFER is mutated in sutosomal-tecessive myopathy with vataract and vombined respiratory-chain deficiency 300
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study 299
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype 296
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction 288
Transplanted ALDH(hi)SSC(lo) neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1 281
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 281
Clinical features of an adult-onset Leigh syndrome caused by the T9176C mutation in the mitochondrial DNA ATPase 6 gene 273
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 272
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia 269
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice 264
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects 263
Mitochondrial respiratory chain dysfunction in muscle from patients with Amyotrophic Lateral Sclerosis 258
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen disease associated with a new mutation in GBE gene 256
Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy 250
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction 249
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up 248
mtDNA depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy 244
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 244
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne 243
New mutations in TK2 gene associated with mitochondrial DNA depletion 242
Mitochondrial, Ehlers-Danlos and CADASIL features in the same family: a genetic puzzle or a new disease entità? 240
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction 239
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T > C mutation 239
POLG1 mutations and stroke like episodes : a distinct clinical entity rather than an atypical MELAS syndrome 236
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 235
A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment 234
Genome-wide RNA-seq and proteomic analysis of motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease, partially rescued by riboflavin 232
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 231
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 229
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 229
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation 229
ALDH positive neural stem cells generate motor neurons and promote functional recovery in NMD mice, an animal model of SMARD1 227
Mitochondrial DNA G8363A mutation in the tRNA Lys gene : clinical features of a new family 226
A splicing site OPA1 mutation associated with autosomal dominant optic atrophy in an Italian family 224
Miopatia progressiva con ptosi, oftalmoplagia e aspetti distrofici alla biopsia muscolare 220
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy 220
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families 220
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia 218
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 216
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 216
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions 214
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy 213
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients 212
Bank of DNA, cell lines and nerve-muscle-cardiac tissues 210
Morpholino antisense oligomer against SOD1 for amyotrophic lateral sclerosis therapy 210
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report 209
Glycogen storage disease type III : A novel Agl knockout mouse model 208
Survival motor neuron (SMN1 and SMN2) genes copy number in multifocal motor neuropathy 207
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida. 207
Congenital myopathy with ptosis, ophthalmoplegia and muscle dystrophic changes: a possible sporadic case of myosin heavy chain type IIa myopathy. 203
Aspetti clinici e molecolari in un paziente pediatrico affetto da Sindrome di Leigh associata alla mutazione mitocondriale m.14459G>A 203
Changes in whole-body oxygen consumption and skeletal muscle mitochondria during linezolid-induced lactic acidosis 203
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 202
A yeast system to study double strand break formation in the DMD deletion prone region and in human recombination hotspots 201
Novel SOD1 Q23R mutation associated with muscle mitochondrial dysfunction in familial ALS International Meeting “Mutant SOD1 and familial ALS: from the molecule to man 199
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population 199
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 197
Cell Penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model 197
New twinkle gene mutations in PEO patients with multiple mitochondrial DNA deletions 196
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy 196
Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients 195
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 194
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 193
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III. 193
Caratterizzazione clinica e molecolare della mutazione MERRF A8344G in una famiglia senza coinvolgimento del SNC 193
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment 192
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 191
Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients 189
ALDH neural stem cells generate motor neurons and ameliorate the phenotype of nmd mice, an animal model of SMARD1 187
CPPs-conjugated antisense nucleotides : a new therapeutic strategy for Spinal Muscular Atrophy symptomatic patients 187
CPPs-conjugated antisense nucleotides : a new therapeutic strategy for Spinal Muscular Atrophy symptomatic patients 187
Complex IV change in the mitochondria respiratory chain of chronic external ophtalmoplegia : a review of our cases 186
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease. 185
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation 185
Incidental Mitochondrial Myopathy 182
Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease. 179
Mitocondriapatia, Ehlers-Danlos, e CADASIL: coesistenza di caratteristiche delle tre patologie nella stessa famiglia. 178
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders 178
Una nuova mutazione nella subunità CO-II è associata a coma metabolico pediatrico con un grave deficit di Complesso IV 177
Miopatia mitocondriale con fenotipo clinico “limb-girdle”: studio morfologico e biomolecolare 177
Nuova mutazione intronica nel gene della distrofina determinante inserzione di un pseudo esone in paziente DMD 177
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family 177
Screening of mitochondrial myopathy with mtDNA multiple deletions and characterization of patients without mutations in known loci 176
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons 176
Novel homozygous mutation in SOD1 gene in a patient with familial amyotrophic lateral sclerosis 175
Spontaneous hydro(syringo)myelic cavity in two unrelated patients with late onset pompe disease: is this a fortuitous association? 175
Transplantation of ALDH expressing neuronal stem cell subpopulation derived from spinal cord into Nmd mice, an animal model of SMARD1 174
Screening of Twinkle gene in POLG1- and ANT1-negative patients with mitochondrial myopathy and multiple mitochondrial DNA deletions : four new mutations 174
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment 173
Analisi di modelli cellulari in cui è compromessa l’attività di GFER, proteina chiave del Disulfide Relay System 167
5 ' azacytidine enhances exogenous gene expression in skeletal muscle 167
A region in the dystrophin gene major hot-spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast 166
Totale 23.625
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Categoria #
all - tutte 66.827
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 66.827
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.663 0 103 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
2025/20266.951 706 349 602 508 591 435 786 309 554 621 867 623
2026/2027888 462 426 0 0 0 0 0 0 0 0 0 0
Totale 27.033