IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

RONCHI, DARIO
 Distribuzione geografica
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Continente #
EU - Europa 12.838
NA - Nord America 12.735
AS - Asia 11.573
SA - Sud America 1.216
AF - Africa 286
OC - Oceania 155
Continente sconosciuto - Info sul continente non disponibili 15
Totale 38.818
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Nazione #
US - Stati Uniti d'America 12.118
CN - Cina 3.696
IT - Italia 3.057
SG - Singapore 3.021
GB - Regno Unito 2.956
DE - Germania 1.587
SE - Svezia 1.054
HK - Hong Kong 953
RU - Federazione Russa 854
BR - Brasile 823
FR - Francia 793
VN - Vietnam 759
BD - Bangladesh 729
IN - India 598
NL - Olanda 473
CA - Canada 402
TR - Turchia 376
JP - Giappone 371
FI - Finlandia 369
IE - Irlanda 326
KR - Corea 319
UA - Ucraina 237
ES - Italia 215
ID - Indonesia 193
MX - Messico 144
AU - Australia 142
DK - Danimarca 137
PL - Polonia 134
AR - Argentina 129
EU - Europa 123
CO - Colombia 122
CI - Costa d'Avorio 96
CH - Svizzera 95
BE - Belgio 89
TW - Taiwan 73
AT - Austria 70
RO - Romania 70
SA - Arabia Saudita 68
GR - Grecia 67
IQ - Iraq 55
PT - Portogallo 52
CL - Cile 47
ZA - Sudafrica 46
CZ - Repubblica Ceca 37
PH - Filippine 36
MA - Marocco 35
PK - Pakistan 34
IL - Israele 32
UZ - Uzbekistan 30
EG - Egitto 29
EC - Ecuador 28
VE - Venezuela 28
IR - Iran 27
TH - Thailandia 27
MY - Malesia 24
AE - Emirati Arabi Uniti 23
HU - Ungheria 22
NO - Norvegia 22
NP - Nepal 19
HR - Croazia 18
SK - Slovacchia (Repubblica Slovacca) 17
AZ - Azerbaigian 16
DZ - Algeria 15
CR - Costa Rica 14
PE - Perù 14
CY - Cipro 13
TN - Tunisia 13
JO - Giordania 12
NZ - Nuova Zelanda 12
KE - Kenya 11
LK - Sri Lanka 11
EE - Estonia 10
JM - Giamaica 10
LB - Libano 10
LT - Lituania 10
RS - Serbia 10
BO - Bolivia 9
UY - Uruguay 9
LV - Lettonia 8
ML - Mali 8
OM - Oman 8
SC - Seychelles 8
SI - Slovenia 8
HN - Honduras 7
LU - Lussemburgo 7
MK - Macedonia 7
PR - Porto Rico 7
BG - Bulgaria 6
BY - Bielorussia 6
KG - Kirghizistan 6
KZ - Kazakistan 6
PY - Paraguay 6
DO - Repubblica Dominicana 5
GH - Ghana 5
KH - Cambogia 5
NI - Nicaragua 5
PA - Panama 5
TT - Trinidad e Tobago 5
AL - Albania 4
MD - Moldavia 4
Totale 38.861
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Città #
Southend 2.416
Singapore 1.744
Ashburn 1.275
Hong Kong 832
Milan 817
Chandler 814
Beijing 659
San Jose 570
Dallas 530
Seattle 452
Wilmington 396
Fairfield 393
Council Bluffs 378
Frankfurt am Main 355
New York 340
Princeton 319
Dublin 314
Ann Arbor 306
Houston 299
Los Angeles 287
Woodbridge 237
Ho Chi Minh City 236
Redwood City 227
Santa Clara 227
Hanoi 218
Boardman 212
Bengaluru 201
Hefei 198
Toronto 198
Helsinki 187
Lauterbourg 173
Shanghai 170
Rome 169
Tokyo 168
Buffalo 161
Guangzhou 160
Nanjing 155
Moscow 154
Dearborn 152
Cambridge 143
Mountain View 131
Redmond 129
Des Moines 123
Jakarta 120
The Dalles 120
Jacksonville 107
Istanbul 106
Munich 106
Somerville 102
Grafing 99
Abidjan 95
Warsaw 95
Phoenix 94
São Paulo 92
Bogotá 84
Changsha 82
Columbus 80
Jinan 80
Chicago 78
Seoul 74
Naples 68
Shenyang 65
Paris 64
Sakarya 62
Amsterdam 61
Andover 61
Bologna 61
Cangzhou 59
Hangzhou 58
Nanchang 56
Serra 55
London 54
Tianjin 52
Berlin 51
Fuzhou 51
Zhengzhou 51
Atlanta 50
Nuremberg 50
Turin 49
Athens 47
Brussels 46
Madrid 44
Da Nang 43
Ottawa 43
Melbourne 42
Montreal 41
Hebei 40
Margão 40
San Diego 40
Boston 38
Ponte San Pietro 38
Shenzhen 38
Silver Spring 37
Taipei 37
Medford 36
Riyadh 36
Washington 36
Fremont 35
Barcelona 34
Genoa 34
Totale 21.142
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Nome #
The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis 1.563
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial 1.151
Rhabdomyolysis-Associated Acute Kidney Injury 932
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) 700
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease 590
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
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy 445
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 428
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms 393
Molecular Approaches for the Treatment of Pompe Disease 393
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1 380
IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI. 374
TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models 355
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature 350
Nusinersen treatment and cerebrospinal fluid neurofilaments : An explorative study on Spinal Muscular Atrophy type 3 patients 349
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy 347
Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease 324
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease 322
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency. 308
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases 308
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation 292
Intracellular Redox-Balance Involvement in Temozolomide Resistance-Related Molecular Mechanisms in Glioblastoma 283
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations 283
The mitochondrial disulfide relay system protein GFER is mutated in sutosomal-tecessive myopathy with vataract and vombined respiratory-chain deficiency 277
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
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG 268
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene 268
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy 262
Embryonic stem cell–derived neural stem cells improve spinal muscular atrophy phenotype in mice 255
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 255
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 251
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
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: More than meets the eye 243
Unleashing the potential of mRNA therapeutics for inherited neurological diseases 240
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
Mutational analysis of COQ2 in patients with MSA in Italy 235
mtDNA depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy 234
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family 231
SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis 229
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations 229
POLG1 mutations and stroke like episodes : a distinct clinical entity rather than an atypical MELAS syndrome 227
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies 227
The role of clinical and neuroimaging features in the diagnosis of CADASIL 227
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations 227
The genetic basis of undiagnosed muscular dystrophies and myopathies 225
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis 225
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
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
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
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism 208
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 207
Clinical and genetical variability in a large sample of LGMD Italian patients 206
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms 205
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 203
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review 202
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy 201
Motoneurons from human spinal muscular atrophy-induced pluripotent stem cells free of vector and transgenic sequences as a model and cell source for transplantation 201
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions 201
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients 200
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
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations 200
Aspetti clinici e molecolari in un paziente pediatrico affetto da Sindrome di Leigh associata alla mutazione mitocondriale m.14459G>A 199
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 197
Novel mutations in DNA2 associated with myopathy and mtDNA instability 197
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population 196
Pluripotent engineered stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice 195
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
Clinical pregenetic screening for stroke monogenic diseases: results from Lombardia GENS registry 192
New twinkle gene mutations in PEO patients with multiple mitochondrial DNA deletions 191
PINK1 parkinsonism and Parkinson disease : distinguishable brain mitochondrial function and metabolomics 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
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy 190
Transplantation of neural stem cells derived from engineered ESC lineage (sox2-βgeo/oct4-tk cells) improves the phenotype of a mouse model of Spinal Muscular Atrophy 189
Caratterizzazione clinica e molecolare della mutazione MERRF A8344G in una famiglia senza coinvolgimento del SNC 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
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene 185
Lafora Disease: A Case Report and Evolving Treatment Advancements 185
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 185
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study 184
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 183
Totale 28.690
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Categoria #
all - tutte 103.369
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 103.369
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021204 0 0 0 0 0 0 0 0 0 0 0 204
2021/20222.512 171 175 121 208 193 182 179 132 297 212 199 443
2022/20233.274 372 339 280 330 363 553 110 227 375 80 168 77
2023/20242.786 106 195 181 207 591 176 181 218 97 166 299 369
2024/20256.784 317 623 283 670 471 316 326 656 496 648 726 1.252
2025/202612.771 1.334 906 1.300 1.021 1.023 764 1.572 547 1.191 977 1.742 394
Totale 40.483