IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

MAGRI, FRANCESCA MARIA BENEDETTA
 Distribuzione geografica
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Continente #
EU - Europa 10.610
NA - Nord America 10.270
AS - Asia 9.012
SA - Sud America 933
AF - Africa 228
OC - Oceania 67
Continente sconosciuto - Info sul continente non disponibili 14
Totale 31.134
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Nazione #
US - Stati Uniti d'America 9.782
GB - Regno Unito 2.893
CN - Cina 2.770
SG - Singapore 2.580
IT - Italia 1.861
DE - Germania 1.788
SE - Svezia 958
HK - Hong Kong 816
RU - Federazione Russa 745
VN - Vietnam 707
BR - Brasile 682
BD - Bangladesh 558
FR - Francia 555
IN - India 501
CA - Canada 365
NL - Olanda 358
IE - Irlanda 300
FI - Finlandia 281
UA - Ucraina 236
KR - Corea 217
TR - Turchia 216
JP - Giappone 170
ID - Indonesia 152
EU - Europa 123
ES - Italia 95
CO - Colombia 84
DK - Danimarca 81
CI - Costa d'Avorio 77
BE - Belgio 76
PL - Polonia 74
AR - Argentina 69
MX - Messico 65
GR - Grecia 57
AU - Australia 54
CH - Svizzera 49
ZA - Sudafrica 45
AT - Austria 38
IQ - Iraq 37
RO - Romania 32
TW - Taiwan 30
EC - Ecuador 26
PH - Filippine 26
PK - Pakistan 26
EG - Egitto 23
NO - Norvegia 23
CL - Cile 21
UZ - Uzbekistan 21
CZ - Repubblica Ceca 19
DZ - Algeria 18
MA - Marocco 18
TH - Thailandia 18
SA - Arabia Saudita 15
VE - Venezuela 15
AE - Emirati Arabi Uniti 14
PT - Portogallo 14
BG - Bulgaria 13
CR - Costa Rica 13
CY - Cipro 13
NZ - Nuova Zelanda 13
PY - Paraguay 13
NP - Nepal 12
IR - Iran 11
PE - Perù 11
TN - Tunisia 11
AZ - Azerbaigian 10
LK - Sri Lanka 10
LU - Lussemburgo 10
MY - Malesia 10
KE - Kenya 9
PA - Panama 9
IL - Israele 8
LT - Lituania 8
SC - Seychelles 8
GE - Georgia 7
OM - Oman 7
PS - Palestinian Territory 7
AL - Albania 6
AM - Armenia 6
DO - Repubblica Dominicana 6
GT - Guatemala 6
HU - Ungheria 6
JO - Giordania 6
SK - Slovacchia (Repubblica Slovacca) 6
UY - Uruguay 6
BO - Bolivia 5
JM - Giamaica 5
ML - Mali 5
MO - Macao, regione amministrativa speciale della Cina 5
RS - Serbia 5
BY - Bielorussia 4
EE - Estonia 4
ET - Etiopia 4
HN - Honduras 4
KG - Kirghizistan 4
KZ - Kazakistan 4
LV - Lettonia 4
PR - Porto Rico 4
QA - Qatar 4
GL - Groenlandia 3
KH - Cambogia 3
Totale 31.202
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Città #
Southend 2.555
Singapore 1.487
Ashburn 1.119
Chandler 790
Hong Kong 744
Beijing 520
Milan 518
San Jose 498
Dallas 442
Seattle 433
Frankfurt am Main 426
Fairfield 367
Wilmington 325
Dublin 297
Princeton 297
Council Bluffs 273
Ann Arbor 242
Los Angeles 242
New York 231
Houston 222
Woodbridge 206
Toronto 204
Hanover 198
Ho Chi Minh City 188
Santa Clara 181
Bengaluru 173
Hanoi 171
Nanjing 150
Lauterbourg 147
Hefei 145
Jacksonville 144
Dearborn 143
Boardman 140
Cambridge 135
Helsinki 126
Redwood City 116
Buffalo 111
Moscow 110
Redmond 109
Guangzhou 108
Mountain View 108
Des Moines 107
Jakarta 95
Shanghai 95
Rome 94
Columbus 93
Jinan 90
Tokyo 90
Munich 86
Phoenix 83
Abidjan 77
The Dalles 76
São Paulo 73
Changsha 71
Cangzhou 69
Somerville 64
Bogotá 63
Tianjin 62
Sakarya 60
Andover 59
Grafing 57
Margão 57
Serra 57
Shenyang 55
Fuzhou 50
Dong Ket 49
Warsaw 49
Brussels 45
Seoul 44
Naples 42
Nuremberg 42
Berlin 40
Nanchang 39
Kiez 38
Zhengzhou 38
Boston 37
Chicago 37
London 37
Montreal 36
Shenzhen 35
Da Nang 34
Turin 34
Allentown 32
Athens 32
Hebei 32
Ottawa 32
Bitonto 31
San Diego 31
Bologna 30
Atlanta 29
Turku 29
Madrid 28
Mumbai 28
Washington 28
Amsterdam 26
Hangzhou 26
Paris 26
Haiphong 24
Johannesburg 24
Nürnberg 23
Totale 18.111
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Nome #
The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis 1.563
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives 533
Anti-sulfatide reactivity in patients with celiac disease 472
Histological effects of givinostat in boys with Duchenne muscular dystrophy 431
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 420
La canalopatia del cloro : diagnosi clinica differenziale 387
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy 382
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
Ophthalmoplegia due to Miller Fisher syndrome in a patient with myasthenia gravis 328
Central nervous system involvement in common variable immunodeficiency: A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient 326
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies 317
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing 313
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 313
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases 308
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 299
Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients 294
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene 268
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature 265
6 minute walk test in duchenne MD patients with different mutations : 12 month changes 256
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 251
Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes 251
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4 251
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 247
Genetic modifiers of duchenne muscular dystrophy and dilated cardiomyopathy 247
Reading frame nelle distrofinopatie: le regole delle eccezioni 246
Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari 246
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: More than meets the eye 243
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies 241
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 239
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction 238
Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population 236
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne 236
Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases 233
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 232
Limb-Girdle muscular dystrophies : clinical features and genetic frequency in a large Italian population 232
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family 231
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up 231
Therapeutic Development in Amyotrophic Lateral Sclerosis 231
SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis 229
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 227
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 226
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 224
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 223
Dysferlinopathies: clinical and genetic correlation in a large population 222
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 221
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction 220
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 218
Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene 217
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 216
Direct reprogramming of human astrocytes into neural stem cells and neurons 215
Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies : evidence from a safety study with pilot efficacy measures in adult dystrophic patients 215
A stop codon mutation in the 5’ of the dystrophin gene associated to a Becker muscular dystrophy phenotype 214
Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature 214
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study 214
Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy 213
Redefining clinical phenotype in a large color of Italian non-dystrophic myotonic patients. 212
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation 209
Neuroborreliosis mimicking a paraneoplastic syndrome 207
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 207
Clinical and genetical variability in a large sample of LGMD Italian patients 206
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy 206
Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study. 205
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients 202
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
Autosomal recessive myopathy without inclusion bodies caused by GNE gene mutation. 198
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population 196
New mutations in SCN4A and their biophysical properties 195
miRNA in spinal muscular atrophy pathogenesis and therapy 195
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 195
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families 194
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
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 189
Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons 188
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 188
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene 185
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 185
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 183
Genotype and phenotype correlation in dysferlinopathies 182
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient 182
A novel GENE mutations causes familial recessive myopathy without inclusion bodies 181
Clinical and genetic heterogeneity of dysferlin deficiency 181
The Italian registry of limb girdle muscular dystrophy : natural history, genotype-phenotype correlations and outcome measures 181
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 180
Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies. 178
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay 175
Genetic correction of spinal muscular atrophy-induced pluripotent stem cells and motoneurons as a disease model and cell source for transplantation 175
The expanding spectrum of LAMA2 gene mutations : from congenital muscular dystrophy 1A to limb girdle muscular dystrophy 2R 175
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy 175
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies 174
Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis 174
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 173
Dysferlinopathies : muscle annexin A1 and A2 expression levels correlate with clinical phenotype in a large group of genetically diagnosed patients 173
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study 171
Nuova mutazione intronica nel gene della distrofina determinante inserzione di un pseudo esone in paziente DMD 170
A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells 170
Molecular etiopathogenesis of Limb Girdle Muscular and Congenital Muscular Dystrophies: boundaries and contiguities 169
Totale 24.718
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Categoria #
all - tutte 82.091
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 82.091
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021257 0 0 0 0 0 0 0 0 0 0 0 257
2021/20222.507 209 151 132 208 176 204 199 127 338 179 157 427
2022/20232.740 374 359 233 285 270 454 95 157 313 41 116 43
2023/20241.933 57 122 116 122 423 145 132 184 55 106 200 271
2024/20254.463 210 406 147 473 312 180 191 407 259 473 470 935
2025/20269.489 954 664 989 703 790 603 1.275 408 906 737 1.203 257
Totale 32.563