IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

MAGRI, FRANCESCA MARIA BENEDETTA
 Distribuzione geografica
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Continente #
NA - Nord America 12.014
EU - Europa 10.935
AS - Asia 9.454
Continente sconosciuto - Info sul continente non disponibili 1.444
SA - Sud America 959
AF - Africa 228
OC - Oceania 67
Totale 35.101
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Nazione #
US - Stati Uniti d'America 11.418
GB - Regno Unito 2.894
CN - Cina 2.772
SG - Singapore 2.599
IT - Italia 2.151
DE - Germania 1.795
BD - Bangladesh 962
SE - Svezia 958
HK - Hong Kong 816
RU - Federazione Russa 745
VN - Vietnam 716
BR - Brasile 695
FR - Francia 562
IN - India 502
CA - Canada 446
NL - Olanda 362
IE - Irlanda 300
FI - Finlandia 281
UA - Ucraina 236
KR - Corea 217
TR - Turchia 216
JP - Giappone 170
ID - Indonesia 154
EU - Europa 123
ES - Italia 98
CO - Colombia 88
PL - Polonia 82
DK - Danimarca 81
BE - Belgio 78
CI - Costa d'Avorio 77
AR - Argentina 73
MX - Messico 69
GR - Grecia 57
AU - Australia 54
CH - Svizzera 50
ZA - Sudafrica 45
AT - Austria 38
IQ - Iraq 37
RO - Romania 32
TW - Taiwan 31
EC - Ecuador 27
PH - Filippine 27
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
VE - Venezuela 17
CR - Costa Rica 16
AE - Emirati Arabi Uniti 15
SA - Arabia Saudita 15
PT - Portogallo 14
PY - Paraguay 14
BG - Bulgaria 13
CY - Cipro 13
NZ - Nuova Zelanda 13
IR - Iran 12
NP - Nepal 12
PE - Perù 12
MY - Malesia 11
TN - Tunisia 11
AZ - Azerbaigian 10
LK - Sri Lanka 10
LU - Lussemburgo 10
KE - Kenya 9
PA - Panama 9
IL - Israele 8
LT - Lituania 8
SC - Seychelles 8
DO - Repubblica Dominicana 7
GE - Georgia 7
GT - Guatemala 7
HN - Honduras 7
OM - Oman 7
PS - Palestinian Territory 7
AL - Albania 6
AM - Armenia 6
HU - Ungheria 6
JM - Giamaica 6
JO - Giordania 6
RS - Serbia 6
SK - Slovacchia (Repubblica Slovacca) 6
TT - Trinidad e Tobago 6
UY - Uruguay 6
BO - Bolivia 5
BY - Bielorussia 5
ML - Mali 5
MO - Macao, regione amministrativa speciale della Cina 5
EE - Estonia 4
ET - Etiopia 4
KG - Kirghizistan 4
KZ - Kazakistan 4
LV - Lettonia 4
PR - Porto Rico 4
QA - Qatar 4
GL - Groenlandia 3
Totale 33.728
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Città #
Southend 2.555
Singapore 1.496
Ashburn 1.230
Chandler 790
Hong Kong 744
Sunnyvale 617
Milan 551
Beijing 522
San Jose 511
Dallas 456
Seattle 434
Frankfurt am Main 428
Fairfield 367
Wilmington 329
Santa Clara 325
Dublin 297
Princeton 297
Los Angeles 289
Council Bluffs 285
New York 263
Ann Arbor 243
Houston 225
Toronto 216
Woodbridge 208
Hanover 198
Ho Chi Minh City 192
Bengaluru 173
Hanoi 173
Nanjing 150
Lauterbourg 147
Jacksonville 146
Hefei 145
Dearborn 143
Boardman 141
Cambridge 135
Rome 129
Buffalo 127
Helsinki 126
Redwood City 116
Moscow 110
Redmond 109
Des Moines 108
Guangzhou 108
Mountain View 108
Columbus 97
Jakarta 95
Shanghai 95
Jinan 90
Tokyo 90
Phoenix 89
Munich 86
Abidjan 77
The Dalles 76
São Paulo 74
Changsha 71
Cangzhou 69
Somerville 65
Bogotá 64
Tianjin 62
Sakarya 60
Andover 59
Naples 59
Grafing 57
Margão 57
Serra 57
Shenyang 55
Fuzhou 50
Dong Ket 49
Warsaw 49
Brussels 47
Montreal 47
Chicago 44
Seoul 44
Nuremberg 42
Atlanta 41
Berlin 40
Turin 40
London 39
Nanchang 39
Kiez 38
Zhengzhou 38
Boston 37
Ottawa 36
Da Nang 35
Shenzhen 35
Bologna 34
Allentown 33
Athens 33
Hebei 32
Bitonto 31
San Diego 31
Washington 31
Turku 29
Madrid 28
Mumbai 28
Amsterdam 26
Hangzhou 26
Palermo 26
Paris 26
Haiphong 24
Totale 19.294
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Nome #
The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis 2.203
Respiratory pattern in an adult population of dystrophic patients 542
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives 542
Anti-sulfatide reactivity in patients with celiac disease 484
Histological effects of givinostat in boys with Duchenne muscular dystrophy 454
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 435
La canalopatia del cloro : diagnosi clinica differenziale 395
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy 392
Nusinersen treatment and cerebrospinal fluid neurofilaments : An explorative study on Spinal Muscular Atrophy type 3 patients 373
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature 366
Central nervous system involvement in common variable immunodeficiency: A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient 357
Ophthalmoplegia due to Miller Fisher syndrome in a patient with myasthenia gravis 341
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing 332
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 329
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases 327
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies 324
Myotonia congenita : novel mutations in CLCN1 gene and functional characterizations in Italian patients 305
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 304
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene 288
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature 277
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 270
6 minute walk test in duchenne MD patients with different mutations : 12 month changes 267
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 266
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: More than meets the eye 257
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4 257
Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population 255
Reading frame nelle distrofinopatie: le regole delle eccezioni 255
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family 255
Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes 253
Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari 251
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies 250
Genetic modifiers of duchenne muscular dystrophy and dilated cardiomyopathy 248
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction 246
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up 244
Therapeutic Development in Amyotrophic Lateral Sclerosis 244
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 243
Limb-Girdle muscular dystrophies : clinical features and genetic frequency in a large Italian population 242
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne 242
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 242
SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis 241
Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases 240
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction 236
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 233
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 233
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 233
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy 229
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 229
Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene 228
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 228
Direct reprogramming of human astrocytes into neural stem cells and neurons 227
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 227
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 226
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 225
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation 225
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study 225
Dysferlinopathies: clinical and genetic correlation in a large population 222
Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature 222
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene 220
A stop codon mutation in the 5’ of the dystrophin gene associated to a Becker muscular dystrophy phenotype 220
Redefining clinical phenotype in a large color of Italian non-dystrophic myotonic patients. 220
Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy 219
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families 217
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 214
Neuroborreliosis mimicking a paraneoplastic syndrome 213
Clinical and genetical variability in a large sample of LGMD Italian patients 213
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions 212
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 212
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients 210
Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study. 209
Autosomal recessive myopathy without inclusion bodies caused by GNE gene mutation. 205
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida. 205
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy 204
miRNA in spinal muscular atrophy pathogenesis and therapy 202
The limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population 198
New mutations in SCN4A and their biophysical properties 197
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 196
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient 196
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 196
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 195
The expanding spectrum of LAMA2 gene mutations : from congenital muscular dystrophy 1A to limb girdle muscular dystrophy 2R 195
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 193
Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients 193
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 193
Genetic correction of spinal muscular atrophy-induced pluripotent stem cells and motoneurons as a disease model and cell source for transplantation 192
The Italian registry of limb girdle muscular dystrophy : natural history, genotype-phenotype correlations and outcome measures 192
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 191
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 190
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study 188
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy 188
Genotype and phenotype correlation in dysferlinopathies 186
A novel GENE mutations causes familial recessive myopathy without inclusion bodies 185
Clinical and genetic heterogeneity of dysferlin deficiency 185
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 185
Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients 184
Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis 183
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay 181
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies 178
Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S genes in patients with muscle channelopathies. 178
Dysferlinopathies : muscle annexin A1 and A2 expression levels correlate with clinical phenotype in a large group of genetically diagnosed patients 177
Molecular etiopathogenesis of Limb Girdle Muscular and Congenital Muscular Dystrophies: boundaries and contiguities 174
Totale 26.770
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Categoria #
all - tutte 87.510
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 87.510
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20222.298 0 151 132 208 176 204 199 127 338 179 157 427
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
2025/202610.144 954 664 989 703 790 603 1.275 408 906 737 1.202 913
2026/20271.883 764 1.119 0 0 0 0 0 0 0 0 0 0
Totale 35.101