CINECA IRIS Institutional Research Information System

MONGINI, Tiziana Enrica
 Distribuzione geografica
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Continente #
NA - Nord America 12.379
EU - Europa 7.652
AS - Asia 7.472
SA - Sud America 1.142
AF - Africa 234
OC - Oceania 43
Continente sconosciuto - Info sul continente non disponibili 19
Totale 28.941
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Nazione #
US - Stati Uniti d'America 12.091
SG - Singapore 3.085
CN - Cina 1.990
DK - Danimarca 1.588
IT - Italia 1.401
BR - Brasile 918
IE - Irlanda 787
VN - Vietnam 785
FR - Francia 719
DE - Germania 603
SE - Svezia 504
FI - Finlandia 405
UA - Ucraina 394
KR - Corea 390
AT - Austria 366
GB - Regno Unito 327
HK - Hong Kong 287
IN - India 223
CA - Canada 170
BD - Bangladesh 125
JP - Giappone 125
PL - Polonia 123
NL - Olanda 108
AR - Argentina 85
ID - Indonesia 77
IQ - Iraq 70
MX - Messico 68
TR - Turchia 59
KE - Kenya 49
BE - Belgio 47
RU - Federazione Russa 47
CH - Svizzera 46
ES - Italia 42
AU - Australia 39
ZA - Sudafrica 39
PK - Pakistan 37
SN - Senegal 32
EC - Ecuador 31
CO - Colombia 28
GR - Grecia 28
UZ - Uzbekistan 25
NG - Nigeria 21
EU - Europa 19
IL - Israele 19
TN - Tunisia 19
EG - Egitto 18
MA - Marocco 18
PH - Filippine 18
VE - Venezuela 18
RS - Serbia 17
CL - Cile 16
RO - Romania 16
TW - Taiwan 16
JO - Giordania 15
PE - Perù 15
PY - Paraguay 15
AE - Emirati Arabi Uniti 12
CZ - Repubblica Ceca 12
NP - Nepal 12
CY - Cipro 11
PT - Portogallo 11
AZ - Azerbaigian 10
DZ - Algeria 10
ET - Etiopia 10
MY - Malesia 10
IR - Iran 9
LT - Lituania 9
SA - Arabia Saudita 9
UY - Uruguay 9
CR - Costa Rica 8
JM - Giamaica 8
LB - Libano 8
TH - Thailandia 8
AL - Albania 7
AO - Angola 7
DO - Repubblica Dominicana 7
KZ - Kazakistan 7
NO - Norvegia 7
SI - Slovenia 7
BY - Bielorussia 6
OM - Oman 6
BO - Bolivia 5
GT - Guatemala 5
HN - Honduras 5
PA - Panama 5
BA - Bosnia-Erzegovina 4
GE - Georgia 4
HU - Ungheria 4
KG - Kirghizistan 4
NZ - Nuova Zelanda 4
SK - Slovacchia (Repubblica Slovacca) 4
BB - Barbados 3
EE - Estonia 3
LK - Sri Lanka 3
PR - Porto Rico 3
BG - Bulgaria 2
BH - Bahrain 2
CG - Congo 2
GY - Guiana 2
HR - Croazia 2
Totale 28.909
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Città #
Singapore 1.687
Ann Arbor 1.502
San Jose 1.450
Beijing 1.055
Chandler 798
Dublin 784
Ashburn 685
Santa Clara 637
Dallas 432
Vienna 335
Villeurbanne 297
Torino 283
Fairfield 275
Houston 272
Hong Kong 250
Princeton 243
Ho Chi Minh City 242
Nyköping 242
Columbus 237
The Dalles 234
Los Angeles 226
Lauterbourg 223
Jacksonville 207
Medford 205
Wilmington 202
Dearborn 165
Hanoi 160
Seoul 157
Hefei 151
Buffalo 138
Boston 133
Munich 127
Seattle 125
Turin 122
New York 116
Warsaw 115
Milan 111
Woodbridge 100
Tokyo 89
São Paulo 86
Cambridge 83
Boardman 70
Hangzhou 70
Dong Ket 63
Redwood City 61
Frankfurt am Main 60
Toronto 55
Bengaluru 53
Rome 51
Council Bluffs 50
Orem 49
Jakarta 48
Chicago 47
Pisa 43
Redondo Beach 42
Helsinki 41
Memphis 40
Padova 40
Verona 40
Hebei 38
Nuremberg 38
Mumbai 36
Haiphong 35
Atlanta 34
London 34
Brussels 33
Guangzhou 33
Shanghai 32
Phoenix 29
Chennai 28
Falls Church 28
Baghdad 27
Norwalk 27
Rio de Janeiro 27
Zurich 27
Nanjing 26
Da Nang 25
Lachine 25
Mexico City 25
Turku 25
Brooklyn 24
Amsterdam 23
Abuja 21
Detroit 21
Paris 21
Chengdu 20
Denver 20
Dhaka 20
Johannesburg 20
Kunming 20
Curitiba 19
Hải Dương 18
Lappeenranta 18
Manchester 18
Montreal 18
Belo Horizonte 17
Düsseldorf 17
Istanbul 17
San Diego 17
Washington 17
Totale 16.922
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Nome #
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 393
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach 359
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 356
Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. 349
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. 321
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy 308
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 299
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). 299
Genotype-phenotype correlation in Pompe disease, a step forward 297
The empowerment of translational research: lessons from laminopathies 259
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) 251
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. 249
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 243
Measuring quality of life impairment in skeletal muscle channelopathies. 239
Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. 238
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 237
LMNA-associated myopathies: the Italian experience in a large cohort of patients. 236
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 231
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 230
Vaccination recommendations for patients with neuromuscular disease. 228
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy 222
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 220
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency. 219
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 217
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures 213
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 211
Prevalence of congenital muscular dystrophy in Italy: A population study 211
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 210
Myoclonus in mitochondrial disorders. 210
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. 209
*ERT in the adult form of type 2 glycogenosis* 206
EFNS review on the role of muscle biopsy in the investigation of myalgia. 201
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 198
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment 195
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 194
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment 190
Analysis of CHCHD2 and CHCHD10 genes in patients with Parkinson’s disease and mitochondrial myopathy. 186
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 185
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. 184
X-linked Charcot-Marie-Tooth polyneuropathy due to mutation of the connexin-32 gene: revision of our cases of genetic neuropathies and identification of three affected families. 180
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes. 179
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes 176
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors 169
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy 162
A peculiar case of LGMD with rimmed vacuoles 162
A man with fever and bilateral limb weakness 161
A case of to treatment with piridostigmine bromide: a new phenotype? 159
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 159
Necrotizing myopathies: the experience of the center for neuromuscular disease in Turin. 159
Clinicopathological features and disease course in three patients with focal myositis 157
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency 156
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy 155
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 150
Muscular involvement in Whipple's disease with gastrointestinal sparing 150
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges 150
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. 149
Adult onset nemaline myopathy: a distinct nosologic entity? 146
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene 145
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy 144
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 144
[Individualization of carriers of Duchenne's muscular dystrophy by quantitative methods] 143
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS 143
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 143
A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing. 141
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 141
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child. 136
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up 136
Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD 136
Body building and rhabdomyolysis. 135
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry 135
Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene. 134
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report 132
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014 132
Early higher dosage of alglucosidase alpha in classic Pompe disease 130
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data 129
Spongiform encephalopathy in addicts inhaling pre-heated heroin. 128
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche 128
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases. 128
Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. 127
Respiratory management of acute respiratory failure in neuromuscular diseases 127
Body building and myoglobinuria: report of three cases. 126
[Progressive muscular dystrophy of the Duchenne type. Epidemiology and strategy for prevention] 125
Unusual symptoms and pathology in a woman with myofibrillar myopathy. 125
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 124
Clinical spectrum of McArdle disease: three cases with unusual expression. 124
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients 124
The significance of minimal alterations in muscle biopsy of Duchenne carriers. 123
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. 122
Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy. 122
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 122
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review 122
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024 121
Variable histological expression of dystrophinopathy in two females. 120
Glycogen storage disease type II diagnosed in a 74-year-old woman 120
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 119
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years. 119
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. 119
Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel. 118
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 118
Assessing cognitive function in neuromuscular diseases: A pilot study in a sample of children and adolescents 118
Totale 17.930
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Categoria #
all - tutte 92.919
article - articoli 0
book - libri 0
conference - conferenze 7.025
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 99.944
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021269 0 0 0 0 0 0 0 0 0 0 0 269
2021/20223.029 220 184 201 301 216 232 219 200 155 112 457 532
2022/20232.950 315 234 88 242 246 746 254 179 329 88 140 89
2023/20241.324 153 254 72 67 86 176 44 59 21 79 98 215
2024/20254.236 29 234 110 393 976 262 157 183 531 256 353 752
2025/20269.617 724 483 886 1.157 1.139 463 1.333 486 730 1.295 581 340
Totale 29.798