CINECA IRIS Institutional Research Information System

MONGINI, Tiziana Enrica
 Distribuzione geografica
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Continente #
NA - Nord America 6.872
EU - Europa 6.136
AS - Asia 1.679
AF - Africa 103
OC - Oceania 30
SA - Sud America 23
Continente sconosciuto - Info sul continente non disponibili 19
Totale 14.862
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Nazione #
US - Stati Uniti d'America 6.776
DK - Danimarca 1.587
CN - Cina 1.124
IT - Italia 918
IE - Irlanda 777
SE - Svezia 489
FR - Francia 435
DE - Germania 374
UA - Ucraina 373
FI - Finlandia 327
AT - Austria 321
KR - Corea 230
GB - Regno Unito 208
VN - Vietnam 99
PL - Polonia 94
CA - Canada 89
IN - India 57
KE - Kenya 45
BE - Belgio 42
NL - Olanda 41
CH - Svizzera 37
JP - Giappone 33
SG - Singapore 28
AU - Australia 27
SN - Senegal 26
HK - Hong Kong 25
TR - Turchia 23
GR - Grecia 21
RU - Federazione Russa 21
NG - Nigeria 20
EU - Europa 19
ES - Italia 16
BR - Brasile 12
RS - Serbia 12
IL - Israele 11
RO - Romania 9
TW - Taiwan 8
UZ - Uzbekistan 8
NO - Norvegia 7
PT - Portogallo 7
CY - Cipro 5
IR - Iran 5
TN - Tunisia 5
AL - Albania 4
PK - Pakistan 4
SI - Slovenia 4
BY - Bielorussia 3
CO - Colombia 3
EG - Egitto 3
HU - Ungheria 3
MX - Messico 3
NZ - Nuova Zelanda 3
PE - Perù 3
PH - Filippine 3
PR - Porto Rico 3
TH - Thailandia 3
CL - Cile 2
CZ - Repubblica Ceca 2
IQ - Iraq 2
LK - Sri Lanka 2
MY - Malesia 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
EC - Ecuador 1
GE - Georgia 1
GH - Ghana 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LT - Lituania 1
MA - Marocco 1
MN - Mongolia 1
MU - Mauritius 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
ZA - Sudafrica 1
Totale 14.862
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Città #
Ann Arbor 1.502
Beijing 800
Chandler 798
Dublin 776
Vienna 318
Villeurbanne 297
Torino 283
Fairfield 273
Houston 261
Ashburn 249
Princeton 243
Nyköping 242
Jacksonville 206
Medford 204
Wilmington 201
Dearborn 165
Boston 122
Seattle 106
Woodbridge 99
Warsaw 93
Cambridge 83
Hangzhou 70
Milan 67
Dong Ket 63
Redwood City 61
Turin 44
Boardman 42
Pisa 42
Padova 40
Verona 39
Hebei 38
Brussels 30
Toronto 30
Falls Church 28
Norwalk 27
Lachine 25
Hefei 24
Munich 23
Singapore 23
Nanjing 22
New York 21
Abuja 20
Kunming 19
Shanghai 19
Zurich 19
Chicago 18
Detroit 18
Chengdu 16
Fremont 15
Guiyang 13
San Diego 13
Dallas 12
Mountain View 12
Paris 12
Pune 12
Atlanta 11
Hong Kong 11
Duncan 10
Edinburgh 10
Rome 10
Washington 10
Bologna 9
Guangzhou 9
London 9
Philadelphia 9
Phoenix 9
Redmond 9
Silver Spring 9
Athens 8
Cheadle Hulme 8
Jinan 8
Melbourne 8
Nanchang 8
North Brunswick 8
Orange 8
Ottawa 8
San Mateo 8
Tokyo 8
Bollengo 7
Helsinki 7
Leiden 7
Palermo 7
Pinerolo 7
Auburn Hills 6
Caserta 6
Istanbul 6
Kharkiv 6
Kocaeli 6
Madrid 6
Montréal 6
Naples 6
Napoli 6
Taipei 6
Trento 6
Upper Marlboro 6
Wuhan 6
Belgrade 5
Brisbane 5
Central District 5
Changsha 5
Totale 8.636
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Nome #
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 283
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 275
Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. 265
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. 254
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 253
Genotype-phenotype correlation in Pompe disease, a step forward 249
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach 236
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). 218
The empowerment of translational research: lessons from laminopathies 211
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) 194
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy 188
Measuring quality of life impairment in skeletal muscle channelopathies. 182
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 181
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 179
Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. 175
LMNA-associated myopathies: the Italian experience in a large cohort of patients. 175
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. 174
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 171
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 169
Vaccination recommendations for patients with neuromuscular disease. 166
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 163
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures 157
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 157
Myoclonus in mitochondrial disorders. 156
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 155
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 152
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment 150
EFNS review on the role of muscle biopsy in the investigation of myalgia. 150
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. 150
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy 148
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 147
Prevalence of congenital muscular dystrophy in Italy: A population study 147
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 146
*ERT in the adult form of type 2 glycogenosis* 146
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency. 144
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment 141
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 130
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. 120
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes. 118
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. 117
Analysis of CHCHD2 and CHCHD10 genes in patients with Parkinson’s disease and mitochondrial myopathy. 108
Muscular involvement in Whipple's disease with gastrointestinal sparing 103
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes 102
Necrotizing myopathies: the experience of the center for neuromuscular disease in Turin. 96
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency 91
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy 90
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors 89
A peculiar case of LGMD with rimmed vacuoles 89
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. 86
Spongiform encephalopathy in addicts inhaling pre-heated heroin. 85
Clinicopathological features and disease course in three patients with focal myositis 84
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche 83
Adult onset nemaline myopathy: a distinct nosologic entity? 82
Respiratory management of acute respiratory failure in neuromuscular diseases 82
A case of to treatment with piridostigmine bromide: a new phenotype? 82
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges 81
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy 80
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy 80
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases. 80
Clinical spectrum of McArdle disease: three cases with unusual expression. 80
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. 79
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene 78
Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy. 77
A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing. 76
Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel. 75
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. 75
Approccio clinico e riabilitativo alle miopatie 74
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 74
A man with fever and bilateral limb weakness 74
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 73
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS 73
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child. 70
Body building and rhabdomyolysis. 70
Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle. 69
Investigating the role of CHCHD2 and CHCHD10 genes in Italian patients with mitochondrial myopathy. 69
null 69
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. 69
Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. 67
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 66
Cytochrome c oxidase and coenzyme Q in neuromuscular diseases: a histochemical study 66
Acute neuromuscular failure related to long-term botulinum toxin therapy. 66
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 66
The significance of minimal alterations in muscle biopsy of Duchenne carriers. 66
Variable histological expression of dystrophinopathy in two females. 65
Transcriptional behavior of DMD gene duplications in DMD/BMD males. 65
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 64
Epidemiology of Duchenne muscular dystrophy in the province of Turin. 63
Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD 63
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years. 62
Myoglobinuria and carnitine palmityl transferase deficiency in father and son. 61
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 61
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 60
Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy. 60
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry 60
Glycogen storage disease type II diagnosed in a 74-year-old woman 59
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. 59
Body building and myoglobinuria: report of three cases. 58
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 58
[Individualization of carriers of Duchenne's muscular dystrophy by quantitative methods] 57
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. 57
Totale 11.518
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Categoria #
all - tutte 41.216
article - articoli 0
book - libri 0
conference - conferenze 3.562
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 44.778
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019330 0 0 0 0 0 0 0 0 0 79 169 82
2019/20203.154 47 58 203 416 301 402 350 265 311 324 268 209
2020/20211.535 236 39 103 134 100 44 121 38 164 165 122 269
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
2023/2024993 153 254 72 67 86 176 44 59 21 61 0 0
Totale 15.614