CINECA IRIS Institutional Research Information System

MONGINI, Tiziana Enrica
 Distribuzione geografica
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Continente #
NA - Nord America 7.017
EU - Europa 6.255
AS - Asia 2.181
AF - Africa 104
OC - Oceania 31
SA - Sud America 26
Continente sconosciuto - Info sul continente non disponibili 19
Totale 15.633
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Nazione #
US - Stati Uniti d'America 6.921
DK - Danimarca 1.587
CN - Cina 1.144
IT - Italia 979
IE - Irlanda 780
SE - Svezia 489
SG - Singapore 454
FR - Francia 439
DE - Germania 390
UA - Ucraina 376
FI - Finlandia 335
AT - Austria 323
KR - Corea 230
GB - Regno Unito 217
VN - Vietnam 99
PL - Polonia 94
CA - Canada 89
IN - India 57
KE - Kenya 45
BE - Belgio 43
CH - Svizzera 41
NL - Olanda 41
ID - Indonesia 39
JP - Giappone 37
HK - Hong Kong 32
AU - Australia 28
TR - Turchia 27
SN - Senegal 26
GR - Grecia 23
RU - Federazione Russa 21
NG - Nigeria 20
EU - Europa 19
ES - Italia 16
BR - Brasile 15
IL - Israele 13
RS - Serbia 12
RO - Romania 9
TW - Taiwan 8
UZ - Uzbekistan 8
NO - Norvegia 7
PT - Portogallo 7
CY - Cipro 5
CZ - Repubblica Ceca 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
IQ - Iraq 2
LI - Liechtenstein 2
LK - Sri Lanka 2
MY - Malesia 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 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
LT - Lituania 1
MA - Marocco 1
MN - Mongolia 1
MU - Mauritius 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 15.633
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Città #
Ann Arbor 1.502
Beijing 803
Chandler 798
Dublin 779
Singapore 324
Vienna 318
Villeurbanne 297
Torino 283
Fairfield 273
Houston 261
Ashburn 260
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 55
Santa Clara 44
Boardman 42
Pisa 42
Padova 40
Jakarta 39
Verona 39
Hebei 38
Munich 36
Brussels 30
Toronto 30
Falls Church 28
Norwalk 27
Lachine 25
Hefei 24
Nanjing 23
Zurich 23
New York 22
Detroit 21
Guangzhou 21
Abuja 20
Shanghai 20
Kunming 19
Chicago 18
Hong Kong 18
Chengdu 17
Fremont 15
Rome 15
Dallas 13
Guiyang 13
Los Angeles 13
San Diego 13
Helsinki 12
Mountain View 12
Paris 12
Pune 12
Atlanta 11
Edinburgh 11
Athens 10
Duncan 10
Tokyo 10
Washington 10
Bologna 9
Istanbul 9
London 9
Philadelphia 9
Phoenix 9
Redmond 9
Silver Spring 9
Cheadle Hulme 8
Jinan 8
Melbourne 8
Nanchang 8
North Brunswick 8
Orange 8
Ottawa 8
San Mateo 8
Bollengo 7
Leiden 7
Palermo 7
Pinerolo 7
Auburn Hills 6
Bergamo 6
Caserta 6
Kharkiv 6
Kocaeli 6
Lappeenranta 6
Madrid 6
Montréal 6
Naples 6
Napoli 6
Nuremberg 6
Taipei 6
Trento 6
Totale 9.109
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Nome #
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 293
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 279
Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. 274
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. 257
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach 256
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 254
Genotype-phenotype correlation in Pompe disease, a step forward 254
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). 225
The empowerment of translational research: lessons from laminopathies 213
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy 199
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) 195
Measuring quality of life impairment in skeletal muscle channelopathies. 185
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 182
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 182
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 179
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. 177
LMNA-associated myopathies: the Italian experience in a large cohort of patients. 176
Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. 175
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 174
Vaccination recommendations for patients with neuromuscular disease. 167
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 163
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 160
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 160
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures 158
Myoclonus in mitochondrial disorders. 158
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy 157
EFNS review on the role of muscle biopsy in the investigation of myalgia. 156
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment 153
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 153
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. 153
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 151
*ERT in the adult form of type 2 glycogenosis* 149
Prevalence of congenital muscular dystrophy in Italy: A population study 149
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 147
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency. 147
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment 141
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 133
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. 124
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes. 121
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. 118
Analysis of CHCHD2 and CHCHD10 genes in patients with Parkinson’s disease and mitochondrial myopathy. 110
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes 106
Muscular involvement in Whipple's disease with gastrointestinal sparing 104
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 93
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors 93
A peculiar case of LGMD with rimmed vacuoles 92
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy 91
Spongiform encephalopathy in addicts inhaling pre-heated heroin. 87
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. 87
Clinicopathological features and disease course in three patients with focal myositis 87
Adult onset nemaline myopathy: a distinct nosologic entity? 86
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. 84
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche 84
Respiratory management of acute respiratory failure in neuromuscular diseases 84
A case of to treatment with piridostigmine bromide: a new phenotype? 84
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases. 83
Clinical spectrum of McArdle disease: three cases with unusual expression. 83
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy 82
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy 82
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges 82
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene 81
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 79
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 79
Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy. 78
A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing. 78
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 78
Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel. 76
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. 76
Approccio clinico e riabilitativo alle miopatie 74
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS 74
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. 74
A man with fever and bilateral limb weakness 74
Body building and rhabdomyolysis. 73
Investigating the role of CHCHD2 and CHCHD10 genes in Italian patients with mitochondrial myopathy. 73
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child. 72
Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle. 69
null 69
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 69
Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD 69
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 68
Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. 68
Epidemiology of Duchenne muscular dystrophy in the province of Turin. 68
Cytochrome c oxidase and coenzyme Q in neuromuscular diseases: a histochemical study 67
Acute neuromuscular failure related to long-term botulinum toxin therapy. 67
The significance of minimal alterations in muscle biopsy of Duchenne carriers. 67
Variable histological expression of dystrophinopathy in two females. 66
Body building and myoglobinuria: report of three cases. 66
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 66
Transcriptional behavior of DMD gene duplications in DMD/BMD males. 66
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years. 64
[Individualization of carriers of Duchenne's muscular dystrophy by quantitative methods] 62
[Progressive muscular dystrophy of the Duchenne type. Epidemiology and strategy for prevention] 62
Myoglobinuria and carnitine palmityl transferase deficiency in father and son. 62
Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy. 62
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry 62
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 61
Glycogen storage disease type II diagnosed in a 74-year-old woman 60
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. 60
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 60
Totale 11.826
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Categoria #
all - tutte 49.574
article - articoli 0
book - libri 0
conference - conferenze 4.203
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 53.777
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.846 0 0 0 416 301 402 350 265 311 324 268 209
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
2023/20241.324 153 254 72 67 86 176 44 59 21 79 98 215
2024/2025442 29 233 109 71 0 0 0 0 0 0 0 0
Totale 16.387