CINECA IRIS Institutional Research Information System

MONGINI, Tiziana Enrica
 Distribuzione geografica
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Continente #
NA - Nord America 8.200
EU - Europa 6.546
AS - Asia 3.192
SA - Sud America 333
AF - Africa 117
OC - Oceania 34
Continente sconosciuto - Info sul continente non disponibili 19
Totale 18.441
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Nazione #
US - Stati Uniti d'America 8.083
DK - Danimarca 1.587
CN - Cina 1.231
SG - Singapore 1.230
IT - Italia 1.103
IE - Irlanda 781
SE - Svezia 489
FR - Francia 450
DE - Germania 440
UA - Ucraina 379
AT - Austria 352
FI - Finlandia 350
BR - Brasile 301
KR - Corea 232
GB - Regno Unito 226
HK - Hong Kong 105
VN - Vietnam 99
CA - Canada 97
PL - Polonia 95
IN - India 87
NL - Olanda 65
BE - Belgio 47
KE - Kenya 45
CH - Svizzera 42
ID - Indonesia 39
JP - Giappone 38
TR - Turchia 32
AU - Australia 31
SN - Senegal 27
RU - Federazione Russa 25
GR - Grecia 24
NG - Nigeria 21
EU - Europa 19
ES - Italia 16
IL - Israele 14
RS - Serbia 13
UZ - Uzbekistan 13
MX - Messico 12
AR - Argentina 10
RO - Romania 9
TW - Taiwan 9
CZ - Repubblica Ceca 8
IQ - Iraq 8
PT - Portogallo 8
ZA - Sudafrica 8
NO - Norvegia 7
CY - Cipro 6
IR - Iran 6
PK - Pakistan 6
AL - Albania 5
AZ - Azerbaigian 5
BD - Bangladesh 5
CO - Colombia 5
TN - Tunisia 5
BY - Bielorussia 4
EC - Ecuador 4
EG - Egitto 4
MA - Marocco 4
PE - Perù 4
PH - Filippine 4
SI - Slovenia 4
SK - Slovacchia (Repubblica Slovacca) 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
HU - Ungheria 3
LT - Lituania 3
NZ - Nuova Zelanda 3
PR - Porto Rico 3
TH - Thailandia 3
BA - Bosnia-Erzegovina 2
CL - Cile 2
JO - Giordania 2
KG - Kirghizistan 2
LI - Liechtenstein 2
LK - Sri Lanka 2
MY - Malesia 2
NP - Nepal 2
PA - Panama 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GE - Georgia 1
GH - Ghana 1
GT - Guatemala 1
KZ - Kazakistan 1
LB - Libano 1
MD - Moldavia 1
MN - Mongolia 1
MU - Mauritius 1
PY - Paraguay 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 18.441
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Città #
Ann Arbor 1.502
Beijing 806
Chandler 798
Dublin 780
Singapore 647
Santa Clara 576
Vienna 331
Villeurbanne 297
Torino 283
Ashburn 276
Fairfield 273
Houston 261
Princeton 243
Nyköping 242
Columbus 219
Jacksonville 206
Medford 204
Wilmington 201
Dearborn 165
Boston 125
Seattle 112
Woodbridge 99
Turin 95
Warsaw 93
Hong Kong 90
Milan 84
Cambridge 83
Hangzhou 70
Dong Ket 63
Redwood City 61
Hefei 49
Boardman 42
Pisa 42
Padova 40
Jakarta 39
Verona 39
Hebei 38
Munich 38
Toronto 34
Brussels 33
Guangzhou 29
Falls Church 28
Norwalk 27
Nuremberg 27
The Dalles 26
Lachine 25
Mumbai 25
Nanjing 24
New York 24
Rome 24
Zurich 24
Helsinki 23
Shanghai 22
Abuja 21
Detroit 21
Kunming 20
Chicago 19
Los Angeles 19
São Paulo 19
Chengdu 17
Dallas 17
Düsseldorf 17
Silver Spring 16
Fremont 15
Guiyang 13
Paris 13
San Diego 13
Atlanta 12
Mountain View 12
Pune 12
Athens 11
Edinburgh 11
London 11
Tokyo 11
Duncan 10
Istanbul 10
Lappeenranta 10
Phoenix 10
Washington 10
Agliè 9
Bologna 9
Ottawa 9
Philadelphia 9
Redmond 9
Rio de Janeiro 9
Cheadle Hulme 8
Falkenstein 8
Jinan 8
Melbourne 8
Nanchang 8
Naples 8
North Brunswick 8
Orange 8
San Mateo 8
Bollengo 7
Buffalo 7
Leiden 7
Palermo 7
Pinerolo 7
Wuhan 7
Totale 10.545
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Nome #
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 311
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 308
Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. 295
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach 278
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. 270
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 268
Genotype-phenotype correlation in Pompe disease, a step forward 261
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). 252
The empowerment of translational research: lessons from laminopathies 221
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy 221
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) 204
Measuring quality of life impairment in skeletal muscle channelopathies. 194
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 193
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 191
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 190
Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. 188
LMNA-associated myopathies: the Italian experience in a large cohort of patients. 187
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 187
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. 187
Vaccination recommendations for patients with neuromuscular disease. 176
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 174
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 168
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy 168
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures 167
Prevalence of congenital muscular dystrophy in Italy: A population study 167
Myoclonus in mitochondrial disorders. 166
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment 165
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 165
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 165
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. 163
EFNS review on the role of muscle biopsy in the investigation of myalgia. 163
*ERT in the adult form of type 2 glycogenosis* 160
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. 159
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency. 159
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 157
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 154
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment 146
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 143
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. 140
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes. 131
Analysis of CHCHD2 and CHCHD10 genes in patients with Parkinson’s disease and mitochondrial myopathy. 126
Muscular involvement in Whipple's disease with gastrointestinal sparing 119
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes 118
Necrotizing myopathies: the experience of the center for neuromuscular disease in Turin. 114
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy 109
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency 108
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors 108
Adult onset nemaline myopathy: a distinct nosologic entity? 106
A peculiar case of LGMD with rimmed vacuoles 105
Clinicopathological features and disease course in three patients with focal myositis 102
A case of to treatment with piridostigmine bromide: a new phenotype? 101
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. 100
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy 98
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene 97
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges 97
Spongiform encephalopathy in addicts inhaling pre-heated heroin. 94
A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing. 94
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy 94
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. 94
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 94
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases. 93
Clinical spectrum of McArdle disease: three cases with unusual expression. 93
Body building and rhabdomyolysis. 92
Respiratory management of acute respiratory failure in neuromuscular diseases 92
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche 91
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 91
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. 89
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS 89
A man with fever and bilateral limb weakness 89
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child. 88
Body building and myoglobinuria: report of three cases. 87
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 87
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 87
Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel. 85
Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy. 85
Investigating the role of CHCHD2 and CHCHD10 genes in Italian patients with mitochondrial myopathy. 84
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. 83
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 82
[Individualization of carriers of Duchenne's muscular dystrophy by quantitative methods] 81
Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. 81
Approccio clinico e riabilitativo alle miopatie 79
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry 79
The significance of minimal alterations in muscle biopsy of Duchenne carriers. 79
Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD 79
Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle. 78
Glycogen storage disease type II diagnosed in a 74-year-old woman 77
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years. 77
Early higher dosage of alglucosidase alpha in classic Pompe disease 77
Variable histological expression of dystrophinopathy in two females. 76
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys 76
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 76
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 75
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 75
Myoglobinuria and carnitine palmityl transferase deficiency in father and son. 75
[Progressive muscular dystrophy of the Duchenne type. Epidemiology and strategy for prevention] 74
Cytochrome c oxidase and coenzyme Q in neuromuscular diseases: a histochemical study 74
Acute neuromuscular failure related to long-term botulinum toxin therapy. 74
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up 74
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 73
Epidemiology of Duchenne muscular dystrophy in the province of Turin. 73
Totale 13.109
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Categoria #
all - tutte 63.455
article - articoli 0
book - libri 0
conference - conferenze 5.167
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 68.622
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020477 0 0 0 0 0 0 0 0 0 0 268 209
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
2024/20253.261 29 234 110 393 976 262 157 183 531 256 130 0
Totale 19.206