CINECA IRIS Institutional Research Information System

MONGINI, Tiziana Enrica
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 6179
EU - Europa 5974
AS - Asia 1584
AF - Africa 81
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 19
SA - Sud America 18
Totale 13879
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 6086
DK - Danimarca 1587
CN - Cina 1089
IT - Italia 830
IE - Irlanda 761
SE - Svezia 487
FR - Francia 427
UA - Ucraina 372
DE - Germania 370
AT - Austria 320
FI - Finlandia 319
KR - Corea 229
GB - Regno Unito 202
VN - Vietnam 99
PL - Polonia 94
CA - Canada 87
BE - Belgio 58
KE - Kenya 45
IN - India 44
NL - Olanda 36
JP - Giappone 32
SN - Senegal 26
AU - Australia 21
TR - Turchia 20
CH - Svizzera 19
EU - Europa 19
RU - Federazione Russa 16
ES - Italia 15
GR - Grecia 15
HK - Hong Kong 14
RS - Serbia 10
BR - Brasile 9
IL - Israele 9
UZ - Uzbekistan 8
NO - Norvegia 7
PT - Portogallo 7
RO - Romania 7
TW - Taiwan 7
CY - Cipro 5
SG - Singapore 5
AL - Albania 4
IR - Iran 4
PK - Pakistan 4
CO - Colombia 3
EG - Egitto 3
NZ - Nuova Zelanda 3
PE - Perù 3
PH - Filippine 3
PR - Porto Rico 3
TH - Thailandia 3
TN - Tunisia 3
CZ - Repubblica Ceca 2
HU - Ungheria 2
MX - Messico 2
MY - Malesia 2
SI - Slovenia 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
BY - Bielorussia 1
CL - Cile 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
ZA - Sudafrica 1
Totale 13879
Salva come PNG Salva come JPEG
Città #
Ann Arbor 1502
Chandler 801
Beijing 798
Dublin 760
Vienna 318
Villeurbanne 297
Torino 283
Fairfield 273
Houston 261
Princeton 245
Nyköping 242
Jacksonville 205
Medford 204
Wilmington 201
Dearborn 165
Boston 122
Woodbridge 99
Warsaw 93
Cambridge 83
Seattle 80
Ashburn 72
Hangzhou 70
Dong Ket 63
Milan 61
Redwood City 61
Brussels 49
Boardman 42
Pisa 42
Verona 39
Hebei 38
Padova 38
Turin 30
Toronto 29
Falls Church 28
Norwalk 27
Lachine 25
Hefei 24
Munich 22
Nanjing 22
Kunming 19
Chicago 18
Detroit 18
Shanghai 18
Chengdu 16
Fremont 15
Guiyang 13
San Diego 13
London 12
Mountain View 12
Dallas 11
Paris 11
Duncan 10
Edinburgh 10
New York 10
Atlanta 9
Guangzhou 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
Tokyo 8
Bollengo 7
Bologna 7
Hanover 7
Leiden 7
Pinerolo 7
Zurich 7
Auburn Hills 6
Caserta 6
Kharkiv 6
Kocaeli 6
Madrid 6
Montréal 6
Napoli 6
Taipei 6
Upper Marlboro 6
Belgrade 5
Central District 5
Egham 5
Fuzhou 5
Iowa City 5
Modena 5
New Haven 5
Rome 5
Seoul 5
Trento 5
Buffalo 4
Carpi 4
Châtillon 4
Durham 4
Kirkby In Ashfield 4
Leeds 4
Totale 8316
Salva come PNG Salva come JPEG
Nome #
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 271
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 266
Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. 255
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. 252
Genotype-phenotype correlation in Pompe disease, a step forward 248
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 243
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). 212
The empowerment of translational research: lessons from laminopathies 207
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach 202
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) 193
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 177
Measuring quality of life impairment in skeletal muscle channelopathies. 176
LMNA-associated myopathies: the Italian experience in a large cohort of patients. 174
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. 173
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. 170
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. 166
Vaccination recommendations for patients with neuromuscular disease. 165
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 165
Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. 163
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy 160
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 159
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures 156
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 156
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 153
Myoclonus in mitochondrial disorders. 151
EFNS review on the role of muscle biopsy in the investigation of myalgia. 148
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. 148
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 145
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 144
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 142
Prevalence of congenital muscular dystrophy in Italy: A population study 142
Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment 141
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy 141
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency. 141
*ERT in the adult form of type 2 glycogenosis* 139
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment 132
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 126
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes. 116
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. 113
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. 108
Muscular involvement in Whipple's disease with gastrointestinal sparing 97
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes 96
Analysis of CHCHD2 and CHCHD10 genes in patients with Parkinson’s disease and mitochondrial myopathy. 96
Necrotizing myopathies: the experience of the center for neuromuscular disease in Turin. 93
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency 86
A peculiar case of LGMD with rimmed vacuoles 86
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy 83
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors 82
Spongiform encephalopathy in addicts inhaling pre-heated heroin. 81
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. 81
Clinicopathological features and disease course in three patients with focal myositis 81
A case of to treatment with piridostigmine bromide: a new phenotype? 80
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges 78
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy 77
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases. 77
Adult onset nemaline myopathy: a distinct nosologic entity? 76
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene 76
Clinical spectrum of McArdle disease: three cases with unusual expression. 76
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche 75
Respiratory management of acute respiratory failure in neuromuscular diseases 74
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. 73
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. 71
Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy. 71
A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing. 71
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation 70
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS 70
Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel. 69
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy 68
Approccio clinico e riabilitativo alle miopatie 68
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child. 67
Investigating the role of CHCHD2 and CHCHD10 genes in Italian patients with mitochondrial myopathy. 67
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 66
Body building and rhabdomyolysis. 65
A man with fever and bilateral limb weakness 65
Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle. 64
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys 64
Variable histological expression of dystrophinopathy in two females. 63
Cytochrome c oxidase and coenzyme Q in neuromuscular diseases: a histochemical study 63
The significance of minimal alterations in muscle biopsy of Duchenne carriers. 63
Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. 62
Transcriptional behavior of DMD gene duplications in DMD/BMD males. 62
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. 62
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 61
Epidemiology of Duchenne muscular dystrophy in the province of Turin. 61
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 61
Myoglobinuria and carnitine palmityl transferase deficiency in father and son. 59
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 59
Acute neuromuscular failure related to long-term botulinum toxin therapy. 58
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. 58
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years. 58
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 57
Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD 57
Body building and myoglobinuria: report of three cases. 56
Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy. 56
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. 55
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 55
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry 55
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 55
[Individualization of carriers of Duchenne's muscular dystrophy by quantitative methods] 54
The genetic basis of undiagnosed muscular dystrophies and myopathies 54
Totale 10983
Salva come PNG Salva come JPEG
Categoria #
all - tutte 26996
article - articoli 0
book - libri 0
conference - conferenze 2476
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29472
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201823 0000 00 00 00023
2018/2019941 53164761 40105 79138 727916982
2019/20203154 4758203416 301402 350265 311324268209
2020/20211535 23639103134 10044 12138 164165122269
2021/20223029 220184201301 216232 219200 155112457532
2022/20232942 31723488242 248749 299186 344921430
Totale 14613