IRIS
MUSUMECI, Olimpia
 Distribuzione geografica
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Continente #
EU - Europa 9.931
NA - Nord America 9.262
AS - Asia 6.022
SA - Sud America 2.121
Continente sconosciuto - Info sul continente non disponibili 594
AF - Africa 164
OC - Oceania 8
Totale 28.102
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Nazione #
US - Stati Uniti d'America 9.043
RU - Federazione Russa 5.227
SG - Singapore 2.387
BR - Brasile 1.803
CN - Cina 1.766
IE - Irlanda 1.287
SE - Svezia 876
HK - Hong Kong 691
IT - Italia 671
DE - Germania 373
VN - Vietnam 358
FR - Francia 301
PL - Polonia 271
FI - Finlandia 262
UA - Ucraina 232
IN - India 174
GB - Regno Unito 153
BD - Bangladesh 122
AR - Argentina 108
CA - Canada 87
NL - Olanda 69
MX - Messico 64
ID - Indonesia 62
IQ - Iraq 60
EC - Ecuador 54
TR - Turchia 53
ZA - Sudafrica 51
BE - Belgio 45
JP - Giappone 44
CO - Colombia 39
AT - Austria 36
PK - Pakistan 34
UZ - Uzbekistan 34
PY - Paraguay 33
ES - Italia 29
MA - Marocco 29
VE - Venezuela 29
TH - Thailandia 26
CL - Cile 22
TN - Tunisia 19
MY - Malesia 17
CZ - Repubblica Ceca 16
JO - Giordania 16
AE - Emirati Arabi Uniti 15
IL - Israele 15
KZ - Kazakistan 15
PE - Perù 15
PH - Filippine 15
AZ - Azerbaigian 14
IR - Iran 13
LB - Libano 13
OM - Oman 13
CI - Costa d'Avorio 12
HR - Croazia 12
KE - Kenya 12
NP - Nepal 12
SA - Arabia Saudita 12
DZ - Algeria 11
LT - Lituania 11
UY - Uruguay 11
DO - Repubblica Dominicana 10
CR - Costa Rica 9
EG - Egitto 9
JM - Giamaica 9
PA - Panama 8
AU - Australia 7
GT - Guatemala 7
HN - Honduras 7
BA - Bosnia-Erzegovina 6
BO - Bolivia 6
KG - Kirghizistan 6
RS - Serbia 6
BG - Bulgaria 5
DK - Danimarca 5
KW - Kuwait 5
NI - Nicaragua 5
PT - Portogallo 5
RO - Romania 5
AL - Albania 4
AM - Armenia 4
ET - Etiopia 4
EU - Europa 4
PS - Palestinian Territory 4
SN - Senegal 4
CH - Svizzera 3
GA - Gabon 3
GR - Grecia 3
HU - Ungheria 3
KH - Cambogia 3
LV - Lettonia 3
SV - El Salvador 3
TW - Taiwan 3
AO - Angola 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BY - Bielorussia 2
BZ - Belize 2
CY - Cipro 2
MD - Moldavia 2
ML - Mali 2
Totale 27.478
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Città #
Moscow 1.650
Ashburn 1.458
Dublin 1.286
Singapore 1.282
Dallas 1.023
Chandler 819
Hong Kong 691
Jacksonville 548
Nyköping 544
Beijing 530
San Jose 466
The Dalles 322
Warsaw 263
Princeton 252
Medford 238
Los Angeles 227
Lauterbourg 210
Cambridge 197
Messina 192
Dearborn 190
Des Moines 176
Ann Arbor 174
New York 165
São Paulo 140
Ho Chi Minh City 117
Buffalo 99
Wilmington 86
Council Bluffs 85
Tianjin 85
Munich 78
Boardman 76
Guangzhou 68
Santa Clara 68
Jinan 63
Hanoi 62
San Mateo 62
Orem 60
Rome 60
Shenyang 60
Redondo Beach 59
Rio de Janeiro 59
Nanjing 54
Houston 49
Frankfurt am Main 48
Tokyo 40
Nuremberg 37
Helsinki 36
Belo Horizonte 35
Chennai 35
Hyderabad 35
Ningbo 35
Zhengzhou 34
Brussels 33
Brasília 32
Brooklyn 32
San Francisco 31
Atlanta 30
Curitiba 30
Dong Ket 30
Tashkent 30
Amsterdam 29
Hangzhou 29
Jakarta 29
Taizhou 29
Chicago 28
Shenzhen 28
Woodbridge 28
Bremen 27
Catania 27
Hebei 27
Shanghai 27
Turku 27
Denver 26
Baghdad 24
Milan 24
Campinas 22
Guarulhos 22
Johannesburg 22
London 21
Seattle 20
Mexico City 19
Montreal 19
Stockholm 19
Nanchang 18
Porto Alegre 18
Quito 18
Falls Church 17
Fortaleza 17
Guayaquil 17
Phoenix 17
Pune 17
Salvador 17
Bangkok 16
Charlotte 16
Dhaka 16
Haiphong 16
Manchester 16
Boston 15
Manaus 15
São José dos Campos 15
Totale 15.830
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Nome #
A cytochemical study of apoptosis in metabolic myopathies 212
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 211
A life threatening case of β-enolase deficiency 204
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 195
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 193
Vacuolated PAS-positive lymphocytes on blood smear: An easy screening tool and a possible biomarker for monitoring therapeutic responses in Late Onset Pompe Disease (LOPD) 191
Hippo signaling pathway is altered in Duchenne muscular dystrophy 188
Auditory system involvement study in 20 patients with late-onset Pompe disease 188
A benign case of congenital myotonic dystrophy 181
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 181
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 178
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 177
A genetic modifier of symptom onset in Pompe disease 175
A study of auditory system in 20 patients with late onset Pompe disease 171
Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial 167
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy 167
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 167
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 166
Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience 166
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 166
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 166
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 159
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 159
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 159
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 158
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 158
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 158
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 157
Auditory system involvement study in 20 patients with lateonset pompe disease 157
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 157
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? 157
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 156
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 156
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 155
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 155
Dolori muscolari, deficit di forza e/o disturbi sensitivi 154
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 153
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) 152
Fatal R631C mutation is also present in the adult form of CPTII deficiency 151
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 149
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 149
Miopatie metaboliche 147
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease 146
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 145
Are there ERT defined guidelines for Pompe disease? 145
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 145
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 144
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial 144
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 142
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 142
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 142
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 141
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 140
Calpain 3 deficiency in Quail Eater's disease 140
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 140
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 139
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 137
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 137
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 137
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 136
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 135
Amyloid myopathy presenting with rhabdomyolysis. 133
Amyloid myopathy presenting with rhabdomyolisis: evidence of complement activation. 133
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 133
Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease 133
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial 133
Paraneoplastic neurological syndromes of the central nervous system: a single institution 7-year case series 133
Expression of the trascription factor NFkB in different muscular dystrophies 132
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. 131
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 130
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 129
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects 128
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 128
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 128
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 127
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 126
Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency. 126
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 123
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 123
Statins Neuromuscular Adverse Effects 121
Central and perypheral nervous system involvement in hereditary coproporphyria. 121
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 121
Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile) 120
Muscle MRI in neutral lipid storage disease (NLSD) 120
Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease 120
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis 120
Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study 119
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 119
An adult case of glycogen synthase deficiency. A new entry among metabolic myopathies. 119
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 119
CPEO/parkinsonism associated with OPA1 missense mutations and mtDNA multiple deletions 118
Methotrexate as a steroid-sparing agent in myasthenia gravis: A preliminary retrospective study 118
A mobile app for patients with Pompe disease and its possible clinical applications 117
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 116
Multi-system neurological disease is common in patients with OPA1 mutations. 116
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 115
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 114
Congenital myopathies: Clinical phenotypes and new diagnostic tools 114
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 114
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. 113
Totale 14.546
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Categoria #
all - tutte 99.283
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 99.283
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.506 8 201 16 73 69 18 137 75 32 137 174 566
2022/20233.385 301 263 174 214 247 327 47 196 1.488 14 84 30
2023/2024950 80 139 97 66 66 189 7 79 6 79 20 122
2024/20254.482 96 30 89 242 203 200 92 916 1.206 267 355 786
2025/202613.937 613 923 1.145 1.057 1.055 2.836 1.743 1.639 1.681 623 318 304
2026/2027350 350 0 0 0 0 0 0 0 0 0 0 0
Totale 28.102