IRIS
MUSUMECI, Olimpia
 Distribuzione geografica
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Continente #
NA - Nord America 7.299
EU - Europa 6.770
AS - Asia 4.585
SA - Sud America 1.959
AF - Africa 121
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 5
Totale 20.745
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Nazione #
US - Stati Uniti d'America 7.148
RU - Federazione Russa 2.590
SG - Singapore 1.892
BR - Brasile 1.725
CN - Cina 1.288
IE - Irlanda 1.283
SE - Svezia 875
HK - Hong Kong 650
IT - Italia 516
DE - Germania 335
VN - Vietnam 277
PL - Polonia 265
FI - Finlandia 257
UA - Ucraina 231
GB - Regno Unito 122
IN - India 99
AR - Argentina 84
CA - Canada 62
FR - Francia 61
MX - Messico 53
NL - Olanda 53
BD - Bangladesh 50
ID - Indonesia 50
BE - Belgio 45
EC - Ecuador 43
ZA - Sudafrica 42
IQ - Iraq 39
AT - Austria 36
TR - Turchia 36
UZ - Uzbekistan 29
PY - Paraguay 28
JP - Giappone 26
CO - Colombia 25
MA - Marocco 21
ES - Italia 20
PK - Pakistan 18
VE - Venezuela 16
CZ - Repubblica Ceca 14
IR - Iran 13
TN - Tunisia 13
AZ - Azerbaigian 12
HR - Croazia 12
IL - Israele 12
PE - Perù 12
CI - Costa d'Avorio 11
CL - Cile 11
KZ - Kazakistan 11
UY - Uruguay 10
JO - Giordania 9
KE - Kenya 9
LT - Lituania 9
AE - Emirati Arabi Uniti 8
DO - Repubblica Dominicana 8
LB - Libano 8
NP - Nepal 8
OM - Oman 8
DZ - Algeria 7
EG - Egitto 7
PA - Panama 7
JM - Giamaica 6
AU - Australia 5
DK - Danimarca 5
KG - Kirghizistan 5
KW - Kuwait 5
NI - Nicaragua 5
SA - Arabia Saudita 5
TH - Thailandia 5
AL - Albania 4
BA - Bosnia-Erzegovina 4
BG - Bulgaria 4
BO - Bolivia 4
EU - Europa 4
RS - Serbia 4
AM - Armenia 3
CR - Costa Rica 3
HN - Honduras 3
HU - Ungheria 3
KH - Cambogia 3
LV - Lettonia 3
SN - Senegal 3
TW - Taiwan 3
AO - Angola 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BY - Bielorussia 2
CH - Svizzera 2
CY - Cipro 2
GR - Grecia 2
GT - Guatemala 2
MD - Moldavia 2
NG - Nigeria 2
NO - Norvegia 2
PS - Palestinian Territory 2
PT - Portogallo 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
ET - Etiopia 1
GA - Gabon 1
GD - Grenada 1
Totale 20.732
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Città #
Moscow 1.389
Dublin 1.282
Dallas 1.010
Singapore 945
Chandler 819
Ashburn 807
Hong Kong 650
Jacksonville 545
Nyköping 544
Beijing 493
Warsaw 260
Princeton 251
Medford 238
Los Angeles 211
Cambridge 197
Dearborn 190
The Dalles 178
Des Moines 175
Ann Arbor 174
Messina 163
New York 149
São Paulo 133
Buffalo 98
Ho Chi Minh City 98
Wilmington 86
Munich 78
Boardman 76
Tianjin 69
Jinan 63
San Mateo 62
Redondo Beach 59
Shenyang 59
Rio de Janeiro 57
Nanjing 53
Hanoi 47
Rome 46
Houston 42
Hyderabad 35
Ningbo 35
Belo Horizonte 33
Brussels 33
Brasília 32
Helsinki 32
Nuremberg 31
Zhengzhou 31
Curitiba 30
Dong Ket 30
Taizhou 29
Hangzhou 28
Woodbridge 28
Bremen 27
Brooklyn 27
Hebei 27
Santa Clara 27
Turku 27
Guangzhou 26
Tashkent 25
Frankfurt am Main 24
Jakarta 24
San Francisco 24
Tokyo 23
Campinas 21
Denver 21
Guarulhos 21
Johannesburg 21
Seattle 20
Stockholm 19
London 18
Nanchang 18
Orem 18
Baghdad 17
Catania 17
Chennai 17
Falls Church 17
Fortaleza 17
Porto Alegre 17
Pune 17
Chicago 16
Council Bluffs 16
Salvador 16
Amsterdam 15
Manaus 15
São José dos Campos 15
Vienna 15
Atlanta 14
Boston 14
Fuzhou 14
Mexico City 14
Milan 14
Montreal 14
Phoenix 14
Quito 14
Guayaquil 13
Haikou 13
Lancaster 13
Baku 12
Haiphong 12
Norwalk 12
Ribeirão Preto 12
Santo André 12
Totale 13.099
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Nome #
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 171
A cytochemical study of apoptosis in metabolic myopathies 166
A life threatening case of β-enolase deficiency 159
Hippo signaling pathway is altered in Duchenne muscular dystrophy 153
Auditory system involvement study in 20 patients with late-onset Pompe disease 151
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 149
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 146
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 144
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) 143
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 142
A benign case of congenital myotonic dystrophy 141
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 138
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 132
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy 130
A study of auditory system in 20 patients with late onset Pompe disease 129
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 128
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 126
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 126
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 125
Auditory system involvement study in 20 patients with lateonset pompe disease 124
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 123
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 123
A genetic modifier of symptom onset in Pompe disease 123
Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience 123
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 122
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 121
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 121
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 120
Miopatie metaboliche 120
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 120
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 120
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 120
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 118
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 117
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 117
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 114
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 114
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 113
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 110
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 110
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 109
Fatal R631C mutation is also present in the adult form of CPTII deficiency 108
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 108
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 108
Are there ERT defined guidelines for Pompe disease? 108
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 108
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 108
Amyloid myopathy presenting with rhabdomyolisis: evidence of complement activation. 107
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 107
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 106
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 106
Calpain 3 deficiency in Quail Eater's disease 105
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 105
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 105
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 105
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 104
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? 104
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 104
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. 103
Spectrum of movement disorders in mitochondrial diseases 103
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease 102
Amyloid myopathy presenting with rhabdomyolysis. 101
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 101
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 101
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 100
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 100
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) 99
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial 99
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 98
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 98
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 96
Ruolo patogenetico dei microRNAs nelle calpainopatie 95
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 94
An adult case of glycogen synthase deficiency. A new entry among metabolic myopathies. 94
Central and perypheral nervous system involvement in hereditary coproporphyria. 93
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 93
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 92
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 92
Muscle MRI in neutral lipid storage disease (NLSD) 92
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 92
The Italian Mitochondrial Registry: design and preliminary results 91
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 91
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 91
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 90
Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease 90
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 90
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone 90
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects 89
A mobile app for patients with Pompe disease and its possible clinical applications 89
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. 88
Multi-system neurological disease is common in patients with OPA1 mutations. 88
Expression of the trascription factor NFkB in different muscular dystrophies 88
Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile) 88
microRNAs as biomarkers in Pompe disease 87
Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity 86
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 86
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 86
Dolori muscolari, deficit di forza e/o disturbi sensitivi 86
Evidence of cardiovascular autonomic impairment in mitochondrial disorders 85
CPEO/parkinsonism associated with OPA1 missense mutations and mtDNA multiple deletions 85
Totale 11.009
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Categoria #
all - tutte 81.279
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 81.279
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021695 0 0 0 0 0 78 82 127 47 226 82 53
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
2025/20267.492 613 923 1.145 1.057 1.055 2.699 0 0 0 0 0 0
Totale 21.307