IRIS
MUSUMECI, Olimpia
 Distribuzione geografica
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Continente #
NA - Nord America 4.719
EU - Europa 3.878
AS - Asia 2.119
SA - Sud America 1.361
AF - Africa 63
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 5
Totale 12.150
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Nazione #
US - Stati Uniti d'America 4.650
IE - Irlanda 1.282
BR - Brasile 1.240
SG - Singapore 878
SE - Svezia 855
CN - Cina 853
IT - Italia 479
DE - Germania 253
FI - Finlandia 235
PL - Polonia 233
UA - Ucraina 228
GB - Regno Unito 70
IN - India 64
HK - Hong Kong 56
BE - Belgio 45
RU - Federazione Russa 43
NL - Olanda 41
AR - Argentina 38
FR - Francia 37
VN - Vietnam 33
UZ - Uzbekistan 27
IQ - Iraq 26
TR - Turchia 26
BD - Bangladesh 25
CA - Canada 25
EC - Ecuador 24
AT - Austria 23
MX - Messico 21
ID - Indonesia 19
MA - Marocco 17
ZA - Sudafrica 17
PK - Pakistan 14
VE - Venezuela 13
IR - Iran 12
HR - Croazia 11
PY - Paraguay 11
CO - Colombia 10
CZ - Repubblica Ceca 10
PE - Perù 10
AZ - Azerbaigian 9
JO - Giordania 9
NP - Nepal 8
TN - Tunisia 8
IL - Israele 7
KE - Kenya 7
KZ - Kazakistan 7
PA - Panama 7
DZ - Algeria 6
LB - Libano 6
OM - Oman 6
UY - Uruguay 6
DK - Danimarca 5
JM - Giamaica 5
AE - Emirati Arabi Uniti 4
AU - Australia 4
BO - Bolivia 4
CL - Cile 4
EU - Europa 4
KG - Kirghizistan 4
RS - Serbia 4
AL - Albania 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
KW - Kuwait 3
LV - Lettonia 3
NI - Nicaragua 3
TH - Thailandia 3
AM - Armenia 2
BG - Bulgaria 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BY - Bielorussia 2
CH - Svizzera 2
CY - Cipro 2
EG - Egitto 2
KH - Cambogia 2
MD - Moldavia 2
NO - Norvegia 2
PS - Palestinian Territory 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
CI - Costa d'Avorio 1
GA - Gabon 1
GR - Grecia 1
GT - Guatemala 1
GY - Guiana 1
HN - Honduras 1
HU - Ungheria 1
JP - Giappone 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MK - Macedonia 1
MN - Mongolia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
PH - Filippine 1
Totale 12.146
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Città #
Dublin 1.281
Chandler 819
Nyköping 544
Jacksonville 543
Singapore 516
Beijing 294
Princeton 251
Medford 238
Warsaw 232
Cambridge 197
Dearborn 190
Ashburn 181
Des Moines 175
Ann Arbor 174
Messina 156
The Dalles 150
New York 94
São Paulo 87
Wilmington 86
Boardman 76
Jinan 63
San Mateo 62
Shenyang 59
Los Angeles 57
Hong Kong 56
Nanjing 53
Rio de Janeiro 44
Rome 42
Hyderabad 35
Ningbo 35
Brussels 33
Helsinki 31
Dong Ket 30
Zhengzhou 30
Belo Horizonte 29
Houston 29
Taizhou 29
Hangzhou 28
Woodbridge 28
Bremen 27
Hebei 27
Nuremberg 24
Tashkent 24
Tianjin 24
Brasília 23
Curitiba 21
Guangzhou 19
Falls Church 17
Frankfurt am Main 17
Nanchang 17
Catania 16
Jakarta 16
Pune 16
Campinas 15
Salvador 15
Fuzhou 14
Milan 14
Munich 14
Haikou 13
Lancaster 13
Baghdad 12
Guarulhos 12
Norwalk 12
Santo André 12
Seattle 12
Waanrode 12
Düsseldorf 11
Porto Alegre 11
Ribeirão Preto 11
São José dos Campos 11
Vienna 11
Washington 11
Zagreb 11
Changsha 10
Juiz de Fora 10
Ottawa 10
Taiyuan 10
Amman 9
Baku 9
Clearwater 9
Contagem 9
Fortaleza 9
Montréal 9
Asunción 8
Bologna 8
Goiânia 8
Quito 8
Aracaju 7
Brno 7
Canoas 7
Dhaka 7
Duque de Caxias 7
Florianópolis 7
Guayaquil 7
Hefei 7
Leawood 7
Manaus 7
Modica 7
Monmouth Junction 7
Moscow 7
Totale 7.809
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Nome #
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 118
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 105
Hippo signaling pathway is altered in Duchenne muscular dystrophy 104
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) 99
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 93
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 93
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 90
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 86
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 85
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 84
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 83
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 82
Miopatie metaboliche 81
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 80
Spectrum of movement disorders in mitochondrial diseases 80
Auditory system involvement study in 20 patients with late-onset Pompe disease 79
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 78
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 76
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 76
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 76
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 76
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 75
Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience 75
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 74
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 74
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 73
A cytochemical study of apoptosis in metabolic myopathies 73
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 72
Fatal R631C mutation is also present in the adult form of CPTII deficiency 72
A life threatening case of β-enolase deficiency 71
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 71
Auditory system involvement study in 20 patients with lateonset pompe disease 70
Ruolo patogenetico dei microRNAs nelle calpainopatie 70
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 69
Calpain 3 deficiency in Quail Eater's disease 69
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 69
A study of auditory system in 20 patients with late onset Pompe disease 69
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 68
A benign case of congenital myotonic dystrophy 68
Are there ERT defined guidelines for Pompe disease? 68
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 68
null 67
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 67
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease 67
The Italian Mitochondrial Registry: design and preliminary results 66
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 66
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone 66
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 66
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 65
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 65
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 65
A genetic modifier of symptom onset in Pompe disease 65
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 65
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 65
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 64
Dolori muscolari, deficit di forza e/o disturbi sensitivi 64
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. 63
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 63
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 63
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 62
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 62
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 62
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 62
Metabolic Myopathies 62
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 61
microRNAs as biomarkers in Pompe disease 61
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 61
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 60
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 60
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 60
Evidence of cardiovascular autonomic impairment in mitochondrial disorders 59
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 59
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 59
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 59
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 59
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 59
Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease 59
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis 59
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 59
null 58
Muscle MRI in neutral lipid storage disease (NLSD) 58
Aspetti clinici e diagnostici nelle parapaspastiche familiari ad esordio infantile 57
Apoptosis in metabolic myopathies 57
Amyloid myopathy presenting with rhabdomyolysis. 57
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 57
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial 57
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 56
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 56
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 56
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function 56
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 56
Tubular aggregates: do they help in diagnosing neuromuscular disorders? 55
Red yeast rice ( Monascus Purpureus) as hypercholesterolemic drug: a case report of muscle damage 55
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 55
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. 55
Multi-system neurological disease is common in patients with OPA1 mutations. 54
MRI findings of neutrophilic fasciitis in a patient with acute febrile neutrophilic dermatosis (Sweet's syndrome) 54
Amyloid myopathy presenting with rhabdomyolisis: evidence of complement activation. 54
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 54
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 53
Totale 6.788
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Categoria #
all - tutte 58.989
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 58.989
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020259 0 0 0 0 0 0 0 0 0 0 207 52
2020/20211.412 89 32 312 51 233 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
2024/20253.376 96 30 89 242 203 200 92 916 1.206 267 35 0
Totale 12.709