IRIS
MUSUMECI, Olimpia
 Distribuzione geografica
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Continente #
EU - Europa 9.877
NA - Nord America 8.671
AS - Asia 5.892
SA - Sud America 2.104
AF - Africa 164
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 5
Totale 26.721
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Nazione #
US - Stati Uniti d'America 8.481
RU - Federazione Russa 5.226
SG - Singapore 2.379
BR - Brasile 1.794
CN - Cina 1.718
IE - Irlanda 1.286
SE - Svezia 875
HK - Hong Kong 690
IT - Italia 631
DE - Germania 373
VN - Vietnam 352
FR - Francia 301
PL - Polonia 269
FI - Finlandia 262
UA - Ucraina 232
IN - India 168
GB - Regno Unito 153
AR - Argentina 107
BD - Bangladesh 83
CA - Canada 77
NL - Olanda 68
MX - Messico 61
ID - Indonesia 60
IQ - Iraq 60
TR - Turchia 52
EC - Ecuador 51
ZA - Sudafrica 51
BE - Belgio 45
JP - Giappone 40
CO - Colombia 37
AT - Austria 36
UZ - Uzbekistan 34
PK - Pakistan 33
PY - Paraguay 33
MA - Marocco 29
VE - Venezuela 29
ES - Italia 28
TH - Thailandia 23
CL - Cile 21
TN - Tunisia 19
CZ - Repubblica Ceca 15
IL - Israele 15
JO - Giordania 15
PE - Perù 15
PH - Filippine 15
AZ - Azerbaigian 14
KZ - Kazakistan 14
IR - Iran 13
LB - Libano 13
OM - Oman 13
AE - Emirati Arabi Uniti 12
CI - Costa d'Avorio 12
HR - Croazia 12
KE - Kenya 12
NP - Nepal 12
SA - Arabia Saudita 12
DZ - Algeria 11
MY - Malesia 11
UY - Uruguay 11
DO - Repubblica Dominicana 10
LT - Lituania 10
EG - Egitto 9
JM - Giamaica 8
PA - Panama 8
AU - Australia 7
CR - Costa Rica 7
GT - Guatemala 6
KG - Kirghizistan 6
RS - Serbia 6
BA - Bosnia-Erzegovina 5
BO - Bolivia 5
DK - Danimarca 5
KW - Kuwait 5
NI - Nicaragua 5
AL - Albania 4
AM - Armenia 4
BG - Bulgaria 4
ET - Etiopia 4
EU - Europa 4
HN - Honduras 4
PS - Palestinian Territory 4
RO - Romania 4
SN - Senegal 4
CH - Svizzera 3
GA - Gabon 3
GR - Grecia 3
HU - Ungheria 3
KH - Cambogia 3
LV - Lettonia 3
PT - Portogallo 3
TW - Taiwan 3
AO - Angola 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BY - Bielorussia 2
CY - Cipro 2
MD - Moldavia 2
ML - Mali 2
MN - Mongolia 2
NG - Nigeria 2
Totale 26.694
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Città #
Moscow 1.650
Ashburn 1.312
Dublin 1.285
Singapore 1.279
Dallas 1.018
Chandler 819
Hong Kong 690
Jacksonville 546
Nyköping 544
Beijing 527
San Jose 429
The Dalles 321
Warsaw 263
Princeton 251
Medford 238
Los Angeles 219
Lauterbourg 210
Cambridge 197
Messina 192
Dearborn 190
Des Moines 175
Ann Arbor 174
New York 157
São Paulo 137
Ho Chi Minh City 116
Buffalo 98
Wilmington 86
Tianjin 85
Munich 78
Boardman 76
Guangzhou 68
Jinan 63
San Mateo 62
Hanoi 60
Shenyang 60
Redondo Beach 59
Rio de Janeiro 59
Orem 57
Nanjing 54
Rome 53
Frankfurt am Main 48
Santa Clara 46
Houston 45
Council Bluffs 44
Nuremberg 37
Tokyo 37
Helsinki 36
Belo Horizonte 35
Hyderabad 35
Ningbo 35
Zhengzhou 34
Brussels 33
Chennai 33
Brasília 32
Curitiba 30
Dong Ket 30
Tashkent 30
Hangzhou 29
Jakarta 29
San Francisco 29
Taizhou 29
Amsterdam 28
Brooklyn 28
Woodbridge 28
Bremen 27
Hebei 27
Shenzhen 27
Turku 27
Catania 26
Denver 25
Shanghai 25
Baghdad 24
Chicago 24
Milan 23
Atlanta 22
Campinas 22
Guarulhos 22
Johannesburg 22
London 21
Seattle 20
Mexico City 19
Stockholm 19
Nanchang 18
Porto Alegre 18
Falls Church 17
Fortaleza 17
Pune 17
Quito 17
Salvador 17
Bangkok 16
Haiphong 16
Manchester 16
Montreal 16
Phoenix 16
Dhaka 15
Guayaquil 15
Manaus 15
São José dos Campos 15
Vienna 15
Amman 14
Totale 15.489
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Nome #
A cytochemical study of apoptosis in metabolic myopathies 210
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 206
A life threatening case of β-enolase deficiency 203
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 190
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 189
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) 189
Auditory system involvement study in 20 patients with late-onset Pompe disease 187
Hippo signaling pathway is altered in Duchenne muscular dystrophy 186
A benign case of congenital myotonic dystrophy 180
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 177
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 177
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 175
A genetic modifier of symptom onset in Pompe disease 174
A study of auditory system in 20 patients with late onset Pompe disease 168
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy 166
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 166
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 164
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 164
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 163
Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience 162
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 159
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 158
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 157
Auditory system involvement study in 20 patients with lateonset pompe disease 156
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 156
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 156
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 155
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 154
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 154
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 153
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
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 152
Fatal R631C mutation is also present in the adult form of CPTII deficiency 151
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 151
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? 151
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 150
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 149
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 148
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) 146
Miopatie metaboliche 146
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease 144
Are there ERT defined guidelines for Pompe disease? 143
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 142
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 142
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial 140
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 139
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 139
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 139
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 139
Calpain 3 deficiency in Quail Eater's disease 138
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 137
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 137
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 137
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 137
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 136
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 135
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 134
Amyloid myopathy presenting with rhabdomyolisis: evidence of complement activation. 133
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 133
Amyloid myopathy presenting with rhabdomyolysis. 132
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. 131
Paraneoplastic neurological syndromes of the central nervous system: a single institution 7-year case series 131
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 130
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial 130
Expression of the trascription factor NFkB in different muscular dystrophies 129
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 129
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 129
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 129
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 128
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 127
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 126
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 125
Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency. 123
Dolori muscolari, deficit di forza e/o disturbi sensitivi 123
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects 122
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 122
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 122
Central and perypheral nervous system involvement in hereditary coproporphyria. 121
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 121
Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile) 120
An adult case of glycogen synthase deficiency. A new entry among metabolic myopathies. 119
Muscle MRI in neutral lipid storage disease (NLSD) 119
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 118
Methotrexate as a steroid-sparing agent in myasthenia gravis: A preliminary retrospective study 118
CPEO/parkinsonism associated with OPA1 missense mutations and mtDNA multiple deletions 117
Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease 117
A mobile app for patients with Pompe disease and its possible clinical applications 117
Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study 116
Statins Neuromuscular Adverse Effects 116
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis 115
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 114
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 114
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 114
Multi-system neurological disease is common in patients with OPA1 mutations. 113
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 113
Ruolo patogenetico dei microRNAs nelle calpainopatie 112
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. 111
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 110
microRNAs as biomarkers in Pompe disease 110
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 110
Totale 14.218
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Categoria #
all - tutte 93.172
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 93.172
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021135 0 0 0 0 0 0 0 0 0 0 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
2025/202613.492 613 923 1.145 1.057 1.055 2.836 1.743 1.639 1.681 623 177 0
Totale 27.307