IRIS
MUSUMECI, Olimpia
 Distribuzione geografica
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Continente #
NA - Nord America 10.186
EU - Europa 9.963
AS - Asia 6.056
SA - Sud America 2.133
Continente sconosciuto - Info sul continente non disponibili 596
AF - Africa 165
OC - Oceania 8
Totale 29.107
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Nazione #
US - Stati Uniti d'America 9.931
RU - Federazione Russa 5.227
SG - Singapore 2.391
BR - Brasile 1.811
CN - Cina 1.773
IE - Irlanda 1.287
SE - Svezia 876
IT - Italia 698
HK - Hong Kong 697
DE - Germania 373
VN - Vietnam 359
FR - Francia 302
PL - Polonia 271
FI - Finlandia 262
UA - Ucraina 233
IN - India 177
GB - Regno Unito 155
BD - Bangladesh 127
AR - Argentina 108
CA - Canada 97
NL - Olanda 70
MX - Messico 68
ID - Indonesia 62
IQ - Iraq 60
EC - Ecuador 55
TR - Turchia 54
ZA - Sudafrica 52
BE - Belgio 45
JP - Giappone 44
CO - Colombia 41
AT - Austria 36
PK - Pakistan 36
UZ - Uzbekistan 34
PY - Paraguay 33
ES - Italia 29
MA - Marocco 29
VE - Venezuela 29
TH - Thailandia 27
CL - Cile 23
TN - Tunisia 19
MY - Malesia 18
CZ - Repubblica Ceca 16
JO - Giordania 16
PH - Filippine 16
AE - Emirati Arabi Uniti 15
IL - Israele 15
KZ - Kazakistan 15
PE - Perù 15
AZ - Azerbaigian 14
CR - Costa Rica 14
JM - Giamaica 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
EG - Egitto 9
GT - Guatemala 9
HN - Honduras 9
PA - Panama 8
AU - Australia 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
SV - El Salvador 4
CH - Svizzera 3
GA - Gabon 3
GR - Grecia 3
HU - Ungheria 3
KH - Cambogia 3
LV - Lettonia 3
MN - Mongolia 3
PR - Porto Rico 3
TW - Taiwan 3
AO - Angola 2
BB - Barbados 2
BH - Bahrain 2
BM - Bermuda 2
BN - Brunei Darussalam 2
BY - Bielorussia 2
Totale 28.474
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Città #
Moscow 1.650
Ashburn 1.474
Dublin 1.286
Singapore 1.286
Dallas 1.026
Chandler 819
Hong Kong 697
San Jose 554
Jacksonville 549
Nyköping 544
Beijing 534
Council Bluffs 394
The Dalles 322
Warsaw 263
Princeton 252
Medford 239
Los Angeles 233
Lauterbourg 210
Cambridge 197
Messina 192
Dearborn 190
Des Moines 176
Ann Arbor 174
New York 168
São Paulo 140
Ho Chi Minh City 118
Buffalo 100
Wilmington 88
Tianjin 85
Santa Clara 83
Munich 78
Boardman 76
Guangzhou 68
Rome 65
Jinan 63
Hanoi 62
San Mateo 62
Orem 61
Rio de Janeiro 60
Shenyang 60
Redondo Beach 59
Nanjing 54
Houston 51
Frankfurt am Main 48
Tokyo 40
Phoenix 39
Nuremberg 37
Atlanta 36
Brooklyn 36
Helsinki 36
Belo Horizonte 35
Chennai 35
Hyderabad 35
Ningbo 35
Brasília 34
Zhengzhou 34
Brussels 33
San Francisco 33
Chicago 32
Curitiba 30
Dong Ket 30
Tashkent 30
Amsterdam 29
Hangzhou 29
Jakarta 29
Milan 29
Shenzhen 29
Taizhou 29
Woodbridge 29
Catania 28
Bremen 27
Denver 27
Hebei 27
Shanghai 27
Turku 27
Baghdad 24
Johannesburg 23
Campinas 22
Columbus 22
Guarulhos 22
London 22
Seattle 22
Mexico City 21
Montreal 21
Stockholm 19
Guayaquil 18
Manchester 18
Nanchang 18
Porto Alegre 18
Quito 18
Dhaka 17
Falls Church 17
Fortaleza 17
Pune 17
Salvador 17
Bangkok 16
Charlotte 16
Haiphong 16
Washington 16
Boston 15
Totale 16.368
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Nome #
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 268
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 215
A cytochemical study of apoptosis in metabolic myopathies 214
A life threatening case of β-enolase deficiency 205
Dolori muscolari, deficit di forza e/o disturbi sensitivi 202
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 198
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 195
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) 194
Hippo signaling pathway is altered in Duchenne muscular dystrophy 193
Auditory system involvement study in 20 patients with late-onset Pompe disease 189
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy 184
A benign case of congenital myotonic dystrophy 182
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 182
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 180
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 180
Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial 178
A genetic modifier of symptom onset in Pompe disease 177
A study of auditory system in 20 patients with late onset Pompe disease 172
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 171
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 170
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 168
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 168
Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience 167
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 166
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 163
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 162
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? 162
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 160
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 160
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 160
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 160
Auditory system involvement study in 20 patients with lateonset pompe disease 159
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 159
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 159
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 158
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 158
Dolori muscolari, deficit di forza e/o disturbi sensitivi 157
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) 156
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 154
Fatal R631C mutation is also present in the adult form of CPTII deficiency 153
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 151
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 150
Miopatie metaboliche 150
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease 149
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 148
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 148
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 147
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 147
Are there ERT defined guidelines for Pompe disease? 146
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 146
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial 146
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 145
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 144
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 144
Calpain 3 deficiency in Quail Eater's disease 142
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 142
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 141
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 139
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 138
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 138
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 138
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 138
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial 137
Paraneoplastic neurological syndromes of the central nervous system: a single institution 7-year case series 137
Expression of the trascription factor NFkB in different muscular dystrophies 136
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 136
Amyloid myopathy presenting with rhabdomyolisis: evidence of complement activation. 135
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 135
Amyloid myopathy presenting with rhabdomyolysis. 134
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 134
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 134
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. 132
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects 131
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 130
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 130
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 129
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 129
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis 129
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 128
Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency. 128
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 127
Statins Neuromuscular Adverse Effects 126
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 125
Central and perypheral nervous system involvement in hereditary coproporphyria. 125
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 124
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 124
Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile) 123
Muscle MRI in neutral lipid storage disease (NLSD) 122
Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study 121
An adult case of glycogen synthase deficiency. A new entry among metabolic myopathies. 121
Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease 121
Methotrexate as a steroid-sparing agent in myasthenia gravis: A preliminary retrospective study 121
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 120
CPEO/parkinsonism associated with OPA1 missense mutations and mtDNA multiple deletions 120
Multi-system neurological disease is common in patients with OPA1 mutations. 118
A mobile app for patients with Pompe disease and its possible clinical applications 118
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 117
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 117
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 116
Congenital myopathies: Clinical phenotypes and new diagnostic tools 116
Totale 15.041
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Categoria #
all - tutte 104.119
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 104.119
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.297 0 0 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
2026/20271.355 427 822 106 0 0 0 0 0 0 0 0 0
Totale 29.107