IRIS
MUSUMECI, Olimpia
 Distribuzione geografica
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Continente #
NA - Nord America 4.429
EU - Europa 3.665
AS - Asia 1.485
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 4
AF - Africa 2
Totale 9.597
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Nazione #
US - Stati Uniti d'America 4.406
IE - Irlanda 1.286
SE - Svezia 857
CN - Cina 801
SG - Singapore 541
IT - Italia 431
PL - Polonia 233
FI - Finlandia 225
UA - Ucraina 213
DE - Germania 198
IN - India 65
GB - Regno Unito 56
BE - Belgio 45
NL - Olanda 34
FR - Francia 30
VN - Vietnam 30
CA - Canada 22
ID - Indonesia 17
RU - Federazione Russa 17
HR - Croazia 11
IR - Iran 11
CZ - Repubblica Ceca 9
AT - Austria 6
DK - Danimarca 5
IL - Israele 5
AU - Australia 4
EU - Europa 4
HK - Hong Kong 4
BR - Brasile 2
CH - Svizzera 2
CL - Cile 2
CO - Colombia 2
LV - Lettonia 2
MA - Marocco 2
MD - Moldavia 2
NO - Norvegia 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
BD - Bangladesh 1
BG - Bulgaria 1
EC - Ecuador 1
IQ - Iraq 1
JP - Giappone 1
KG - Kirghizistan 1
KR - Corea 1
MX - Messico 1
PK - Pakistan 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 9.597
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Città #
Dublin 1.285
Chandler 821
Nyköping 546
Jacksonville 543
Singapore 429
Beijing 292
Princeton 251
Medford 238
Warsaw 232
Cambridge 197
Dearborn 190
Ashburn 184
Des Moines 175
Ann Arbor 174
Messina 129
New York 93
Wilmington 86
Boardman 75
Jinan 63
San Mateo 62
Shenyang 59
Nanjing 53
Los Angeles 44
Rome 40
Hyderabad 35
Ningbo 35
Brussels 33
Dong Ket 30
Helsinki 30
Taizhou 29
Hangzhou 28
Houston 28
Woodbridge 28
Zhengzhou 28
Bremen 27
Hebei 27
Tianjin 24
Falls Church 17
Guangzhou 17
Nanchang 17
Pune 17
Catania 16
Jakarta 16
Fuzhou 14
Haikou 13
Lancaster 13
Milan 13
Norwalk 12
Seattle 12
Waanrode 12
Munich 11
Washington 11
Zagreb 11
Changsha 10
Clearwater 9
Montréal 9
Ottawa 9
Taiyuan 9
Bologna 8
Brno 7
Leawood 7
Modica 7
Monmouth Junction 7
Ardabil 6
Augusta 6
Hefei 6
Padova 6
Amsterdam 5
Lanzhou 5
Naples 5
Santa Clara 5
Tel Aviv 5
Urbino 5
Vienna 5
Baoding 4
Cagliari 4
Chambéry 4
Hong Kong 4
Indianapolis 4
Jiaxing 4
London 4
Mountain View 4
St Petersburg 4
Strasbourg 4
Taranto 4
Yantai 4
Bari 3
Camposampiero 3
Chicago 3
Espoo 3
Frankfurt am Main 3
Ipswich 3
Kunming 3
Lappeenranta 3
Las Vegas 3
Monopoli 3
Mumbai 3
Palermo 3
Piazza Armerina 3
Voghera 3
Totale 7.096
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Nome #
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 113
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 87
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) 87
Hippo signaling pathway is altered in Duchenne muscular dystrophy 86
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 82
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 81
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 79
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 76
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 72
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 70
Miopatie metaboliche 68
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 68
null 67
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 67
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 66
Auditory system involvement study in 20 patients with late-onset Pompe disease 65
Spectrum of movement disorders in mitochondrial diseases 65
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 64
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 64
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 63
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 63
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 62
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 62
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 61
A cytochemical study of apoptosis in metabolic myopathies 61
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 60
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 60
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 60
Are there ERT defined guidelines for Pompe disease? 59
Ruolo patogenetico dei microRNAs nelle calpainopatie 59
null 58
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 57
A study of auditory system in 20 patients with late onset Pompe disease 57
Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience 57
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 56
The Italian Mitochondrial Registry: design and preliminary results 56
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 56
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 56
Dolori muscolari, deficit di forza e/o disturbi sensitivi 56
A genetic modifier of symptom onset in Pompe disease 56
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 56
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 55
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 55
Fatal R631C mutation is also present in the adult form of CPTII deficiency 55
Calpain 3 deficiency in Quail Eater's disease 55
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 55
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 55
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 55
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 55
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 54
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 54
Aspetti clinici e diagnostici nelle parapaspastiche familiari ad esordio infantile 53
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 53
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 53
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 53
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 53
A life threatening case of β-enolase deficiency 53
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 53
A benign case of congenital myotonic dystrophy 52
Red yeast rice ( Monascus Purpureus) as hypercholesterolemic drug: a case report of muscle damage 51
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 51
Muscle MRI in neutral lipid storage disease (NLSD) 51
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 51
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 50
Auditory system involvement study in 20 patients with lateonset pompe disease 50
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 50
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone 50
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 50
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 49
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 49
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 49
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. 48
Tubular aggregates: do they help in diagnosing neuromuscular disorders? 48
Hypokalemic myopathy secondary to aldosteronoma 48
Evidence of cardiovascular autonomic impairment in mitochondrial disorders 48
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 48
Differential expression of microRNAs in primary and secondary calpainopathies 48
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 48
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis 48
microRNAs as biomarkers in Pompe disease 48
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 48
Apoptosis in metabolic myopathies 47
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 47
Metabolic Myopathies 47
Physical and mental perception of quality of life in patients with myotonic dystrophies: correlation between objective and functional measures of muscle disability, cognitive, behavioral and educational aspects 46
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 46
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 46
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function 46
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 46
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease 46
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 46
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency. Neurology 45
Molecular and clinic characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP) 45
Amyloid myopathy presenting with rhabdomyolysis. 45
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 45
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 45
Clinical and genetic study in a patient with muscle phosphofructokinase deficiency. 44
Multi-system neurological disease is common in patients with OPA1 mutations. 44
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 44
Central and perypheral nervous system involvement in hereditary coproporphyria. 44
Totale 5.634
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Categoria #
all - tutte 48.704
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 48.704
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020915 0 0 0 0 0 197 118 81 23 237 207 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
2022/20233.398 301 263 174 214 248 329 47 197 1.495 15 85 30
2023/2024958 80 139 98 66 66 195 7 79 6 79 20 123
2024/2025745 97 30 89 243 204 82 0 0 0 0 0 0
Totale 10.099