IRIS
TOSCANO, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 7.787
EU - Europa 6.633
AS - Asia 1.820
SA - Sud America 12
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 5
AF - Africa 3
Totale 16.267
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Nazione #
US - Stati Uniti d'America 7.754
IE - Irlanda 2.360
SE - Svezia 1.525
CN - Cina 1.341
IT - Italia 717
DE - Germania 510
UA - Ucraina 461
FI - Finlandia 346
PL - Polonia 312
SG - Singapore 260
IN - India 148
GB - Regno Unito 140
BE - Belgio 73
FR - Francia 59
NL - Olanda 44
VN - Vietnam 37
CA - Canada 31
RU - Federazione Russa 31
IR - Iran 22
AT - Austria 12
HR - Croazia 11
CZ - Repubblica Ceca 10
CL - Cile 6
EU - Europa 6
CH - Svizzera 4
DK - Danimarca 4
AU - Australia 3
BG - Bulgaria 3
BR - Brasile 3
EG - Egitto 3
CO - Colombia 2
ES - Italia 2
GR - Grecia 2
HK - Hong Kong 2
ID - Indonesia 2
JP - Giappone 2
LV - Lettonia 2
NZ - Nuova Zelanda 2
RS - Serbia 2
A1 - Anonimo 1
AR - Argentina 1
CR - Costa Rica 1
EE - Estonia 1
IL - Israele 1
IQ - Iraq 1
KR - Corea 1
LT - Lituania 1
MX - Messico 1
NO - Norvegia 1
PH - Filippine 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 16.267
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Città #
Dublin 2.358
Chandler 1.469
Jacksonville 1.095
Nyköping 1.001
Beijing 502
Princeton 436
Medford 403
Ashburn 351
Cambridge 327
Warsaw 311
Des Moines 307
Dearborn 305
Ann Arbor 286
Messina 230
Wilmington 150
New York 147
Boardman 137
Singapore 135
Jinan 113
San Mateo 112
Shenyang 105
Los Angeles 84
Nanjing 78
Hyderabad 67
Ningbo 66
Rome 52
Hebei 51
Bremen 48
Brussels 48
Woodbridge 48
Zhengzhou 48
Hangzhou 45
Falls Church 42
Tianjin 42
Pune 39
Lancaster 38
Dong Ket 36
Taizhou 36
Houston 35
Haikou 33
Seattle 32
Fuzhou 28
Nanchang 28
Helsinki 25
Milan 24
Changsha 23
Waanrode 23
Catania 22
Guangzhou 22
Washington 21
Taiyuan 20
Norwalk 19
Leawood 18
Nürnberg 18
Ardabil 17
Ottawa 16
Mumbai 14
Augusta 13
Vienna 11
Zagreb 11
Auburn Hills 10
Lanzhou 10
Padova 10
Naples 9
Bologna 8
Brno 8
Jiaxing 8
Monmouth Junction 8
Montréal 8
Fairfield 7
Bengaluru 6
Hefei 6
Munich 6
Palo Del Colle 6
Piazza Armerina 6
Santa Clara 6
Wuxi 6
Amsterdam 5
Clearwater 5
Las Vegas 5
Mineo 5
Modica 5
Mountain View 5
Palermo 5
Saint Petersburg 5
Tappahannock 5
Taranto 5
Urbino 5
Baoding 4
Cagliari 4
Chambéry 4
Edinburgh 4
Greifswald 4
Kunming 4
London 4
Napoli 4
St Petersburg 4
Strasbourg 4
Bari 3
Cairo 3
Totale 11.850
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Nome #
Severe rhabdomyolysis in a patient with “Heat Stroke” 192
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area 113
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 109
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 84
Onset of hypothyroidism with polymyositis-like clinical features in elderly patients 81
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) 81
A CMT1A PATIENT WITH PAINFUL AND DISABLING SYMPTOMS: FAST RECOVERY AFTER IVIG TREATMENT. 79
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports 79
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 78
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 77
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 76
Juvenile limb-girdle myasthenia gravis 75
Community-acquired enterococcal meningitis caused by Enterococcus casseliflavus: first case report 73
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy 73
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 72
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis 71
A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy 69
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies 68
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 68
null 67
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 67
Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci 66
TRANSTHYRETIN AMYLOIDOSIS IN SOUTHERN ITALY POPULATION: DESCRIPTION OF A COHORT OF PATIENTS WITH PHE64LEU MUTATION AND LATE ONSET 66
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family 65
Miopatie metaboliche 64
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 64
Bezafibrate-induced myopathy: no evidence for defects in muscle metabolism. 64
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias 63
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 63
A decreased muscle content of HPRG correlates with the reduction of AMP deaminase activity observed in patients affected by myoadenylate deficiencies 62
Autoimmune juvenile limb-girdle myasthenia 62
Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects 62
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 61
Auditory system involvement study in 20 patients with late-onset Pompe disease 61
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 61
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 61
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 60
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 59
A cytochemical study of apoptosis in metabolic myopathies 59
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 59
Spectrum of movement disorders in mitochondrial diseases 59
Apoptosis and apoptosis-related proteins in thyroid myopathies 58
null 58
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 58
211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands 58
Upper body venous thrombosis associated with ovarian stimulation: Case report and review of the literature 57
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 57
Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism 57
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 57
Overexpression of autophagic proteins in the skeletal muscle of sporadic inclusion body myositis. 56
CLINICAL VARIABILITY IN BECKER MUSCULAR-DYSTROPHY - GENETIC, BIOCHEMICAL AND IMMUNOHISTOCHEMICAL CORRELATES 56
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 56
Are there ERT defined guidelines for Pompe disease? 56
Ruolo patogenetico dei microRNAs nelle calpainopatie 56
Predictors of adaptation to non-invasive ventilation in neuromuscular disorders. 56
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci 56
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? 55
Hypokalemic myopathy in pseudohyperaldosteronism induced by fluoroprednisolone-containing nasal spray. 54
A study of auditory system in 20 patients with late onset Pompe disease 54
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 54
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 54
Analysis of lipid profile in lipid storage myopathy 54
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 54
A genetic modifier of symptom onset in Pompe disease 54
null 54
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 53
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 53
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 53
Calpain 3 deficiency in Quail Eater's disease 53
Severe rhabdomyolysis in a patient with “Heat Stroke” 53
The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage 53
ANT1 is reduced in sporadic inclusion body myositis. 53
Which are the factors influencing NIV adaptation and tolerance in ALS patients? 53
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 53
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 53
Atypical posterior reversible encephalopathy syndrome with hemispheric brainstem and spinal cord involvement in a patient with acute kidney injury – a case report. 53
Enterococcal meningitis caused by Enterococcus casseliflavus. First case report. 52
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 52
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 52
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 52
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 52
The Italian Mitochondrial Registry: design and preliminary results 52
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 52
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 52
Chronic migraine in the first COVID‐19 lockdown: the impact of sleep, remote working, and other life/psychological changes 52
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 52
Aspetti clinici e diagnostici nelle parapaspastiche familiari ad esordio infantile 51
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 51
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 51
Axial myopathy in myasthenia: a misleading cause of dropped head 51
MUSCLE MITOCHONDRIA INVESTIGATION IN MYOTONIC-DYSTROPHY 51
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C 51
A life threatening case of β-enolase deficiency 51
A benign case of congenital myotonic dystrophy 51
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene 51
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families 50
Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation 50
A novel Cx32 mutation with unusual phenotype. 50
Red yeast rice ( Monascus Purpureus) as hypercholesterolemic drug: a case report of muscle damage 49
Uremic vagal neuropathy : has parathyroid hormone a pathogenetic role? 49
Totale 6.142
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Categoria #
all - tutte 77.222
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 77.222
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.966 0 116 9 132 13 313 255 204 44 401 380 99
2020/20212.379 186 47 540 87 366 166 143 213 74 314 164 79
2021/20222.571 19 319 27 131 138 40 237 118 58 199 311 974
2022/20236.195 541 511 294 404 408 586 86 341 2.767 24 170 63
2023/20241.762 138 238 138 138 127 359 24 173 12 150 54 211
2024/2025175 139 36 0 0 0 0 0 0 0 0 0 0
Totale 17.068