IRIS
TOSCANO, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 7.906
EU - Europa 6.887
AS - Asia 2.798
SA - Sud America 15
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 7
AF - Africa 5
Totale 17.625
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Nazione #
US - Stati Uniti d'America 7.863
IE - Irlanda 2.368
SE - Svezia 1.531
CN - Cina 1.477
SG - Singapore 1.051
IT - Italia 857
DE - Germania 537
UA - Ucraina 462
FI - Finlandia 374
PL - Polonia 313
IN - India 153
GB - Regno Unito 152
BE - Belgio 76
FR - Francia 62
NL - Olanda 53
CA - Canada 40
VN - Vietnam 37
RU - Federazione Russa 33
ID - Indonesia 27
IR - Iran 22
AT - Austria 17
HR - Croazia 11
CZ - Repubblica Ceca 10
CL - Cile 6
EU - Europa 6
LT - Lituania 6
AU - Australia 5
DK - Danimarca 5
IL - Israele 5
BR - Brasile 4
CH - Svizzera 4
HK - Hong Kong 4
BG - Bulgaria 3
EG - Egitto 3
JP - Giappone 3
SA - Arabia Saudita 3
CO - Colombia 2
ES - Italia 2
GR - Grecia 2
KR - Corea 2
LK - Sri Lanka 2
LV - Lettonia 2
MA - Marocco 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
PK - Pakistan 2
RS - Serbia 2
A1 - Anonimo 1
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AR - Argentina 1
AZ - Azerbaigian 1
BD - Bangladesh 1
CR - Costa Rica 1
EC - Ecuador 1
EE - Estonia 1
HU - Ungheria 1
IQ - Iraq 1
JM - Giamaica 1
KG - Kirghizistan 1
MD - Moldavia 1
MX - Messico 1
PE - Perù 1
PH - Filippine 1
TH - Thailandia 1
TR - Turchia 1
UZ - Uzbekistan 1
Totale 17.625
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Città #
Dublin 2.366
Chandler 1.474
Jacksonville 1.096
Nyköping 1.005
Singapore 843
Beijing 510
Princeton 437
Medford 403
Ashburn 355
Cambridge 327
Warsaw 311
Des Moines 307
Dearborn 305
Ann Arbor 286
Messina 276
Wilmington 151
New York 147
Boardman 137
Jinan 114
San Mateo 113
Shenyang 106
Los Angeles 90
Nanjing 79
Hyderabad 68
Ningbo 68
Rome 61
Zhengzhou 52
Brussels 51
Hebei 51
Bremen 48
Helsinki 48
Woodbridge 48
Hangzhou 45
Falls Church 42
Tianjin 42
Pune 39
Taizhou 39
Lancaster 38
Dong Ket 36
Houston 35
Haikou 33
Seattle 32
Guangzhou 29
Fuzhou 28
Nanchang 28
Milan 27
Jakarta 26
Munich 26
Taiyuan 24
Changsha 23
Waanrode 23
Washington 21
Ottawa 20
Catania 19
Norwalk 19
Leawood 18
Nürnberg 18
Ardabil 17
Mumbai 14
Vienna 14
Augusta 13
Padova 13
Amsterdam 12
Santa Clara 12
Zagreb 11
Auburn Hills 10
Lanzhou 10
London 9
Naples 9
Bengaluru 8
Bologna 8
Brno 8
Jiaxing 8
Monmouth Junction 8
Montréal 8
Fairfield 7
Hefei 7
Wuxi 7
Palo Del Colle 6
Piazza Armerina 6
Shanghai 6
Bagheria 5
Clearwater 5
Kunming 5
Las Vegas 5
Mineo 5
Modica 5
Mountain View 5
Palermo 5
Saint Petersburg 5
Tappahannock 5
Taranto 5
Tel Aviv 5
Toronto 5
Urbino 5
Baoding 4
Cagliari 4
Chambéry 4
Dallas 4
Edinburgh 4
Totale 12.784
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Nome #
Severe rhabdomyolysis in a patient with “Heat Stroke” 194
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area 118
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) 89
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports 88
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
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 84
Onset of hypothyroidism with polymyositis-like clinical features in elderly patients 83
A CMT1A PATIENT WITH PAINFUL AND DISABLING SYMPTOMS: FAST RECOVERY AFTER IVIG TREATMENT. 82
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 82
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis 82
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies 79
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy 79
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 79
Community-acquired enterococcal meningitis caused by Enterococcus casseliflavus: first case report 77
Juvenile limb-girdle myasthenia gravis 77
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 77
A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy 74
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 73
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 72
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias 71
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 70
Miopatie metaboliche 69
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family 69
Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci 68
TRANSTHYRETIN AMYLOIDOSIS IN SOUTHERN ITALY POPULATION: DESCRIPTION OF A COHORT OF PATIENTS WITH PHE64LEU MUTATION AND LATE ONSET 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
Atypical posterior reversible encephalopathy syndrome with hemispheric brainstem and spinal cord involvement in a patient with acute kidney injury – a case report. 68
null 67
Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects 67
Spectrum of movement disorders in mitochondrial diseases 67
A decreased muscle content of HPRG correlates with the reduction of AMP deaminase activity observed in patients affected by myoadenylate deficiencies 66
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 66
Bezafibrate-induced myopathy: no evidence for defects in muscle metabolism. 66
Autoimmune juvenile limb-girdle myasthenia 66
Auditory system involvement study in 20 patients with late-onset Pompe disease 65
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 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
Pimozide and pancreatic cancer in diabetic chorea: a case report 64
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 64
Apoptosis and apoptosis-related proteins in thyroid myopathies 63
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 63
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 62
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 62
A cytochemical study of apoptosis in metabolic myopathies 62
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 61
Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism 61
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 61
Overexpression of autophagic proteins in the skeletal muscle of sporadic inclusion body myositis. 60
Upper body venous thrombosis associated with ovarian stimulation: Case report and review of the literature 60
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 60
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 60
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 60
Chronic migraine in the first COVID‐19 lockdown: the impact of sleep, remote working, and other life/psychological changes 60
Contactin 1, a Potential New Antigen Target in Membranous Nephropathy: A Case Report 60
Are there ERT defined guidelines for Pompe disease? 59
Ruolo patogenetico dei microRNAs nelle calpainopatie 59
CLINICAL VARIABILITY IN BECKER MUSCULAR-DYSTROPHY - GENETIC, BIOCHEMICAL AND IMMUNOHISTOCHEMICAL CORRELATES 58
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 58
null 58
Predictors of adaptation to non-invasive ventilation in neuromuscular disorders. 58
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? 58
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 58
Hypokalemic myopathy in pseudohyperaldosteronism induced by fluoroprednisolone-containing nasal spray. 57
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 57
MUSCLE MITOCHONDRIA INVESTIGATION IN MYOTONIC-DYSTROPHY 57
A study of auditory system in 20 patients with late onset Pompe disease 57
Which are the factors influencing NIV adaptation and tolerance in ALS patients? 57
A genetic modifier of symptom onset in Pompe disease 57
Variants of the circle of Willis in ischemic stroke patients 57
Ischemic stroke and reperfusion therapies in diabetic patients 57
Calpain 3 deficiency in Quail Eater's disease 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
Analysis of lipid profile in lipid storage myopathy 56
The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage 56
Dolori muscolari, deficit di forza e/o disturbi sensitivi 56
ANT1 is reduced in sporadic inclusion body myositis. 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
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 55
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 55
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 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
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 54
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families 54
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 54
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 54
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C 54
A life threatening case of β-enolase deficiency 54
Severe rhabdomyolysis in a patient with “Heat Stroke” 54
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene 54
null 54
Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association 53
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
Totale 6.560
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Categoria #
all - tutte 90.621
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 90.621
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.700 0 0 0 0 0 313 255 205 44 404 380 99
2020/20212.380 186 47 540 87 367 166 143 213 74 314 164 79
2021/20222.578 19 320 27 133 139 40 238 119 58 199 311 975
2022/20236.215 542 514 295 405 409 587 86 342 2.778 24 170 63
2023/20241.759 138 240 138 138 127 360 24 173 12 151 47 211
2024/20251.542 137 74 133 522 390 286 0 0 0 0 0 0
Totale 18.464