IRIS
TOSCANO, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 7.010
EU - Europa 6.770
AS - Asia 1.418
SA - Sud America 9
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 4
AF - Africa 1
Totale 15.219
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Nazione #
US - Stati Uniti d'America 6.980
IE - Irlanda 2.706
SE - Svezia 1.512
CN - Cina 1.320
IT - Italia 579
DE - Germania 494
UA - Ucraina 454
FI - Finlandia 329
PL - Polonia 312
GB - Regno Unito 134
BE - Belgio 93
FR - Francia 56
NL - Olanda 42
VN - Vietnam 37
IN - India 31
CA - Canada 28
RU - Federazione Russa 26
IR - Iran 22
HR - Croazia 8
CL - Cile 6
EU - Europa 6
CH - Svizzera 4
DK - Danimarca 4
AT - Austria 3
BG - Bulgaria 3
AU - Australia 2
BR - Brasile 2
ES - Italia 2
GR - Grecia 2
JP - Giappone 2
LV - Lettonia 2
NZ - Nuova Zelanda 2
SG - Singapore 2
A1 - Anonimo 1
AR - Argentina 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
EE - Estonia 1
EG - Egitto 1
ID - Indonesia 1
IQ - Iraq 1
LT - Lituania 1
MX - Messico 1
NO - Norvegia 1
RS - Serbia 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 15.219
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Città #
Dublin 2.705
Chandler 1.461
Jacksonville 1.081
Nyköping 993
Beijing 504
Princeton 435
Medford 402
Cambridge 324
Warsaw 311
Dearborn 305
Des Moines 304
Ann Arbor 286
Messina 219
Wilmington 151
Boardman 127
Jinan 114
San Mateo 111
Shenyang 105
Nanjing 78
Brussels 70
Ningbo 65
Hebei 50
Bremen 48
Woodbridge 48
Zhengzhou 47
Hangzhou 45
Falls Church 42
Tianjin 41
Lancaster 40
Rome 39
Dong Ket 36
Houston 35
Taizhou 34
Haikou 33
Fuzhou 29
Ashburn 27
Nanchang 27
Changsha 24
Guangzhou 23
Waanrode 23
Helsinki 19
Norwalk 19
Leawood 18
Milan 18
Nürnberg 18
Taiyuan 18
Ardabil 17
Ottawa 16
Augusta 13
Catania 13
Mumbai 13
Seattle 12
Auburn Hills 10
Lanzhou 10
Padova 10
Jiaxing 8
Monmouth Junction 8
Montréal 8
Zagreb 8
Fairfield 7
Piazza Armerina 7
Hefei 6
New York 6
Palo Del Colle 6
Clearwater 5
Las Vegas 5
Mineo 5
Modica 5
Mountain View 5
Naples 5
Palermo 5
Saint Petersburg 5
Tappahannock 5
Taranto 5
Urbino 5
Cagliari 4
Chambéry 4
Edinburgh 4
Greifswald 4
Kunming 4
Los Angeles 4
Napoli 4
Strasbourg 4
Amsterdam 3
Bari 3
Bologna 3
Camposampiero 3
East Stroudsburg 3
Hanover 3
London 3
Monopoli 3
Redwood City 3
San Antonio 3
Seelze 3
Sofia 3
Torino 3
Vienna 3
Voghera 3
Catanzaro 2
Chengdu 2
Totale 11.266
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Nome #
Severe rhabdomyolysis in a patient with “Heat Stroke” 184
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 106
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area 106
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 80
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) 80
Onset of hypothyroidism with polymyositis-like clinical features in elderly patients 78
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B. 78
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 76
Community-acquired enterococcal meningitis caused by Enterococcus casseliflavus: first case report 75
Juvenile limb-girdle myasthenia gravis 75
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 75
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports 75
A CMT1A PATIENT WITH PAINFUL AND DISABLING SYMPTOMS: FAST RECOVERY AFTER IVIG TREATMENT. 71
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 71
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy 69
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 69
null 67
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies 66
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 65
TRANSTHYRETIN AMYLOIDOSIS IN SOUTHERN ITALY POPULATION: DESCRIPTION OF A COHORT OF PATIENTS WITH PHE64LEU MUTATION AND LATE ONSET 65
Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci 64
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias 64
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum 64
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 62
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family 62
A decreased muscle content of HPRG correlates with the reduction of AMP deaminase activity observed in patients affected by myoadenylate deficiencies 59
Miopatie metaboliche 59
Autoimmune juvenile limb-girdle myasthenia 59
null 58
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 58
Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects 58
Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism 57
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis 57
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 57
Hypokalemic myopathy in pseudohyperaldosteronism induced by fluoroprednisolone-containing nasal spray. 56
Apoptosis and apoptosis-related proteins in thyroid myopathies 56
Upper body venous thrombosis associated with ovarian stimulation: Case report and review of the literature 56
Ruolo patogenetico dei microRNAs nelle calpainopatie 56
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 56
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 55
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 55
Are there ERT defined guidelines for Pompe disease? 55
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 55
Overexpression of autophagic proteins in the skeletal muscle of sporadic inclusion body myositis. 54
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 54
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? 54
null 54
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 53
CLINICAL VARIABILITY IN BECKER MUSCULAR-DYSTROPHY - GENETIC, BIOCHEMICAL AND IMMUNOHISTOCHEMICAL CORRELATES 53
Bezafibrate-induced myopathy: no evidence for defects in muscle metabolism. 53
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C 53
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 53
Analysis of lipid profile in lipid storage myopathy 53
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 53
Aspetti clinici e diagnostici nelle parapaspastiche familiari ad esordio infantile 52
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 52
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 51
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 51
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 51
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 51
The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage 51
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 51
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 51
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency 50
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 50
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 50
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 50
Auditory system involvement study in 20 patients with late-onset Pompe disease 50
DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY 49
Axial myopathy in myasthenia: a misleading cause of dropped head 49
Enterococcal meningitis caused by Enterococcus casseliflavus. First case report. 49
Red yeast rice ( Monascus Purpureus) as hypercholesterolemic drug: a case report of muscle damage 49
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families 49
Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation 49
MUSCLE MITOCHONDRIA INVESTIGATION IN MYOTONIC-DYSTROPHY 49
Calpain 3 deficiency in Quail Eater's disease 49
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 49
A study of auditory system in 20 patients with late onset Pompe disease 49
The Italian Mitochondrial Registry: design and preliminary results 49
Predictors of adaptation to non-invasive ventilation in neuromuscular disorders. 49
Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association 48
Molecular analysis of LGMD-2B and MM patients: Identification of novel DYSF mutations and possible founder effect in the Italian population 48
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 48
MUSCLE REARRANGEMENT IN PATIENTS WITH HEMIPARESIS AFTER STROKE - AN ELECTROPHYSIOLOGICAL AND MORPHOLOGICAL-STUDY 48
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 48
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 48
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 48
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone 48
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene 48
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 48
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 48
Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study. 47
Uremic vagal neuropathy : has parathyroid hormone a pathogenetic role? 47
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 47
Differential expression of microRNAs in primary and secondary calpainopathies 47
ANT1 is reduced in sporadic inclusion body myositis. 47
CMT subtypes in a cohort of italian patients enrolled at Messina neuromuscular centre since 1994 to 2014. 47
Evaluation of the psychometric properties of the EORTC chemotherapy-induced peripheral neuropathy questionnaire (QLQ-CIPN20) 47
Which are the factors influencing NIV adaptation and tolerance in ALS patients? 47
Novel donor splice site mutations of Amylo-1,6-glucosidase4-glucanotransferase gene in Italian patients with Glycogen Storage Disease type IIIa 46
Totale 5.805
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Categoria #
all - tutte 45.326
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 45.326
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019397 0 0 16 21 188 18 45 57 9 24 8 11
2019/20202.211 250 114 9 130 13 313 253 202 45 406 377 99
2020/20212.380 184 47 538 87 376 164 143 211 74 313 164 79
2021/20222.556 19 315 27 130 139 40 235 118 57 198 306 972
2022/20236.522 538 510 293 400 407 583 85 340 3.101 29 172 64
2023/2024534 148 241 145 0 0 0 0 0 0 0 0 0
Totale 15.957