TOSCANO, Antonio
 Distribuzione geografica
Continente #
EU - Europa 697
NA - Nord America 148
AS - Asia 77
SA - Sud America 10
AF - Africa 9
OC - Oceania 2
Totale 943
Nazione #
IT - Italia 517
US - Stati Uniti d'America 140
IE - Irlanda 74
VN - Vietnam 39
PL - Polonia 34
DE - Germania 24
GB - Regno Unito 11
IN - India 11
JP - Giappone 9
TR - Turchia 8
ZA - Sudafrica 7
HU - Ungheria 6
SE - Svezia 6
CZ - Repubblica Ceca 5
FR - Francia 5
MX - Messico 5
CL - Cile 4
CN - Cina 4
CO - Colombia 4
HR - Croazia 4
CA - Canada 3
PH - Filippine 3
AU - Australia 2
BE - Belgio 2
BR - Brasile 2
CH - Svizzera 2
RO - Romania 2
RU - Federazione Russa 2
EG - Egitto 1
ES - Italia 1
GH - Ghana 1
ID - Indonesia 1
NL - Olanda 1
NP - Nepal 1
OM - Oman 1
PT - Portogallo 1
Totale 943
Città #
Messina 340
Dublin 74
Dong Ket 36
Warsaw 34
Rome 20
Catania 18
Boardman 11
Piazza Armerina 10
Padova 8
Johannesburg 7
Cisano Bergamasco 6
Houston 6
Milan 6
Nürnberg 6
Budapest 5
Fairfield 5
Leawood 5
San Severo 5
Chicago 4
Chino Valley 4
Fleming Island 4
Modica 4
Mountain View 4
Pittsburgh 4
Tokyo 4
Trapani 4
Waltham 4
Basking Ridge 3
Bogotá 3
Hanoi 3
Monterrey 3
Nashville 3
Reggio Calabria 3
Santa Venerina 3
Santiago 3
Scranton 3
Stockholm 3
Zhengzhou 3
Ankara 2
Berlin 2
Bitonto 2
Bursa 2
Cesena 2
Dallas 2
Dunfermline 2
Genoa 2
Henrico 2
Huddinge 2
Magnesia ad Sipylum 2
Mexico City 2
Milpitas 2
Mumbai 2
San Diego 2
Sanayi 2
Solihull 2
Sydney 2
The Villages 2
Titusville 2
Widnes 2
Accra 1
Ashburn 1
Baton Rouge 1
Boves 1
Brescia 1
Brookline 1
Brooklyn 1
Calgary 1
Caltagirone 1
Caltanissetta 1
Candiolo 1
Capannori 1
Carterton 1
Castelfranco Veneto 1
Cerro Navia 1
Council Bluffs 1
Darlington 1
Daxini Society 1
Dayton 1
Delhi 1
Duncan 1
Easton 1
Empoli 1
Ferrara di Monte Baldo 1
Florence 1
Foggia 1
Genk 1
Genova 1
Grumo Nevano 1
Gurgaon 1
Hilo 1
Iikura 1
Juiz de Fora 1
Koronadal 1
Lahug 1
Lamezia Terme 1
Linköping 1
Livorno 1
Los Angeles 1
Lucera 1
Madrid 1
Totale 754
Nome #
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls, file de3e52b0-641a-762d-e053-3705fe0a30e0 135
Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects, file de3e52b3-bb8e-762d-e053-3705fe0a30e0 64
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area, file de3e52b0-639c-762d-e053-3705fe0a30e0 44
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients, file de3e52b1-f03b-762d-e053-3705fe0a30e0 42
Syndromic parkinsonism and dementia associated with OPA1 missense mutations, file de3e52b0-54e1-762d-e053-3705fe0a30e0 32
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study, file de3e52b2-b122-762d-e053-3705fe0a30e0 26
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence, file de3e52b1-f192-762d-e053-3705fe0a30e0 18
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), file de3e52b1-a880-762d-e053-3705fe0a30e0 17
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge, file de3e52b1-f194-762d-e053-3705fe0a30e0 17
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients, file de3e52b2-b826-762d-e053-3705fe0a30e0 17
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry, file de3e52b3-d7bf-762d-e053-3705fe0a30e0 17
A genetic modifier of symptom onset in Pompe disease, file de3e52b4-0087-762d-e053-3705fe0a30e0 17
Muscle MRI in neutral lipid storage disease (NLSD), file de3e52b4-051e-762d-e053-3705fe0a30e0 17
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports, file de3e52b2-ed36-762d-e053-3705fe0a30e0 16
Diagnostic tools in late onset Pompe disease (LOPD), file de3e52b2-23c1-762d-e053-3705fe0a30e0 15
Evaluation of the psychometric properties of the EORTC chemotherapy-induced peripheral neuropathy questionnaire (QLQ-CIPN20), file de3e52b3-5ea7-762d-e053-3705fe0a30e0 14
Copy number variants account for a tiny fraction of undiagnosed myopathic patients, file de3e52b1-cafa-762d-e053-3705fe0a30e0 13
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients, file de3e52b0-4dc3-762d-e053-3705fe0a30e0 12
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study, file de3e52b0-64f4-762d-e053-3705fe0a30e0 12
The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage, file de3e52b1-a8c9-762d-e053-3705fe0a30e0 12
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment, file de3e52b0-51fa-762d-e053-3705fe0a30e0 11
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment, file de3e52b0-c638-762d-e053-3705fe0a30e0 11
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy, file de3e52b2-2a1c-762d-e053-3705fe0a30e0 11
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response?, file de3e52b0-5e9f-762d-e053-3705fe0a30e0 9
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD), file de3e52b1-a88b-762d-e053-3705fe0a30e0 9
Rasch-Transformed Total Neuropathy Score clinical version (RT-TNSc©) in patients with chemotherapy-induced peripheral neuropathy, file de3e52b2-8dd8-762d-e053-3705fe0a30e0 9
Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features, file de3e52b3-8b3c-762d-e053-3705fe0a30e0 9
Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association, file de3e52ae-a5c8-762d-e053-3705fe0a30e0 8
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population, file de3e52af-f46e-762d-e053-3705fe0a30e0 8
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone, file de3e52b1-f03d-762d-e053-3705fe0a30e0 8
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study, file de3e52b3-da80-762d-e053-3705fe0a30e0 8
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family, file de3e52af-778d-762d-e053-3705fe0a30e0 7
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature, file de3e52b0-5bd5-762d-e053-3705fe0a30e0 7
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-a933-762d-e053-3705fe0a30e0 7
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center, file de3e52b2-ef82-762d-e053-3705fe0a30e0 7
Evaluation of the psychometric properties of the EORTC chemotherapy-induced peripheral neuropathy questionnaire (QLQ-CIPN20), file de3e52b3-a737-762d-e053-3705fe0a30e0 7
Spectrum of movement disorders in mitochondrial diseases, file de3e52b3-bde7-762d-e053-3705fe0a30e0 7
ANT1 is reduced in sporadic inclusion body myositis., file de3e52af-be7b-762d-e053-3705fe0a30e0 6
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment, file de3e52b0-5e1b-762d-e053-3705fe0a30e0 6
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review, file de3e52b0-5fff-762d-e053-3705fe0a30e0 6
Revisiting mitochondrial ocular myopathies: a study from the Italian Network, file de3e52b1-41e3-762d-e053-3705fe0a30e0 6
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects, file de3e52b2-190d-762d-e053-3705fe0a30e0 6
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease, file de3e52b3-601a-762d-e053-3705fe0a30e0 6
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis, file de3e52b4-2bec-762d-e053-3705fe0a30e0 6
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD), file de3e52af-f390-762d-e053-3705fe0a30e0 5
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum, file de3e52b0-5555-762d-e053-3705fe0a30e0 5
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis, file de3e52b1-bf98-762d-e053-3705fe0a30e0 5
Contactin 1, a Potential New Antigen Target in Membranous Nephropathy: A Case Report, file de3e52b5-605f-762d-e053-3705fe0a30e0 5
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies, file de3e52ae-b142-762d-e053-3705fe0a30e0 4
Specific matrix metalloproteinase expression in focal myositis: an immunopathological study, file de3e52ae-b70b-762d-e053-3705fe0a30e0 4
null, file de3e52b0-56be-762d-e053-3705fe0a30e0 4
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-9c58-762d-e053-3705fe0a30e0 4
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-bd00-762d-e053-3705fe0a30e0 4
microRNAs as biomarkers in Pompe disease, file de3e52b3-547e-762d-e053-3705fe0a30e0 4
MuSK-Associated Myasthenia Gravis: Clinical Features and Management, file de3e52b3-6b19-762d-e053-3705fe0a30e0 4
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment, file de3e52b4-8ee1-762d-e053-3705fe0a30e0 4
Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area, file de3e52b4-f7e0-762d-e053-3705fe0a30e0 4
Ischemic stroke and reperfusion therapies in diabetic patients, file 6f8936bc-5430-496b-b58a-42ac191beea2 3
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients., file de3e52ae-acd6-762d-e053-3705fe0a30e0 3
The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings, file de3e52ae-e5fd-762d-e053-3705fe0a30e0 3
null, file de3e52b2-ef86-762d-e053-3705fe0a30e0 3
A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy, file de3e52b3-980e-762d-e053-3705fe0a30e0 3
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants, file de3e52b3-d516-762d-e053-3705fe0a30e0 3
Atypical CIDP: Diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database, file de3e52b4-286c-762d-e053-3705fe0a30e0 3
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis, file de3e52b4-b304-762d-e053-3705fe0a30e0 3
Ischemic stroke and reperfusion therapies in diabetic patients, file 3b9f00a5-b817-4102-b2a9-4ed911c7a69e 2
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy, file 754aec5f-262f-4494-9e70-9a82bff7c4ac 2
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects, file 9d694645-b1bc-41cf-a15b-5fe6a0cdf0c4 2
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL., file de3e52ae-ba8a-762d-e053-3705fe0a30e0 2
Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases, file de3e52ae-cb4b-762d-e053-3705fe0a30e0 2
Phenotypic clustering of lamin A/C mutations in neuromuscular patients., file de3e52ae-d09a-762d-e053-3705fe0a30e0 2
null, file de3e52ae-df34-762d-e053-3705fe0a30e0 2
Therapeutic approaches in the late onset form of GSD II, file de3e52ae-e87f-762d-e053-3705fe0a30e0 2
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency, file de3e52ae-eace-762d-e053-3705fe0a30e0 2
null, file de3e52ae-eb85-762d-e053-3705fe0a30e0 2
Analysis of lipid profile in lipid storage myopathy, file de3e52b0-18bb-762d-e053-3705fe0a30e0 2
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, file de3e52b0-54f3-762d-e053-3705fe0a30e0 2
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease, file de3e52b0-5641-762d-e053-3705fe0a30e0 2
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations, file de3e52b0-57ac-762d-e053-3705fe0a30e0 2
Juvenile limb-girdle myasthenia gravis, file de3e52b0-5fb1-762d-e053-3705fe0a30e0 2
Measuring quality of life impairment in skeletal muscle channelopathies, file de3e52b0-64f5-762d-e053-3705fe0a30e0 2
Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism, file de3e52b0-6548-762d-e053-3705fe0a30e0 2
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B., file de3e52b0-69af-762d-e053-3705fe0a30e0 2
Facial onset sensory motor neuronopathy: not always a slowly progressive disorder., file de3e52b0-dfd6-762d-e053-3705fe0a30e0 2
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy., file de3e52b0-e460-762d-e053-3705fe0a30e0 2
Muscle MRI in neutral lipid storage disease (NLSD), file de3e52b1-463f-762d-e053-3705fe0a30e0 2
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients, file de3e52b1-4b7f-762d-e053-3705fe0a30e0 2
Congenital myopathies: Clinical phenotypes and new diagnostic tools, file de3e52b1-4eae-762d-e053-3705fe0a30e0 2
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group, file de3e52b1-ec31-762d-e053-3705fe0a30e0 2
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file de3e52b2-28dd-762d-e053-3705fe0a30e0 2
null, file de3e52b2-8f71-762d-e053-3705fe0a30e0 2
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-9c56-762d-e053-3705fe0a30e0 2
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis, file de3e52b3-129c-762d-e053-3705fe0a30e0 2
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene, file de3e52b3-ad15-762d-e053-3705fe0a30e0 2
Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance, file de3e52b3-bdd6-762d-e053-3705fe0a30e0 2
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy, file de3e52b3-ca42-762d-e053-3705fe0a30e0 2
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy, file de3e52b4-1125-762d-e053-3705fe0a30e0 2
Variants of the circle of Willis in ischemic stroke patients, file de3e52b4-fe44-762d-e053-3705fe0a30e0 2
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII), file de3e52b5-0012-762d-e053-3705fe0a30e0 2
Totale 893
Categoria #
all - tutte 1.837
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 1.837

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20196 0 0 0 0 0 0 3 2 0 1 0 0
2019/2020168 0 0 1 0 0 0 0 0 23 43 47 54
2020/2021286 24 4 10 17 15 4 35 25 44 59 8 41
2021/2022148 7 4 14 9 4 12 16 28 8 17 20 9
2022/2023238 2 16 6 6 28 26 16 12 82 12 23 9
2023/202456 15 19 22 0 0 0 0 0 0 0 0 0
Totale 946