MUSUMECI, Olimpia
 Distribuzione geografica
Continente #
EU - Europa 523
NA - Nord America 147
AS - Asia 77
AF - Africa 8
OC - Oceania 7
SA - Sud America 5
Totale 767
Nazione #
IT - Italia 329
US - Stati Uniti d'America 138
IE - Irlanda 52
FR - Francia 45
VN - Vietnam 32
DE - Germania 27
PL - Polonia 26
GB - Regno Unito 21
TR - Turchia 14
JP - Giappone 11
IN - India 9
AU - Australia 7
ZA - Sudafrica 6
CA - Canada 5
CN - Cina 4
MX - Messico 4
RO - Romania 4
CL - Cile 3
PH - Filippine 3
BE - Belgio 2
BR - Brasile 2
EG - Egitto 2
HU - Ungheria 2
KR - Corea 2
NL - Olanda 2
NO - Norvegia 2
SE - Svezia 2
TW - Taiwan 2
UA - Ucraina 2
CH - Svizzera 1
CZ - Repubblica Ceca 1
FI - Finlandia 1
GR - Grecia 1
PT - Portogallo 1
RS - Serbia 1
RU - Federazione Russa 1
Totale 767
Città #
Messina 213
Dublin 52
Dong Ket 30
Warsaw 26
Rome 17
Catania 10
Piazza Armerina 8
Boardman 6
Johannesburg 6
Nürnberg 6
Padova 6
Paris 6
Ashburn 5
Leawood 5
Pittsburgh 5
Berkeley 4
Chicago 4
Chino Valley 4
Fairfield 4
La Grange 4
Modica 4
Tokyo 4
Trapani 4
Cisano Bergamasco 3
Houston 3
Junction City 3
Melbourne 3
Milan 3
Mittweida 3
Monterrey 3
Mountain View 3
New York 3
Nilufer 3
San Severo 3
Sannomaru 3
Santiago 3
Scranton 3
Sydney 3
Waltham 3
Zhengzhou 3
Balıkesir 2
Basking Ridge 2
Bitonto 2
Bursa 2
Columbus 2
Concord 2
Dallas 2
Delhi 2
Hanoi 2
Henrico 2
Iasi 2
Icheon-si 2
Istanbul 2
Lisburn 2
Maarssen 2
Magnesia ad Sipylum 2
Manchester 2
Medford 2
Milpitas 2
Nashville 2
New Taipei 2
San Diego 2
Sanayi 2
Santa Venerina 2
Solihull 2
Stockholm 2
Sunderland 2
Titusville 2
Widnes 2
Winsford 2
Ancaster 1
Ankara 1
Athens 1
Banūr 1
Baton Rouge 1
Belgrade 1
Borgia 1
Brisbane 1
Brooklyn 1
Cagayan de Oro 1
Cairo 1
Candiolo 1
Capannori 1
Carson City 1
Charlotte 1
Council Bluffs 1
Darlington 1
Dayton 1
Delaware 1
Duncan 1
Easton 1
Elnesvagen 1
Falls Church 1
Genk 1
Genova 1
Grumo Nevano 1
Helsinki 1
Hilo 1
Juiz de Fora 1
Kecskemét 1
Totale 574
Nome #
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls, file de3e52b0-641a-762d-e053-3705fe0a30e0 229
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients, file de3e52b1-f03b-762d-e053-3705fe0a30e0 44
Syndromic parkinsonism and dementia associated with OPA1 missense mutations, file de3e52b0-54e1-762d-e053-3705fe0a30e0 35
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study, file de3e52b2-b122-762d-e053-3705fe0a30e0 27
Hippo signaling pathway is altered in Duchenne muscular dystrophy, file de3e52b1-ac65-762d-e053-3705fe0a30e0 20
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients, file de3e52b2-b826-762d-e053-3705fe0a30e0 20
A genetic modifier of symptom onset in Pompe disease, file de3e52b4-0087-762d-e053-3705fe0a30e0 20
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 19
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 18
Muscle MRI in neutral lipid storage disease (NLSD), file de3e52b4-051e-762d-e053-3705fe0a30e0 18
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models, file de3e52b1-4256-762d-e053-3705fe0a30e0 15
Copy number variants account for a tiny fraction of undiagnosed myopathic patients, file de3e52b1-cafa-762d-e053-3705fe0a30e0 15
Diagnostic tools in late onset Pompe disease (LOPD), file de3e52b2-23c1-762d-e053-3705fe0a30e0 15
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study, file de3e52b0-64f4-762d-e053-3705fe0a30e0 13
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study, file de3e52b3-da80-762d-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 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
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone, file de3e52b1-f03d-762d-e053-3705fe0a30e0 10
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
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-a933-762d-e053-3705fe0a30e0 9
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population, file de3e52af-f46e-762d-e053-3705fe0a30e0 8
Spectrum of movement disorders in mitochondrial diseases, file de3e52b3-bde7-762d-e053-3705fe0a30e0 7
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
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-9c58-762d-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
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-bd00-762d-e053-3705fe0a30e0 5
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3, file de3e52b0-42ae-762d-e053-3705fe0a30e0 4
null, file de3e52b0-56be-762d-e053-3705fe0a30e0 4
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle, file de3e52b2-a1e3-762d-e053-3705fe0a30e0 4
microRNAs as biomarkers in Pompe disease, file de3e52b3-547e-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
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects, file 9d694645-b1bc-41cf-a15b-5fe6a0cdf0c4 3
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial, file b7362efe-70bf-4244-8450-c0b39ef50389 3
Congenital myopathies: Clinical phenotypes and new diagnostic tools, file de3e52b1-4eae-762d-e053-3705fe0a30e0 3
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-9c56-762d-e053-3705fe0a30e0 3
Muscle Pain, Weakness and/or Sensory Disorder, file de3e52b3-8a6d-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
Posterior reversible encephalopathy syndrome (PRES) and infection: a systematic review of the literature, file de3e52b4-b806-762d-e053-3705fe0a30e0 3
Statins Neuromuscular Adverse Effects, file f1b6886a-c098-445e-811d-c54e10a8d43d 3
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial, file 79aa81b0-b486-4340-acc8-9a24417a9672 2
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL., file de3e52ae-ba8a-762d-e053-3705fe0a30e0 2
Therapeutic approaches in the late onset form of GSD II, file de3e52ae-e87f-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
MRI findings of neutrophilic fasciitis in a patient with acute febrile neutrophilic dermatosis (Sweet's syndrome), file de3e52b0-5daf-762d-e053-3705fe0a30e0 2
Measuring quality of life impairment in skeletal muscle channelopathies, file de3e52b0-64f5-762d-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
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
Posterior reversible encephalopathy syndrome (PRES) and infection: a systematic review of the literature, file de3e52b1-cac9-762d-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
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy, file de3e52b3-ca42-762d-e053-3705fe0a30e0 2
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII), file de3e52b5-0012-762d-e053-3705fe0a30e0 2
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort, file 13db29fc-b02c-43c4-9422-555c0204c6ac 1
Methotrexate as a steroid-sparing agent in myasthenia gravis: A preliminary retrospective study, file 3e033b99-60ca-4830-875e-fbfaa1875113 1
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3, file 8fcfd23f-8827-419b-93ac-6b49a5cb601f 1
null, file bb4fddac-3134-4d8c-bef9-4c87061e86e1 1
Chinese red rice depletes muscle coenzyme Q10 and mantains muscle damage after discontinuation of statin treatment., file de3e52ae-acd4-762d-e053-3705fe0a30e0 1
Muscle phosphoglycerate mutase deficiency revisited, file de3e52ae-b9c3-762d-e053-3705fe0a30e0 1
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort., file de3e52ae-ba89-762d-e053-3705fe0a30e0 1
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation, file de3e52ae-c4fe-762d-e053-3705fe0a30e0 1
Calpain 3 deficiency in Quail Eater's disease, file de3e52ae-c669-762d-e053-3705fe0a30e0 1
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency, file de3e52ae-d7c7-762d-e053-3705fe0a30e0 1
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS, file de3e52ae-e3dc-762d-e053-3705fe0a30e0 1
Are there ERT defined guidelines for Pompe disease?, file de3e52ae-e881-762d-e053-3705fe0a30e0 1
Early is better? A new algorithm for early diagnosis in Late onset Pompe Disease (LOPD)., file de3e52ae-f37b-762d-e053-3705fe0a30e0 1
Mitochondrial disorders in adults, file de3e52af-0673-762d-e053-3705fe0a30e0 1
Myoclonus in mitochondrial disorders., file de3e52af-99f8-762d-e053-3705fe0a30e0 1
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography, file de3e52b0-4912-762d-e053-3705fe0a30e0 1
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita, file de3e52b0-5553-762d-e053-3705fe0a30e0 1
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis., file de3e52b0-5b18-762d-e053-3705fe0a30e0 1
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection., file de3e52b0-5e1d-762d-e053-3705fe0a30e0 1
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers, file de3e52b0-5eb7-762d-e053-3705fe0a30e0 1
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, file de3e52b0-65ca-762d-e053-3705fe0a30e0 1
null, file de3e52b0-6649-762d-e053-3705fe0a30e0 1
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network, file de3e52b0-69d9-762d-e053-3705fe0a30e0 1
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency, file de3e52b0-82e0-762d-e053-3705fe0a30e0 1
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease, file de3e52b1-be50-762d-e053-3705fe0a30e0 1
A mobile app for patients with Pompe disease and its possible clinical applications, file de3e52b1-c936-762d-e053-3705fe0a30e0 1
Muscle pain in mitochondrial diseases: a picture from the Italian network, file de3e52b1-ca04-762d-e053-3705fe0a30e0 1
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file de3e52b1-caf8-762d-e053-3705fe0a30e0 1
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey, file de3e52b3-13b1-762d-e053-3705fe0a30e0 1
Revisiting mitochondrial ocular myopathies: a study from the Italian Network, file de3e52b3-2c90-762d-e053-3705fe0a30e0 1
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry), file de3e52b3-9de9-762d-e053-3705fe0a30e0 1
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial, file de3e52b5-62b4-762d-e053-3705fe0a30e0 1
Totale 768
Categoria #
all - tutte 1.757
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 1.757


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191 0 0 0 0 0 0 0 0 0 1 0 0
2019/2020123 0 0 1 0 0 0 0 0 17 33 39 33
2020/2021191 19 2 2 4 6 1 22 25 16 51 8 35
2021/2022112 7 3 13 11 3 9 10 24 3 10 15 4
2022/2023126 1 6 2 2 12 11 10 6 55 3 13 5
2023/2024182 12 8 8 16 20 7 41 30 23 17 0 0
Totale 768