MUSUMECI, Olimpia
 Distribuzione geografica
Continente #
NA - Nord America 4.326
EU - Europa 3.505
AS - Asia 846
Continente sconosciuto - Info sul continente non disponibili 5
SA - Sud America 4
OC - Oceania 3
Totale 8.689
Nazione #
US - Stati Uniti d'America 4.306
IE - Irlanda 1.289
SE - Svezia 858
CN - Cina 767
IT - Italia 346
PL - Polonia 232
UA - Ucraina 212
FI - Finlandia 203
DE - Germania 178
GB - Regno Unito 49
BE - Belgio 42
NL - Olanda 31
IN - India 30
VN - Vietnam 30
FR - Francia 29
CA - Canada 19
HR - Croazia 11
IR - Iran 11
RU - Federazione Russa 11
DK - Danimarca 4
EU - Europa 4
AT - Austria 3
AU - Australia 3
SG - Singapore 3
CH - Svizzera 2
CL - Cile 2
CO - Colombia 2
HK - Hong Kong 2
LV - Lettonia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BG - Bulgaria 1
IQ - Iraq 1
KR - Corea 1
MD - Moldavia 1
MX - Messico 1
NO - Norvegia 1
SA - Arabia Saudita 1
Totale 8.689
Città #
Dublin 1.288
Chandler 821
Nyköping 547
Jacksonville 543
Beijing 291
Princeton 252
Medford 239
Warsaw 232
Cambridge 197
Dearborn 190
Ashburn 181
Des Moines 175
Ann Arbor 174
Messina 119
New York 95
Wilmington 86
Boardman 71
Jinan 63
San Mateo 62
Shenyang 59
Nanjing 53
Ningbo 34
Rome 34
Brussels 30
Dong Ket 30
Hangzhou 28
Houston 28
Taizhou 28
Woodbridge 28
Zhengzhou 28
Bremen 27
Hebei 27
Tianjin 24
Falls Church 17
Nanchang 17
Pune 17
Catania 15
Guangzhou 15
Fuzhou 14
Helsinki 14
Haikou 13
Lancaster 13
Milan 13
Norwalk 12
Seattle 12
Waanrode 12
Washington 11
Zagreb 11
Changsha 10
Clearwater 9
Montréal 9
Ottawa 8
Leawood 7
Modica 7
Monmouth Junction 7
Taiyuan 7
Ardabil 6
Augusta 6
Hefei 6
Padova 6
Bologna 5
Lanzhou 5
Urbino 5
Cagliari 4
Chambéry 4
Indianapolis 4
Jiaxing 4
Mountain View 4
Strasbourg 4
Taranto 4
Bari 3
Camposampiero 3
Chicago 3
Kunming 3
Las Vegas 3
Monopoli 3
Mumbai 3
Naples 3
Palermo 3
Piazza Armerina 3
Vienna 3
Voghera 3
Amsterdam 2
Auburn Hills 2
Bengaluru 2
Chengdu 2
Fairfield 2
Gravina di Catania 2
Hong Kong 2
Kharkov 2
London 2
Medellín 2
Mineo 2
Modena 2
Napoli 2
Noicattaro 2
Novokuznetsk 2
Paris 2
Pinneberg 2
Riva 2
Totale 6.493
Nome #
Deficit multiplo di Acyl-CoA deidrogenasi responsivo alla riboflavina (MADD-RR): studio clinico, biochimico, genetico e spettroscopico 107
Hippo signaling pathway is altered in Duchenne muscular dystrophy 84
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) 83
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
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
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls 76
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study 70
Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency 68
null 67
Studio dell'espressione genica del muscolo scheletrico in pazienti affetti da glicogenosi II 64
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 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 63
Miopatie metaboliche 60
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation. 59
Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study 59
null 58
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes. 58
A cytochemical study of apoptosis in metabolic myopathies 58
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 58
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 58
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 58
Clinical and genetic charactherization in two families with muscle phosphofructokinase deficiency 57
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 57
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency 56
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene 56
Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation 56
Auditory system involvement study in 20 patients with late-onset Pompe disease 56
Spectrum of movement disorders in mitochondrial diseases 56
Fatal R631C mutation is also present in the adult form of CPTII deficiency 54
Ruolo patogenetico dei microRNAs nelle calpainopatie 54
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 53
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia 53
Are there ERT defined guidelines for Pompe disease? 53
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment 53
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 53
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 53
A genetic modifier of symptom onset in Pompe disease 53
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita 53
A study of auditory system in 20 patients with late onset Pompe disease 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
An unusual association of dominant optic atrophy with OPA1 mutations and parkinsonian syndrome. 51
Malattia di Chanarin-Dorfman: aspetti clinici, gemetici e neuroradiologici di un caso adulto seguito per 25 anni 51
Calpain 3 deficiency in Quail Eater's disease 51
The Italian Mitochondrial Registry: design and preliminary results 51
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 51
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 50
A life threatening case of β-enolase deficiency 50
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia 50
A benign case of congenital myotonic dystrophy 50
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis 50
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency 49
Red yeast rice ( Monascus Purpureus) as hypercholesterolemic drug: a case report of muscle damage 49
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease 49
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle 49
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS 49
Chanarin-Dorfman disease (CDD): clinical, genetic and neuroradiological aspects in an adult case followed over 25 years 48
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone 47
Dolori muscolari, deficit di forza e/o disturbi sensitivi 47
Hypokalemic myopathy secondary to aldosteronoma 46
Evidence of cardiovascular autonomic impairment in mitochondrial disorders 46
Muscle MRI in neutral lipid storage disease (NLSD) 46
Apoptosis in metabolic myopathies 45
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency 45
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 45
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function 45
Extension to the heart of metastatic lung cancer presenting as acute neurological syndrome: The key role of echocardiography 45
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis 45
microRNAs as biomarkers in Pompe disease 45
Physical and mental perception of quality of life in patients with myotonic dystrophies: correlation between objective and functional measures of muscle disability, cognitive, behavioral and educational aspects 44
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 44
Amyloid myopathy presenting with rhabdomyolysis. 44
Auditory system involvement study in 20 patients with lateonset pompe disease 44
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 44
Differential expression of microRNAs in primary and secondary calpainopathies 44
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models 44
Metabolic Myopathies 44
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. 43
Tubular aggregates: do they help in diagnosing neuromuscular disorders? 43
Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency. Neurology 43
Molecular and clinic characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP) 43
Multi-system neurological disease is common in patients with OPA1 mutations. 43
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation 43
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 43
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy 43
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD) 43
Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge 43
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 42
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease 42
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 42
MRI findings of neutrophilic fasciitis in a patient with acute febrile neutrophilic dermatosis (Sweet's syndrome) 41
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 41
Central and perypheral nervous system involvement in hereditary coproporphyria. 41
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy. 41
Muscle gene expression profile in adult onset acid maltase deficiency 41
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. 41
Clinical and genetic study in a patient with muscle phosphofructokinase deficiency. 40
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 40
Totale 5.216
Categoria #
all - tutte 36.284
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 36.284


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201933 0 0 0 0 0 0 0 0 0 18 3 12
2019/20201.146 112 52 4 59 4 197 118 81 23 237 207 52
2020/20211.412 89 32 312 51 233 78 82 127 47 226 82 53
2021/20221.508 8 201 16 73 69 18 137 75 32 137 174 568
2022/20233.408 302 265 174 214 248 330 47 197 1.501 15 85 30
2023/2024757 80 140 99 67 67 197 7 79 6 15 0 0
Totale 9.165