IRIS
SAMPAOLO, Simone
 Distribuzione geografica
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Continente #
EU - Europa 2.881
NA - Nord America 2.803
AS - Asia 641
SA - Sud America 9
AF - Africa 7
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 6.346
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Nazione #
US - Stati Uniti d'America 2.793
IE - Irlanda 893
IT - Italia 667
UA - Ucraina 422
GB - Regno Unito 317
CN - Cina 258
DE - Germania 188
SG - Singapore 188
FI - Finlandia 106
TR - Turchia 102
SE - Svezia 92
GR - Grecia 76
FR - Francia 73
HK - Hong Kong 38
KR - Corea 25
BE - Belgio 17
VN - Vietnam 16
CA - Canada 10
ES - Italia 6
IR - Iran 6
NL - Olanda 6
BJ - Benin 4
BR - Brasile 4
IN - India 4
DK - Danimarca 3
HU - Ungheria 3
ID - Indonesia 3
AU - Australia 2
CH - Svizzera 2
CL - Cile 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
EU - Europa 2
PL - Polonia 2
RO - Romania 2
AR - Argentina 1
AT - Austria 1
CO - Colombia 1
EC - Ecuador 1
EG - Egitto 1
JP - Giappone 1
LT - Lituania 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 6.346
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Città #
Dublin 891
Jacksonville 657
Santa Clara 381
Chandler 314
Princeton 129
Singapore 128
Ashburn 114
Roxbury 99
Medford 93
Ann Arbor 86
Caserta 70
Wilmington 56
Boardman 53
Beijing 52
Woodbridge 49
Orange 44
Cambridge 38
San Mateo 36
Nanjing 35
New York 34
Hong Kong 33
Naples 31
Bremen 30
Des Moines 29
Rome 27
Napoli 25
Mountain View 23
Dearborn 22
Hefei 21
Düsseldorf 20
Kunming 19
Seoul 19
Dong Ket 16
Milan 16
Nanchang 16
Brussels 14
Norwalk 14
Bologna 12
Los Angeles 11
Marcianise 11
Otranto 10
Dallas 9
Jinan 9
Barano D'ischia 8
Redwood City 8
Shanghai 8
Catania 7
Auburn Hills 6
Eboli 6
Falls Church 6
Florence 6
Guangzhou 6
Munich 6
Salerno 6
Torino 6
Toronto 6
Changsha 5
Ferrara 5
Hangzhou 5
Houston 5
Lecce 5
Tianjin 5
Trento 5
Buscoldo 4
Helsinki 4
Paris 4
Sacile 4
San Felice A Cancello 4
Seattle 4
Siegen 4
Stockholm 4
Tabriz 4
Amsterdam 3
Ancona 3
Ariano Irpino 3
Bergamo 3
Chongqing 3
Dalmine 3
Favara 3
Genova 3
Jakarta 3
Lanzhou 3
London 3
Monfalcone 3
Ningbo 3
Orvieto 3
Porto 3
Rimini 3
Santa Maria a Vico 3
Shenyang 3
Staffolo 3
Verona 3
Vicenza 3
Wuxi 3
Aarhus 2
Agrate Brianza 2
Avellino 2
Aversa 2
Bastia umbra 2
Brembate 2
Totale 4.030
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Nome #
Le iperCKemie familiari 338
Sistema nervoso centrale 109
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients 99
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients 92
Neuro-Behçet’s Disease presenting as an isolated progressive cognitive and behavioral syndrome 88
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 87
Symptomatic heterozygosity due to definite GAA mutation in late onset Pompe disease 86
Identification and characterization of a novel member of the dystrobrevin gene family 79
Biochemical and morphological evidences supporting the hypothesis of a role of Tgase in the pathogeneisi of Chorea-Acanthocytosis 76
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 73
A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease. A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease 71
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 71
A coding variant in GRIN3A gene is associated with migraine in italian population. 70
Histological, histochemical and biochemical analysis in Kearns-Sayre syndrome: a case report 69
A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy 67
Symptomatic heterozygosity due to definite GAA mutations in late onset Pompe disease 66
Prostaglandin Synthesis Is Involved In The Induction Of MyoD Expression 66
Adult polyglucosan body disease; novel homozygous missense mutation in the glycogen-branching enzyme gene in an italian patient. 66
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 66
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease 65
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 64
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 64
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 63
Familial amyloidotic polyneuropathy: description of an Italian kindred 62
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. 62
Altered glial fibrillary acidic protein immunoreactivity in rat brain following chronic hypoxia 61
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 61
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 60
Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas - CT and MRI aspects: Report of two new cases and literature review 60
Hiatal hernia recurrence: surgical complication or disease? Electron microscope findings of the diaphragmatic pillars 58
A comment on: 'Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy' by Paola Strocchi et al., FEBS Letters 359 (1995) 203-205 58
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 57
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 57
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families 57
A large kindred with Paramyotonia Congenita 56
Genotype-phenotype correlation analysis in a large italian family with late-onset glycogenosis II. 56
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds. 56
Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease 55
Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy 55
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 54
Hemicorea-hemiballismus in a patient with non-ketotic hyperglicaemia mimicking basal ganglia hemorrage: a case report 54
Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle 53
Semeiotica strumentale: indagini morfologiche 53
Disease phenotype and genetic profile of a large italian family with late-onset glycogenosis II 53
Pompe disease: clinical, diagnostic and genetic aspects. Introductory notes to Pompe disease and aims of the Meeting. 52
Congenital fibre type disproportion and non-compaction cardiomyopathy associated with insulin resistance 51
Peripheral neuropathy in hepatitis-related mixed cryoglobulinemia: electrophysiologic follow-up study 50
Paramedian hourglass epidermoid extending above and below the tentorium 50
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease 50
Rasagiline for sleep disorders in patients with Parkinson’s disease: A prospective observational study 50
Autonomic neuropathy in mixed cryoglobulinemia 49
Nonhereditary amyloidosis presenting with a syringomyelia-like syndrome 49
Exome sequencing approach to define the complex genetic substrate in a family with insulin resistance, left ventricular noncompaction (LVNC) and congenital fiber type disproportion (CFTD) 49
Adult-onset brain tumors and neurodegeneration: Are polyphenols protective? 49
Blood-brain barrier permeability to micromolecules and edema formation in the early phase of incomplete continuous ischemia 48
Klinische Neuropathologie 48
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 48
A Novel Missense Mutation in CAV3 Gene in an Italian Family With Persistent hyperCKemia, Myalgia and Hypercholesterolemia: Double-trouble 48
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 48
Associazione di distrofia muscolare congenita e malformazioni oculo-cerebrali : presentazione di un caso 45
Cerebral vascular anomalies in a large italian family with late-onset glycogenosis II. 45
Distrophin immunoreactivity in a case of cytoplasmic body myopathy with fatal respiratory failure 44
[Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia] 43
A promoter deletion at the dystrophin gene in a severe muscular Duchenne-like phenotype 43
Trattamento precoce del dolore emicranico e della allodinia cutanea con rizatriptan 10 mg RPD 42
Interessamento del sistema nervoso periferico in pazienti con crioglobulinemia mista HCV-correlata. Studio di 133 pazienti 42
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix 42
Peripheral nervous system involvement in Klippel-Trenaunay syndrome 41
CNS involvement in Systemic Sclerosis ? 41
Molecular basis and clinical manegement of Pompe disease 41
First study on the peptidergic innervation of the brain superior sagittal sinus in humans. 41
Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene 41
Evidence for additive effect of variants in GRIA1 and GRIA3 genes on migrain predisposition 40
Tumori del sistema nervoso 40
Hyperckemia in the neuroacanthocytosis: possible tissutal transglutaminase abnormality in skeletal muscle 40
Muscle cytoplasmic bodies and glycogen accumulation in a case of fatal respiratory insufficiency 40
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 40
Parkinsonism and mitochondrial myopathy in a calcium metabolism syndrome 39
Tuberculous Meningitis with atypical presentation. A case report 39
CSF cytology is the first choice analysis to diagnose carcinomatous meningitis 39
Churg-Strauss Syndrome: a clinical, electrophysiological and neuropathological study of 3 cases 38
Genetic linkage and gene mutation analysis in an italian family with paramyotonia congenita 38
The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases 38
Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS 37
Oculo-cerebral malformations with congenital muscular dystrophy: Case report 37
Lack of sodium channel mutation in an Italian family with paramyotonia congenita 36
Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors. 36
Neuroradiological findings in multiloculated hydrocephalus 36
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" 36
Pheripheral nervous system involvement in Klippel-Trenaunay syndrome 36
Short and long term effects of Nabiximols on balance and walking assessed by 3D-gait analysis in people with Multiple Sclerosis and spasticity 36
Malformzioni del sistema nervoso 35
Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship 35
null 35
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging 35
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 35
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 34
Thyrotoxic periodic paralysis: a case report 34
Proton magnetic resonance analysis of cerebrospinal fluid 34
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son 33
Totale 5.514
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Categoria #
all - tutte 28.562
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 28.562
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020343 0 0 0 0 0 0 174 54 48 25 21 21
2020/2021947 80 3 113 47 139 14 132 108 27 135 99 50
2021/2022878 54 32 4 28 284 19 28 27 40 57 56 249
2022/20231.491 148 27 27 97 124 107 13 59 785 20 48 36
2023/2024659 39 22 115 48 227 42 6 13 6 4 60 77
2024/2025596 6 29 24 24 326 157 30 0 0 0 0 0
Totale 6.529