IRIS
SAMPAOLO, Simone
 Distribuzione geografica
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Continente #
EU - Europa 2.839
NA - Nord America 2.387
AS - Asia 371
SA - Sud America 8
AF - Africa 7
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.617
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Nazione #
US - Stati Uniti d'America 2.382
IE - Irlanda 893
IT - Italia 638
UA - Ucraina 422
GB - Regno Unito 316
CN - Cina 225
DE - Germania 183
FI - Finlandia 103
TR - Turchia 102
SE - Svezia 92
GR - Grecia 76
FR - Francia 72
BE - Belgio 17
VN - Vietnam 16
KR - Corea 7
ES - Italia 6
IR - Iran 6
NL - Olanda 6
CA - Canada 5
HK - Hong Kong 5
BJ - Benin 4
BR - Brasile 4
IN - India 4
SG - Singapore 4
HU - Ungheria 3
AU - Australia 2
CH - Svizzera 2
CL - Cile 2
DZ - Algeria 2
EU - Europa 2
PL - Polonia 2
RO - Romania 2
AR - Argentina 1
AT - Austria 1
CO - Colombia 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
EG - Egitto 1
ID - Indonesia 1
JP - Giappone 1
LT - Lituania 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 5.617
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Città #
Dublin 891
Jacksonville 657
Chandler 314
Princeton 129
Ashburn 113
Roxbury 99
Medford 93
Ann Arbor 86
Caserta 70
Wilmington 56
Beijing 52
Woodbridge 49
Boardman 48
Orange 44
Cambridge 38
San Mateo 36
Nanjing 35
New York 34
Bremen 30
Des Moines 29
Napoli 25
Mountain View 23
Rome 23
Dearborn 22
Naples 22
Hefei 21
Düsseldorf 20
Kunming 19
Dong Ket 16
Milan 16
Nanchang 16
Brussels 14
Norwalk 14
Bologna 12
Otranto 10
Jinan 9
Barano D'ischia 8
Redwood City 8
Catania 7
Marcianise 7
Auburn Hills 6
Eboli 6
Falls Church 6
Florence 6
Salerno 6
Torino 6
Changsha 5
Ferrara 5
Hangzhou 5
Houston 5
Lecce 5
Los Angeles 5
Shanghai 5
Tianjin 5
Trento 5
Buscoldo 4
Guangzhou 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
Genova 3
Lanzhou 3
London 3
Monfalcone 3
Ningbo 3
Orvieto 3
Paris 3
Porto 3
Rimini 3
Santa Maria a Vico 3
Shenyang 3
Staffolo 3
Verona 3
Vicenza 3
Agrate Brianza 2
Avellino 2
Bastia umbra 2
Brembate 2
Brescia 2
Brusciano 2
Cagliari 2
Casavatore 2
Cascina 2
Cassano Delle Murge 2
Changchun 2
Chengdu 2
Como 2
Cumiana 2
Cuneo 2
Elora 2
Ercolano 2
Totale 3.422
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Nome #
Le iperCKemie familiari 334
Sistema nervoso centrale 103
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients 89
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients 88
Neuro-Behçet’s Disease presenting as an isolated progressive cognitive and behavioral syndrome 84
Symptomatic heterozygosity due to definite GAA mutation in late onset Pompe disease 82
Identification and characterization of a novel member of the dystrobrevin gene family 69
Biochemical and morphological evidences supporting the hypothesis of a role of Tgase in the pathogeneisi of Chorea-Acanthocytosis 68
Histological, histochemical and biochemical analysis in Kearns-Sayre syndrome: a case report 64
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 64
Symptomatic heterozygosity due to definite GAA mutations in late onset Pompe disease 61
Prostaglandin Synthesis Is Involved In The Induction Of MyoD Expression 61
A coding variant in GRIN3A gene is associated with migraine in italian population. 60
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 60
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 60
Familial amyloidotic polyneuropathy: description of an Italian kindred 58
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease 58
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. 58
Adult polyglucosan body disease; novel homozygous missense mutation in the glycogen-branching enzyme gene in an italian patient. 58
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 58
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 58
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 57
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 56
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 56
Altered glial fibrillary acidic protein immunoreactivity in rat brain following chronic hypoxia 55
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 55
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 55
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 55
Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas - CT and MRI aspects: Report of two new cases and literature review 52
Hiatal hernia recurrence: surgical complication or disease? Electron microscope findings of the diaphragmatic pillars 51
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 51
Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease 51
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families 51
Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy 50
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 50
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 50
Semeiotica strumentale: indagini morfologiche 50
A large kindred with Paramyotonia Congenita 50
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds. 50
Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle 49
Genotype-phenotype correlation analysis in a large italian family with late-onset glycogenosis II. 49
Pompe disease: clinical, diagnostic and genetic aspects. Introductory notes to Pompe disease and aims of the Meeting. 48
Disease phenotype and genetic profile of a large italian family with late-onset glycogenosis II 48
Peripheral neuropathy in hepatitis-related mixed cryoglobulinemia: electrophysiologic follow-up study 47
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 47
Hemicorea-hemiballismus in a patient with non-ketotic hyperglicaemia mimicking basal ganglia hemorrage: a case report 47
Paramedian hourglass epidermoid extending above and below the tentorium 46
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) 46
Congenital fibre type disproportion and non-compaction cardiomyopathy associated with insulin resistance 46
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease 45
Blood-brain barrier permeability to micromolecules and edema formation in the early phase of incomplete continuous ischemia 45
Nonhereditary amyloidosis presenting with a syringomyelia-like syndrome 45
Autonomic neuropathy in mixed cryoglobulinemia 44
Rasagiline for sleep disorders in patients with Parkinson’s disease: A prospective observational study 44
Adult-onset brain tumors and neurodegeneration: Are polyphenols protective? 43
A Novel Missense Mutation in CAV3 Gene in an Italian Family With Persistent hyperCKemia, Myalgia and Hypercholesterolemia: Double-trouble 43
Klinische Neuropathologie 41
Cerebral vascular anomalies in a large italian family with late-onset glycogenosis II. 41
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 41
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 41
Associazione di distrofia muscolare congenita e malformazioni oculo-cerebrali : presentazione di un caso 40
Trattamento precoce del dolore emicranico e della allodinia cutanea con rizatriptan 10 mg RPD 39
Distrophin immunoreactivity in a case of cytoplasmic body myopathy with fatal respiratory failure 39
Interessamento del sistema nervoso periferico in pazienti con crioglobulinemia mista HCV-correlata. Studio di 133 pazienti 38
CNS involvement in Systemic Sclerosis ? 38
Peripheral nervous system involvement in Klippel-Trenaunay syndrome 37
Tumori del sistema nervoso 37
A promoter deletion at the dystrophin gene in a severe muscular Duchenne-like phenotype 37
First study on the peptidergic innervation of the brain superior sagittal sinus in humans. 37
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix 37
[Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia] 36
Evidence for additive effect of variants in GRIA1 and GRIA3 genes on migrain predisposition 36
Muscle cytoplasmic bodies and glycogen accumulation in a case of fatal respiratory insufficiency 36
Molecular basis and clinical manegement of Pompe disease 36
Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene 36
Parkinsonism and mitochondrial myopathy in a calcium metabolism syndrome 35
Hyperckemia in the neuroacanthocytosis: possible tissutal transglutaminase abnormality in skeletal muscle 35
Tuberculous Meningitis with atypical presentation. A case report 35
Genetic linkage and gene mutation analysis in an italian family with paramyotonia congenita 35
null 35
Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS 34
Oculo-cerebral malformations with congenital muscular dystrophy: Case report 34
Churg-Strauss Syndrome: a clinical, electrophysiological and neuropathological study of 3 cases 34
CSF cytology is the first choice analysis to diagnose carcinomatous meningitis 34
The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases 34
Neuroradiological findings in multiloculated hydrocephalus 33
Pheripheral nervous system involvement in Klippel-Trenaunay syndrome 33
Lack of sodium channel mutation in an Italian family with paramyotonia congenita 32
Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors. 32
Malformzioni del sistema nervoso 31
Thyrotoxic periodic paralysis: a case report 31
Proton magnetic resonance analysis of cerebrospinal fluid 31
Short and long term effects of Nabiximols on balance and walking assessed by 3D-gait analysis in people with Multiple Sclerosis and spasticity 31
Pathological changes in organs of rats chronically exposed to hypoxia. Development of pulmonary lipidosis 30
Indagini morfologiche 30
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" 30
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son 29
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 29
Leprous neuropathy: a case report 29
Neuroscienze: Neuropatologia 29
Totale 4.950
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Categoria #
all - tutte 20.417
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 20.417
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201922 0 0 0 0 0 0 0 0 0 0 5 17
2019/2020785 129 124 28 15 109 37 174 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
2023/2024523 39 22 115 48 227 42 6 13 6 4 1 0
Totale 5.797