IRIS
SAMPAOLO, Simone
 Distribuzione geografica
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Continente #
EU - Europa 7.623
NA - Nord America 3.587
AS - Asia 2.759
SA - Sud America 488
AF - Africa 43
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 2
Totale 14.507
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Nazione #
RU - Federazione Russa 4.563
US - Stati Uniti d'America 3.546
SG - Singapore 1.012
IE - Irlanda 897
IT - Italia 708
CN - Cina 622
HK - Hong Kong 466
UA - Ucraina 430
BR - Brasile 396
GB - Regno Unito 333
VN - Vietnam 292
DE - Germania 215
FI - Finlandia 116
TR - Turchia 113
SE - Svezia 100
FR - Francia 94
KR - Corea 88
GR - Grecia 78
IN - India 52
AR - Argentina 36
JP - Giappone 23
BD - Bangladesh 21
ID - Indonesia 18
BE - Belgio 17
CA - Canada 16
EC - Ecuador 16
AT - Austria 12
CO - Colombia 12
NL - Olanda 12
MX - Messico 11
ZA - Sudafrica 11
ES - Italia 10
IQ - Iraq 10
CL - Cile 8
MA - Marocco 8
UZ - Uzbekistan 8
IR - Iran 6
PL - Polonia 6
BG - Bulgaria 5
KE - Kenya 5
PE - Perù 5
PY - Paraguay 5
VE - Venezuela 5
AU - Australia 4
BJ - Benin 4
HU - Ungheria 4
IL - Israele 4
KZ - Kazakistan 4
PK - Pakistan 4
AL - Albania 3
AO - Angola 3
CH - Svizzera 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
EG - Egitto 3
LT - Lituania 3
SV - El Salvador 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
BO - Bolivia 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
EU - Europa 2
JM - Giamaica 2
LB - Libano 2
PH - Filippine 2
RO - Romania 2
RS - Serbia 2
SN - Senegal 2
TN - Tunisia 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
GE - Georgia 1
HN - Honduras 1
JO - Giordania 1
KG - Kirghizistan 1
LV - Lettonia 1
LY - Libia 1
MD - Moldavia 1
MN - Mongolia 1
MY - Malesia 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
OM - Oman 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
Totale 14.507
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Città #
Moscow 1.609
Dublin 895
Jacksonville 657
Hong Kong 459
Singapore 413
Santa Clara 387
Chandler 314
San Jose 271
Ashburn 225
Princeton 129
Beijing 110
Ho Chi Minh City 106
Roxbury 99
Medford 93
Ann Arbor 86
Seoul 81
Caserta 70
Hefei 60
Hanoi 59
Wilmington 56
The Dalles 55
Boardman 53
Woodbridge 49
New York 47
Orange 44
Dallas 41
Cambridge 38
Naples 38
Nanjing 36
San Mateo 36
Bremen 30
Des Moines 30
Bengaluru 29
Rome 29
Napoli 25
São Paulo 24
Mountain View 23
Dearborn 22
Los Angeles 21
Düsseldorf 20
Milan 20
Kunming 19
Dong Ket 16
Nanchang 16
Brussels 14
Norwalk 14
Da Nang 13
Shanghai 13
Atlanta 12
Bologna 12
Munich 12
Guangzhou 11
Marcianise 11
Jinan 10
Nuremberg 10
Otranto 10
Chicago 9
Frankfurt am Main 9
Stockholm 9
Barano D'ischia 8
Belo Horizonte 8
Brasília 8
Haiphong 8
Hải Dương 8
London 8
Orem 8
Redwood City 8
Tashkent 8
Tianjin 8
Amsterdam 7
Brooklyn 7
Catania 7
Changsha 7
Hangzhou 7
Helsinki 7
Jakarta 7
Manaus 7
Porto Alegre 7
Ribeirão Preto 7
Rio de Janeiro 7
Salvador 7
Turku 7
Auburn Hills 6
Eboli 6
Falls Church 6
Florence 6
Johannesburg 6
Ninh Bình 6
Salerno 6
Torino 6
Toronto 6
Vienna 6
Biên Hòa 5
Chennai 5
Chongqing 5
Council Bluffs 5
Curitiba 5
Dhaka 5
Ferrara 5
Guayaquil 5
Totale 7.380
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Nome #
Le iperCKemie familiari 384
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 204
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients 201
Sistema nervoso centrale 163
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 163
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 162
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 162
Identification and characterization of a novel member of the dystrobrevin gene family 159
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 157
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 156
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease 154
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 153
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 153
Adult polyglucosan body disease; novel homozygous missense mutation in the glycogen-branching enzyme gene in an italian patient. 152
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients 152
A Novel Missense Mutation in CAV3 Gene in an Italian Family With Persistent hyperCKemia, Myalgia and Hypercholesterolemia: Double-trouble 150
Adult-onset brain tumors and neurodegeneration: Are polyphenols protective? 149
Biochemical and morphological evidences supporting the hypothesis of a role of Tgase in the pathogeneisi of Chorea-Acanthocytosis 148
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 147
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease 146
A coding variant in GRIN3A gene is associated with migraine in italian population. 145
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 143
Symptomatic heterozygosity due to definite GAA mutation in late onset Pompe disease 142
Altered glial fibrillary acidic protein immunoreactivity in rat brain following chronic hypoxia 141
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 140
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies 139
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 139
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) 203-205 138
Neuro-Behçet’s Disease presenting as an isolated progressive cognitive and behavioral syndrome 138
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 137
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 137
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families 131
A large kindred with Paramyotonia Congenita 130
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds. 126
[Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia] 122
Associazione di distrofia muscolare congenita e malformazioni oculo-cerebrali : presentazione di un caso 122
A promoter deletion at the dystrophin gene in a severe muscular Duchenne-like phenotype 121
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. 118
Trattamento precoce del dolore emicranico e della allodinia cutanea con rizatriptan 10 mg RPD 117
Autonomic neuropathy in mixed cryoglobulinemia 117
Long-term effects of asymmetrical posture in boxing assessed by baropodometry 117
Symptomatic heterozygosity due to definite GAA mutations in late onset Pompe disease 116
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 116
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 116
Histological, histochemical and biochemical analysis in Kearns-Sayre syndrome: a case report 114
Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy 113
Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease 112
Hiatal hernia recurrence: surgical complication or disease? Electron microscope findings of the diaphragmatic pillars 112
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 112
Familial amyloidotic polyneuropathy: description of an Italian kindred 111
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" 111
Prostaglandin Synthesis Is Involved In The Induction Of MyoD Expression 109
Hemicorea-hemiballismus in a patient with non-ketotic hyperglicaemia mimicking basal ganglia hemorrage: a case report 109
Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease 108
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 108
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 107
Genotype-phenotype correlation analysis in a large italian family with late-onset glycogenosis II. 106
Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas - CT and MRI aspects: Report of two new cases and literature review 106
Novel autophagic vacuolar myopathies: phenotype and genotype features 105
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease 103
Klinische Neuropathologie 103
Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship 103
Peripheral neuropathy in hepatitis-related mixed cryoglobulinemia: electrophysiologic follow-up study 100
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) 100
Cerebral vascular anomalies in a large italian family with late-onset glycogenosis II. 100
Peripheral nervous system involvement in Klippel-Trenaunay syndrome 99
Blood-brain barrier permeability to micromolecules and edema formation in the early phase of incomplete continuous ischemia 97
Semeiotica strumentale: indagini morfologiche 97
Pheripheral nervous system involvement in Klippel-Trenaunay syndrome 97
Rasagiline for sleep disorders in patients with Parkinson’s disease: A prospective observational study 97
Disease phenotype and genetic profile of a large italian family with late-onset glycogenosis II 96
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging 96
Short and long term effects of Nabiximols on balance and walking assessed by 3D-gait analysis in people with Multiple Sclerosis and spasticity 96
Paramedian hourglass epidermoid extending above and below the tentorium 95
Molecular basis and clinical manegement of Pompe disease 94
First study on the peptidergic innervation of the brain superior sagittal sinus in humans. 94
The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases 94
Pompe disease: clinical, diagnostic and genetic aspects. Introductory notes to Pompe disease and aims of the Meeting. 93
Distrophin immunoreactivity in a case of cytoplasmic body myopathy with fatal respiratory failure 93
Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene 93
Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle 92
Tumori del sistema nervoso 92
Nonhereditary amyloidosis presenting with a syringomyelia-like syndrome 92
Successful long-term therapy with flecainide in a family with paramyotonia congenita 91
Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS 91
Morphometrical evaluation of triflusal in brain infarction 91
Tuberculous Meningitis with atypical presentation. A case report 90
Infections of the Central Nervous System 90
Pheripheral neuropathy in Hepatitis C virus infected patients with and without mixed cryoglobulinemia 90
Lack of sodium channel mutation in an Italian family with paramyotonia congenita 89
Evidence for additive effect of variants in GRIA1 and GRIA3 genes on migrain predisposition 89
Churg-Strauss Syndrome: a clinical, electrophysiological and neuropathological study of 3 cases 89
Genetic linkage and gene mutation analysis in an italian family with paramyotonia congenita 89
Congenital fibre type disproportion and non-compaction cardiomyopathy associated with insulin resistance 89
Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy 88
Interessamento del sistema nervoso periferico in pazienti con crioglobulinemia mista HCV-correlata. Studio di 133 pazienti 88
Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors. 87
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son 87
Hyperckemia in the neuroacanthocytosis: possible tissutal transglutaminase abnormality in skeletal muscle 87
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix 86
Totale 11.993
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Categoria #
all - tutte 49.049
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 49.049
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021284 0 0 0 0 0 0 0 0 0 135 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
2024/20251.780 6 29 24 24 326 157 265 133 269 304 144 99
2025/20266.977 232 199 335 411 634 4.253 350 172 276 115 0 0
Totale 14.690