IRIS
SAMPAOLO, Simone
 Distribuzione geografica
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Continente #
EU - Europa 7.472
NA - Nord America 3.120
AS - Asia 2.456
SA - Sud America 476
AF - Africa 42
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 2
Totale 13.573
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Nazione #
RU - Federazione Russa 4.453
US - Stati Uniti d'America 3.084
SG - Singapore 910
IE - Irlanda 895
IT - Italia 694
CN - Cina 586
HK - Hong Kong 454
UA - Ucraina 430
BR - Brasile 390
GB - Regno Unito 331
DE - Germania 211
VN - Vietnam 153
FI - Finlandia 115
TR - Turchia 112
SE - Svezia 96
FR - Francia 88
KR - Corea 88
GR - Grecia 76
IN - India 46
AR - Argentina 35
BD - Bangladesh 21
JP - Giappone 21
BE - Belgio 17
ID - Indonesia 17
CA - Canada 15
EC - Ecuador 15
AT - Austria 11
ZA - Sudafrica 11
CO - Colombia 10
IQ - Iraq 10
MX - Messico 10
ES - Italia 9
CL - Cile 8
MA - Marocco 8
NL - Olanda 8
UZ - Uzbekistan 8
IR - Iran 6
PL - Polonia 6
BG - Bulgaria 5
KE - Kenya 5
PY - Paraguay 5
AU - Australia 4
BJ - Benin 4
HU - Ungheria 4
KZ - Kazakistan 4
PE - Perù 4
PK - Pakistan 4
VE - Venezuela 4
AL - Albania 3
AO - Angola 3
CH - Svizzera 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
IL - Israele 3
LT - Lituania 3
TH - Thailandia 3
BO - Bolivia 2
CZ - Repubblica Ceca 2
EG - Egitto 2
EU - Europa 2
JM - Giamaica 2
LB - Libano 2
RO - Romania 2
RS - Serbia 2
SN - Senegal 2
SV - El Salvador 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
CR - Costa Rica 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 13.573
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Città #
Moscow 1.533
Dublin 893
Jacksonville 657
Hong Kong 449
Santa Clara 384
Singapore 326
Chandler 314
Ashburn 176
Princeton 129
Beijing 109
Roxbury 99
Medford 93
Ann Arbor 86
Seoul 81
Caserta 70
Hefei 60
Ho Chi Minh City 60
Wilmington 56
The Dalles 55
Boardman 53
Woodbridge 49
New York 45
Orange 44
Dallas 39
Cambridge 38
Naples 38
Nanjing 36
San Mateo 36
Bremen 30
Bengaluru 29
Des Moines 29
Rome 29
Napoli 25
Mountain View 23
São Paulo 23
Dearborn 22
Hanoi 21
Düsseldorf 20
Milan 20
Kunming 19
Los Angeles 18
Dong Ket 16
Nanchang 16
Brussels 14
Norwalk 14
Shanghai 13
Bologna 12
Munich 12
Guangzhou 11
Marcianise 11
Jinan 10
Nuremberg 10
Otranto 10
Barano D'ischia 8
Brasília 8
London 8
Redwood City 8
Stockholm 8
Tashkent 8
Tianjin 8
Brooklyn 7
Catania 7
Changsha 7
Chicago 7
Hangzhou 7
Jakarta 7
Manaus 7
Porto Alegre 7
Ribeirão Preto 7
Rio de Janeiro 7
Salvador 7
Turku 7
Auburn Hills 6
Belo Horizonte 6
Eboli 6
Falls Church 6
Florence 6
Helsinki 6
Johannesburg 6
Salerno 6
Torino 6
Toronto 6
Chongqing 5
Curitiba 5
Da Nang 5
Dhaka 5
Ferrara 5
Frankfurt am Main 5
Guayaquil 5
Houston 5
Joinville 5
Lecce 5
Mexico City 5
Nairobi 5
Paris 5
San Francisco 5
Trento 5
Vienna 5
Amsterdam 4
Buscoldo 4
Totale 6.753
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Nome #
Le iperCKemie familiari 377
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients 188
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 180
Sistema nervoso centrale 155
Identification and characterization of a novel member of the dystrobrevin gene family 154
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 154
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 152
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 149
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients 146
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 146
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 144
Adult polyglucosan body disease; novel homozygous missense mutation in the glycogen-branching enzyme gene in an italian patient. 142
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 142
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease 141
Biochemical and morphological evidences supporting the hypothesis of a role of Tgase in the pathogeneisi of Chorea-Acanthocytosis 141
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 141
A coding variant in GRIN3A gene is associated with migraine in italian population. 141
A Novel Missense Mutation in CAV3 Gene in an Italian Family With Persistent hyperCKemia, Myalgia and Hypercholesterolemia: Double-trouble 141
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease 139
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 138
Adult-onset brain tumors and neurodegeneration: Are polyphenols protective? 137
Altered glial fibrillary acidic protein immunoreactivity in rat brain following chronic hypoxia 135
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) 203-205 135
Symptomatic heterozygosity due to definite GAA mutation in late onset Pompe disease 135
Neuro-Behçet’s Disease presenting as an isolated progressive cognitive and behavioral syndrome 135
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 133
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 132
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 128
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies 127
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 127
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families 123
A large kindred with Paramyotonia Congenita 122
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds. 122
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 115
Associazione di distrofia muscolare congenita e malformazioni oculo-cerebrali : presentazione di un caso 115
A promoter deletion at the dystrophin gene in a severe muscular Duchenne-like phenotype 115
[Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia] 112
Autonomic neuropathy in mixed cryoglobulinemia 112
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 111
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. 110
Trattamento precoce del dolore emicranico e della allodinia cutanea con rizatriptan 10 mg RPD 109
Symptomatic heterozygosity due to definite GAA mutations in late onset Pompe disease 109
Histological, histochemical and biochemical analysis in Kearns-Sayre syndrome: a case report 109
Long-term effects of asymmetrical posture in boxing assessed by baropodometry 109
Hiatal hernia recurrence: surgical complication or disease? Electron microscope findings of the diaphragmatic pillars 107
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 106
Familial amyloidotic polyneuropathy: description of an Italian kindred 105
Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease 105
Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy 105
Prostaglandin Synthesis Is Involved In The Induction Of MyoD Expression 104
Hemicorea-hemiballismus in a patient with non-ketotic hyperglicaemia mimicking basal ganglia hemorrage: a case report 104
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 104
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 103
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" 103
Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas - CT and MRI aspects: Report of two new cases and literature review 102
Novel autophagic vacuolar myopathies: phenotype and genotype features 101
Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship 99
Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease 97
Genotype-phenotype correlation analysis in a large italian family with late-onset glycogenosis II. 97
Peripheral neuropathy in hepatitis-related mixed cryoglobulinemia: electrophysiologic follow-up study 96
Klinische Neuropathologie 96
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 95
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease 94
Peripheral nervous system involvement in Klippel-Trenaunay syndrome 94
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) 94
Paramedian hourglass epidermoid extending above and below the tentorium 92
Cerebral vascular anomalies in a large italian family with late-onset glycogenosis II. 92
Rasagiline for sleep disorders in patients with Parkinson’s disease: A prospective observational study 92
Semeiotica strumentale: indagini morfologiche 91
Pheripheral nervous system involvement in Klippel-Trenaunay syndrome 91
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging 91
Blood-brain barrier permeability to micromolecules and edema formation in the early phase of incomplete continuous ischemia 90
Disease phenotype and genetic profile of a large italian family with late-onset glycogenosis II 90
The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases 90
Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle 89
Nonhereditary amyloidosis presenting with a syringomyelia-like syndrome 89
Pompe disease: clinical, diagnostic and genetic aspects. Introductory notes to Pompe disease and aims of the Meeting. 88
Short and long term effects of Nabiximols on balance and walking assessed by 3D-gait analysis in people with Multiple Sclerosis and spasticity 88
Tumori del sistema nervoso 87
Pheripheral neuropathy in Hepatitis C virus infected patients with and without mixed cryoglobulinemia 87
Molecular basis and clinical manegement of Pompe disease 87
Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS 86
Distrophin immunoreactivity in a case of cytoplasmic body myopathy with fatal respiratory failure 86
Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene 86
Morphometrical evaluation of triflusal in brain infarction 85
Evidence for additive effect of variants in GRIA1 and GRIA3 genes on migrain predisposition 85
Churg-Strauss Syndrome: a clinical, electrophysiological and neuropathological study of 3 cases 85
Lack of sodium channel mutation in an Italian family with paramyotonia congenita 84
Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors. 84
Genetic linkage and gene mutation analysis in an italian family with paramyotonia congenita 83
Congenital fibre type disproportion and non-compaction cardiomyopathy associated with insulin resistance 83
Interessamento del sistema nervoso periferico in pazienti con crioglobulinemia mista HCV-correlata. Studio di 133 pazienti 82
First study on the peptidergic innervation of the brain superior sagittal sinus in humans. 82
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix 82
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son 81
Hyperckemia in the neuroacanthocytosis: possible tissutal transglutaminase abnormality in skeletal muscle 80
Tuberculous Meningitis with atypical presentation. A case report 80
Successful long-term therapy with flecainide in a family with paramyotonia congenita 79
Pathological changes in organs of rats chronically exposed to hypoxia. Development of pulmonary lipidosis 79
Familial Amyloidotic Polyneuropathy: description of an Italian kinship 79
Totale 11.244
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Categoria #
all - tutte 46.885
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 46.885
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021565 0 0 0 0 0 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
2024/20251.780 6 29 24 24 326 157 265 133 269 304 144 99
2025/20266.043 232 199 335 411 634 4.232 0 0 0 0 0 0
Totale 13.756