IRIS
SAMPAOLO, Simone
 Distribuzione geografica
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Continente #
EU - Europa 7.649
NA - Nord America 3.798
AS - Asia 2.819
SA - Sud America 492
Continente sconosciuto - Info sul continente non disponibili 186
AF - Africa 43
OC - Oceania 5
Totale 14.992
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Nazione #
RU - Federazione Russa 4.563
US - Stati Uniti d'America 3.745
SG - Singapore 1.053
IE - Irlanda 897
IT - Italia 721
CN - Cina 630
HK - Hong Kong 471
UA - Ucraina 430
BR - Brasile 397
GB - Regno Unito 337
VN - Vietnam 293
DE - Germania 215
FI - Finlandia 116
TR - Turchia 113
SE - Svezia 100
FR - Francia 95
KR - Corea 90
GR - Grecia 78
IN - India 52
AR - Argentina 36
JP - Giappone 24
CA - Canada 23
BD - Bangladesh 21
EC - Ecuador 18
ID - Indonesia 18
BE - Belgio 17
ES - Italia 13
NL - Olanda 13
AT - Austria 12
CO - Colombia 12
IQ - Iraq 12
MX - Messico 12
ZA - Sudafrica 11
CL - Cile 8
MA - Marocco 8
UZ - Uzbekistan 8
IR - Iran 6
PE - Perù 6
PL - Polonia 6
BG - Bulgaria 5
CH - Svizzera 5
KE - Kenya 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
SV - El Salvador 4
TT - Trinidad e Tobago 4
AL - Albania 3
AO - Angola 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
EG - Egitto 3
LT - Lituania 3
TH - Thailandia 3
BA - Bosnia-Erzegovina 2
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
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TN - Tunisia 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AZ - Azerbaigian 1
BB - Barbados 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
PR - Porto Rico 1
SR - Suriname 1
Totale 14.808
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Città #
Moscow 1.609
Dublin 895
Jacksonville 657
Hong Kong 464
Singapore 417
Santa Clara 399
San Jose 333
Chandler 314
Ashburn 272
Princeton 130
Beijing 115
Ho Chi Minh City 106
Roxbury 99
Medford 93
Ann Arbor 86
Seoul 83
Caserta 70
Hanoi 60
Hefei 60
Wilmington 56
The Dalles 55
Boardman 53
New York 52
Woodbridge 49
Dallas 44
Orange 44
Cambridge 39
Naples 39
Nanjing 36
San Mateo 36
Rome 31
Bremen 30
Des Moines 30
Bengaluru 29
Napoli 25
São Paulo 24
Los Angeles 23
Mountain View 23
Dearborn 22
Milan 22
Düsseldorf 20
Kunming 19
Dong Ket 16
Nanchang 16
Atlanta 14
Brussels 14
Norwalk 14
Shanghai 14
Bologna 13
Da Nang 13
Munich 12
Guangzhou 11
Marcianise 11
Chicago 10
Jinan 10
Nuremberg 10
Otranto 10
Council Bluffs 9
Frankfurt am Main 9
Orem 9
Stockholm 9
Toronto 9
Amsterdam 8
Barano D'ischia 8
Belo Horizonte 8
Brasília 8
Brooklyn 8
Haiphong 8
Hải Dương 8
London 8
Redwood City 8
Tashkent 8
Tianjin 8
Catania 7
Changsha 7
Florence 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
Johannesburg 6
Mexico City 6
Ninh Bình 6
Salerno 6
San Francisco 6
Tokyo 6
Torino 6
Vienna 6
Biên Hòa 5
Chennai 5
Chongqing 5
Curitiba 5
Totale 7.554
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Nome #
Le iperCKemie familiari 385
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 206
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients 203
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 170
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 166
Sistema nervoso centrale 165
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 164
Identification and characterization of a novel member of the dystrobrevin gene family 161
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 161
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 161
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease 155
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 155
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients 155
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 155
Adult polyglucosan body disease; novel homozygous missense mutation in the glycogen-branching enzyme gene in an italian patient. 154
Large cardio-embolic ischemic stroke in Kearns-Sayre syndrome 151
A coding variant in GRIN3A gene is associated with migraine in italian population. 151
Adult-onset brain tumors and neurodegeneration: Are polyphenols protective? 151
A Novel Missense Mutation in CAV3 Gene in an Italian Family With Persistent hyperCKemia, Myalgia and Hypercholesterolemia: Double-trouble 151
Biochemical and morphological evidences supporting the hypothesis of a role of Tgase in the pathogeneisi of Chorea-Acanthocytosis 150
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes 148
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease 146
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies 145
Symptomatic heterozygosity due to definite GAA mutation in late onset Pompe disease 144
Altered glial fibrillary acidic protein immunoreactivity in rat brain following chronic hypoxia 143
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 141
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 141
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) 203-205 140
Biochemical and morphological evidences supporting the hypothesis of a role of TGase in the pathogenesis of chorea acanthocytosis (C-A) 140
Neuro-Behçet’s Disease presenting as an isolated progressive cognitive and behavioral syndrome 140
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 138
A large kindred with Paramyotonia Congenita 134
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families 133
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds. 129
A promoter deletion at the dystrophin gene in a severe muscular Duchenne-like phenotype 127
[Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia] 125
Associazione di distrofia muscolare congenita e malformazioni oculo-cerebrali : presentazione di un caso 125
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. 122
Long-term effects of asymmetrical posture in boxing assessed by baropodometry 121
Symptomatic heterozygosity due to definite GAA mutations in late onset Pompe disease 120
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 119
Trattamento precoce del dolore emicranico e della allodinia cutanea con rizatriptan 10 mg RPD 118
Autonomic neuropathy in mixed cryoglobulinemia 118
Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease 116
Histological, histochemical and biochemical analysis in Kearns-Sayre syndrome: a case report 116
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 116
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 116
Familial amyloidotic polyneuropathy: description of an Italian kindred 115
Hiatal hernia recurrence: surgical complication or disease? Electron microscope findings of the diaphragmatic pillars 114
Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy 113
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 113
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" 112
Prostaglandin Synthesis Is Involved In The Induction Of MyoD Expression 112
Hemicorea-hemiballismus in a patient with non-ketotic hyperglicaemia mimicking basal ganglia hemorrage: a case report 112
Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas - CT and MRI aspects: Report of two new cases and literature review 112
Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease 110
Genotype-phenotype correlation analysis in a large italian family with late-onset glycogenosis II. 110
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 108
Novel autophagic vacuolar myopathies: phenotype and genotype features 106
Klinische Neuropathologie 105
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease 104
Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship 103
Cerebral vascular anomalies in a large italian family with late-onset glycogenosis II. 102
Peripheral nervous system involvement in Klippel-Trenaunay syndrome 101
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) 101
Peripheral neuropathy in hepatitis-related mixed cryoglobulinemia: electrophysiologic follow-up study 100
Blood-brain barrier permeability to micromolecules and edema formation in the early phase of incomplete continuous ischemia 99
Rasagiline for sleep disorders in patients with Parkinson’s disease: A prospective observational study 99
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging 99
Short and long term effects of Nabiximols on balance and walking assessed by 3D-gait analysis in people with Multiple Sclerosis and spasticity 99
Semeiotica strumentale: indagini morfologiche 98
Pheripheral nervous system involvement in Klippel-Trenaunay syndrome 98
Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene 98
Paramedian hourglass epidermoid extending above and below the tentorium 97
Disease phenotype and genetic profile of a large italian family with late-onset glycogenosis II 97
Pompe disease: clinical, diagnostic and genetic aspects. Introductory notes to Pompe disease and aims of the Meeting. 96
Successful long-term therapy with flecainide in a family with paramyotonia congenita 95
Pheripheral neuropathy in Hepatitis C virus infected patients with and without mixed cryoglobulinemia 95
Distrophin immunoreactivity in a case of cytoplasmic body myopathy with fatal respiratory failure 95
First study on the peptidergic innervation of the brain superior sagittal sinus in humans. 95
Morphometrical evaluation of triflusal in brain infarction 94
Tumori del sistema nervoso 94
Nonhereditary amyloidosis presenting with a syringomyelia-like syndrome 94
Molecular basis and clinical manegement of Pompe disease 94
The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases 94
Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle 93
Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS 91
Evidence for additive effect of variants in GRIA1 and GRIA3 genes on migrain predisposition 91
Infections of the Central Nervous System 91
Interessamento del sistema nervoso periferico in pazienti con crioglobulinemia mista HCV-correlata. Studio di 133 pazienti 91
Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy 90
Hyperckemia in the neuroacanthocytosis: possible tissutal transglutaminase abnormality in skeletal muscle 90
Tuberculous Meningitis with atypical presentation. A case report 90
Churg-Strauss Syndrome: a clinical, electrophysiological and neuropathological study of 3 cases 90
Genetic linkage and gene mutation analysis in an italian family with paramyotonia congenita 90
Lack of sodium channel mutation in an Italian family with paramyotonia congenita 89
Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors. 89
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son 89
Congenital fibre type disproportion and non-compaction cardiomyopathy associated with insulin resistance 89
Pathological changes in organs of rats chronically exposed to hypoxia. Development of pulmonary lipidosis 88
Totale 12.225
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Categoria #
all - tutte 53.465
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 53.465
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022824 0 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
2025/20267.116 232 199 335 411 634 4.253 350 172 276 139 73 42
2026/2027163 50 113 0 0 0 0 0 0 0 0 0 0
Totale 14.992