CNR Institutional Research Information System

ZIZZO, CARMELA
 Distribuzione geografica
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Continente #
AS - Asia 1.202
NA - Nord America 1.086
EU - Europa 573
SA - Sud America 224
Continente sconosciuto - Info sul continente non disponibili 136
AF - Africa 23
OC - Oceania 3
Totale 3.247
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Nazione #
US - Stati Uniti d'America 1.019
SG - Singapore 442
CN - Cina 300
IT - Italia 253
BR - Brasile 175
VN - Vietnam 134
HK - Hong Kong 110
NL - Olanda 77
FR - Francia 71
BD - Bangladesh 65
GB - Regno Unito 50
DE - Germania 36
CA - Canada 33
KR - Corea 31
IN - India 26
FI - Finlandia 25
JP - Giappone 21
AR - Argentina 16
MX - Messico 11
PL - Polonia 11
TR - Turchia 11
EC - Ecuador 9
ES - Italia 9
ID - Indonesia 9
JM - Giamaica 8
IQ - Iraq 7
ZA - Sudafrica 7
PE - Perù 6
PH - Filippine 6
SA - Arabia Saudita 6
SE - Svezia 6
EG - Egitto 5
TN - Tunisia 5
CO - Colombia 4
CZ - Repubblica Ceca 4
GT - Guatemala 4
PK - Pakistan 4
PY - Paraguay 4
UA - Ucraina 4
AE - Emirati Arabi Uniti 3
AU - Australia 3
BO - Bolivia 3
DK - Danimarca 3
IL - Israele 3
LT - Lituania 3
NI - Nicaragua 3
RU - Federazione Russa 3
TH - Thailandia 3
UZ - Uzbekistan 3
VE - Venezuela 3
AT - Austria 2
AZ - Azerbaigian 2
BE - Belgio 2
CL - Cile 2
GR - Grecia 2
JO - Giordania 2
KZ - Kazakistan 2
LB - Libano 2
MA - Marocco 2
PR - Porto Rico 2
SK - Slovacchia (Repubblica Slovacca) 2
UY - Uruguay 2
AG - Antigua e Barbuda 1
AL - Albania 1
AM - Armenia 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CH - Svizzera 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
GD - Grenada 1
HN - Honduras 1
HU - Ungheria 1
IE - Irlanda 1
KE - Kenya 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
LS - Lesotho 1
LV - Lettonia 1
MM - Myanmar 1
MY - Malesia 1
NP - Nepal 1
PT - Portogallo 1
RO - Romania 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
TZ - Tanzania 1
Totale 3.111
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Città #
Singapore 272
Santa Clara 214
San Jose 167
Hong Kong 105
Ashburn 83
Hefei 80
Beijing 69
Los Angeles 67
Lauterbourg 46
Ho Chi Minh City 43
Hanoi 32
Seoul 31
Dallas 26
Rome 23
New York 19
São Paulo 19
Council Bluffs 18
Milan 18
Frankfurt am Main 16
Guangzhou 15
Tokyo 15
Lappeenranta 14
Buffalo 13
Orem 13
London 12
Atlanta 11
Helsinki 11
Naples 11
Düsseldorf 9
Houston 9
Padua 9
Florence 8
Da Nang 7
Hyderabad 7
Charlotte 6
Chicago 6
Haiphong 6
Montreal 6
Palermo 6
Rio de Janeiro 6
San Francisco 6
Toronto 6
Warsaw 6
Ankara 5
Bologna 5
Cairo 5
Chennai 5
Paris 5
Portsmouth 5
Stockholm 5
Bari 4
Bengaluru 4
Brasília 4
Brooklyn 4
Cagliari 4
Curitiba 4
Detroit 4
Guatemala City 4
Johannesburg 4
Lima 4
Minamishinagawa 4
Munich 4
Newark 4
Redondo Beach 4
Ribeirão Preto 4
The Bronx 4
Baghdad 3
Belo Horizonte 3
Biên Hòa 3
Blumenau 3
Boston 3
Campinas 3
Elk Grove Village 3
Erbil 3
Guayaquil 3
Hải Dương 3
Kingston 3
Madrid 3
Mexico City 3
Natal 3
Ottawa 3
Poplar 3
Queens 3
Quito 3
Riyadh 3
Spring 3
St Louis 3
Tashkent 3
Thái Nguyên 3
Turin 3
Vancouver 3
Venice 3
Wroclaw 3
Amman 2
Andria 2
Baku 2
Bangkok 2
Barnet 2
Belford Roxo 2
Bexley 2
Totale 1.760
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Nome #
Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease 116
miR-126-3p and miR-21-5p as Hallmarks of Bio-Positive Ageing; Correlation Analysis and Machine Learning Prediction in Young to Ultra-Centenarian Sicilian Population 107
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients 105
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease 103
Molecular and clinical studies in five index cases with novel mutations in the GLA gene. 88
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? 84
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report 84
Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease 83
The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study 82
Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease 78
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case 77
Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance 77
Pompe disease: pathogenesis, molecular genetics and diagnosis 77
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis 74
Identification of Novel Mutations in Patients Affected by Gaucher Disease 74
A novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema 72
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion 72
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study 70
Novel Pathogenic Variant of Fabry Disease in a Family with Parapelvic Cysts 69
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area 68
Calnexin is down-regulated in Fabry disease. A possible implication in protein misfolding 67
Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency 65
De novo mutation in a male patient with Fabry disease: a case report 63
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease 61
European Biotech week 60
Up-regulation of gamma-enolase in PMC from Fabry patients 59
A pilot study of circulating microRNAs as potential biomarkers of Fabry disease 58
Misdiagnosi di Febbre Mediterranea Familiare in pazienti con Malattia di Anderson-Fabry 57
Fabry disease, a complex pathology not easy to diagnose 57
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. 55
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings 52
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs. 49
High variability of fabry disease manifestations in an extended italian family 47
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders 46
Analysis of mutations in the GLA and MEFV genes might determines a genetic variant of Fabry diseases 46
Fabry disease: a proteomic approach 45
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease 44
VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies 43
Proteomic approach in Fabry disease: a case report 43
Novel alpha-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease 42
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease 42
Parapelvic cysts, a distinguishing feature of renal Fabry disease. 42
Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations 42
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease 41
Genetic screening of Fabry patients with EcoTILLING and HRM technology 41
Alterazioni introniche in soggetti con sintomatologia riconducibile alla malattia di Fabry 41
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene 40
null 40
Response to Simsek et al. 34
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema. 31
Genetic screening of Fabry patients with EcoTILLING and HRM technology. 30
Identification of a novel mutation in patients with hereditary angioedema 25
Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies 16
Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The “Ichnos” Project 15
Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms 11
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. 10
The NF-κB Isoform p65 iso5 Is Associated with Distinct Transcriptional Programs and Signaling Pathways 9
Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease 7
Prevalence of type I Gaucher disease in patients with smoldering or multiple myeloma: Results from the prospective, observational CHAGAL study 6
Distinctive cognitive phenotypes in Parkinson's disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study 5
Totale 3.247
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Categoria #
all - tutte 10.468
article - articoli 9.035
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 19.503
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202421 0 0 0 0 0 0 0 0 5 0 15 1
2024/20251.118 54 6 76 21 203 57 4 107 88 102 227 173
2025/20261.747 79 121 130 236 311 99 202 59 103 169 163 75
2026/2027361 113 61 187 0 0 0 0 0 0 0 0 0
Totale 3.247