IRIS
VALENTE, ENZA MARIA
 Distribuzione geografica
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Continente #
AS - Asia 9.934
NA - Nord America 9.506
EU - Europa 4.827
SA - Sud America 2.291
AF - Africa 381
OC - Oceania 17
Continente sconosciuto - Info sul continente non disponibili 11
AN - Antartide 1
Totale 26.968
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Nazione #
US - Stati Uniti d'America 9.218
CN - Cina 4.264
SG - Singapore 2.152
BR - Brasile 1.768
IE - Irlanda 1.464
VN - Vietnam 1.312
HK - Hong Kong 1.115
RU - Federazione Russa 762
IT - Italia 561
FI - Finlandia 468
FR - Francia 445
DE - Germania 415
IN - India 232
GB - Regno Unito 209
AR - Argentina 183
ZA - Sudafrica 182
BD - Bangladesh 137
CA - Canada 121
ID - Indonesia 113
MX - Messico 109
IQ - Iraq 103
EC - Ecuador 95
JP - Giappone 72
CO - Colombia 66
PK - Pakistan 66
AT - Austria 63
TR - Turchia 63
NL - Olanda 57
SE - Svezia 57
PL - Polonia 53
CL - Cile 50
ES - Italia 48
UA - Ucraina 47
MA - Marocco 40
VE - Venezuela 40
PH - Filippine 36
EG - Egitto 34
KE - Kenya 28
MY - Malesia 28
BE - Belgio 27
PY - Paraguay 27
PE - Perù 26
TN - Tunisia 25
CZ - Repubblica Ceca 22
UZ - Uzbekistan 22
DZ - Algeria 21
NP - Nepal 21
SA - Arabia Saudita 21
JO - Giordania 19
UY - Uruguay 16
AE - Emirati Arabi Uniti 14
BO - Bolivia 13
ET - Etiopia 13
CH - Svizzera 12
CR - Costa Rica 12
KZ - Kazakistan 12
LT - Lituania 12
AU - Australia 11
AZ - Azerbaigian 11
LV - Lettonia 11
PT - Portogallo 11
TH - Thailandia 11
IL - Israele 10
IR - Iran 10
KG - Kirghizistan 10
RO - Romania 10
BG - Bulgaria 9
JM - Giamaica 9
DO - Repubblica Dominicana 8
KR - Corea 8
AM - Armenia 7
BH - Bahrain 7
GR - Grecia 7
KH - Cambogia 7
RS - Serbia 7
DK - Danimarca 6
NI - Nicaragua 6
OM - Oman 6
EU - Europa 5
GE - Georgia 5
HU - Ungheria 5
LA - Repubblica Popolare Democratica del Laos 5
MU - Mauritius 5
PA - Panama 5
PS - Palestinian Territory 5
SI - Slovenia 5
SN - Senegal 5
SR - Suriname 5
AL - Albania 4
BW - Botswana 4
CI - Costa d'Avorio 4
EE - Estonia 4
HN - Honduras 4
KW - Kuwait 4
LB - Libano 4
LU - Lussemburgo 4
MD - Moldavia 4
MT - Malta 4
NG - Nigeria 4
QA - Qatar 4
Totale 26.891
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Città #
Dublin 1.458
Hong Kong 1.096
Chandler 1.080
Singapore 974
Ashburn 970
San Jose 932
Nanjing 801
Dallas 789
Beijing 561
Ho Chi Minh City 469
Boardman 461
Lauterbourg 353
Jacksonville 344
Princeton 318
Lawrence 309
Nanchang 309
Medford 300
Hanoi 298
Los Angeles 284
Wilmington 252
Changsha 250
Hebei 210
Shenyang 210
Redondo Beach 201
Jiaxing 190
Helsinki 184
New York 170
São Paulo 166
Buffalo 152
Tianjin 149
Shanghai 147
Johannesburg 136
Munich 129
Hangzhou 124
Moscow 114
Milan 95
Pavia 78
Nuremberg 74
Tokyo 69
Santa Clara 67
Orem 63
Da Nang 56
Haiphong 54
Frankfurt am Main 52
Norwalk 51
The Dalles 51
Turku 50
Chicago 49
Rio de Janeiro 48
Warsaw 46
Chennai 44
Ann Arbor 43
Guangzhou 43
Rome 43
Baghdad 42
Montreal 42
Toronto 42
Zhengzhou 42
Brooklyn 40
Seattle 40
Belo Horizonte 39
Fairfield 38
Mexico City 38
London 34
Denver 33
Atlanta 32
Biên Hòa 32
Guayaquil 32
Stockholm 30
Woodbridge 30
Quito 29
Santiago 29
Falkenstein 28
Pune 28
Amsterdam 27
Ningbo 27
Orange 27
Thái Bình 27
Columbus 26
Curitiba 26
Poplar 26
Vienna 26
Brasília 25
Brussels 25
Jakarta 25
Dong Ket 24
Manchester 24
Phoenix 24
Washington 24
Council Bluffs 23
Nairobi 23
Salvador 23
Turin 23
Porto Alegre 22
San Francisco 22
Hải Dương 21
Boston 20
Dhaka 20
Houston 20
Hyderabad 20
Totale 17.286
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy 165
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 157
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 131
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 129
RFC1 expansions are a common cause of idiopathic sensory neuropathy 129
Altered PLP1 splicing causes hypomyelination of early myelinating structures 127
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 118
CASK related disorder: Epilepsy and developmental outcome 118
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 116
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 115
Clinical and molecular aspects of PINK1-related parkinsonism 115
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT 113
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 113
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 112
A novel IRF2BPL truncating variant is associated with endolysosomal storage 112
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 111
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 111
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 111
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene 110
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 109
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 108
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene 108
A novel mutation in the endosomal Na plus /H plus exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) 107
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 107
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 106
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 105
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 105
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 104
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1 104
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 103
DYT2 screening in early-onset isolated dystonia 103
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 103
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 102
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 102
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol 101
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 101
A family study on primary blepharospasm 100
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 100
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 99
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 98
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 98
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 97
A molecular classification of Joubert syndrome 95
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 94
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 94
A novel genetic prediction score in myoclonus-dystonia 93
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 93
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 93
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 93
Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis 92
DYT2 screening in early-onset isolated dystonia in Italy 92
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1 92
Age and sex prevalence estimate of Joubert syndrome in Italy 92
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 92
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 91
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 91
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 91
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 90
"Gluing" phenotypes together The case of GLUT1 90
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 90
Advances in genetics of movement disorders 89
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 89
A clinical‐based diagnostic approach to cerebellar atrophy in children 89
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 88
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 88
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 88
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 88
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 87
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 87
A novel family with an unusual early-onset generalized dystonia 87
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 86
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 85
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease 85
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 85
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 85
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 84
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 82
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 82
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 82
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 82
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 82
Visual function in children with Joubert syndrome 80
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 80
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders 80
PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. 79
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 79
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 79
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 78
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 78
Motile and non-motile cilia in human pathology: from function to phenotypes 78
A clinical diagnostic algorithm for early onset cerebellar ataxia 78
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 77
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants 77
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus 77
Genotype-phenotype correlates in Joubert syndrome: A review 76
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice 76
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 76
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 76
Benign Hereditary Chorea as a Manifestation of HPCA Mutation 75
Totale 9.617
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Categoria #
all - tutte 129.644
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 129.644
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202150 0 0 0 0 0 0 0 0 0 13 8 29
2021/20221.184 4 10 20 3 11 24 20 94 64 10 206 718
2022/20233.558 460 184 28 239 260 331 8 178 1.692 21 107 50
2023/20241.690 159 242 61 81 155 423 111 63 13 39 214 129
2024/20254.780 95 458 94 113 88 200 265 281 1.266 261 458 1.201
2025/202612.437 826 1.050 1.862 2.195 1.415 450 2.033 631 1.218 757 0 0
Totale 27.594