IRIS
VALENTE, ENZA MARIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 7.962
AS - Asia 7.904
EU - Europa 4.181
SA - Sud America 1.995
AF - Africa 171
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 9
AN - Antartide 1
Totale 22.235
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 7.730
CN - Cina 3.886
SG - Singapore 1.703
BR - Brasile 1.626
IE - Irlanda 1.458
HK - Hong Kong 1.029
RU - Federazione Russa 751
VN - Vietnam 705
IT - Italia 511
FI - Finlandia 461
DE - Germania 362
GB - Regno Unito 167
AR - Argentina 142
CA - Canada 109
IN - India 106
MX - Messico 86
ID - Indonesia 83
BD - Bangladesh 73
EC - Ecuador 68
ZA - Sudafrica 64
FR - Francia 63
AT - Austria 61
SE - Svezia 55
JP - Giappone 51
IQ - Iraq 47
NL - Olanda 44
PL - Polonia 44
CO - Colombia 42
CL - Cile 36
TR - Turchia 36
UA - Ucraina 35
ES - Italia 34
BE - Belgio 25
PK - Pakistan 24
PE - Perù 21
CZ - Repubblica Ceca 20
PY - Paraguay 20
VE - Venezuela 20
MA - Marocco 19
EG - Egitto 18
KE - Kenya 17
UZ - Uzbekistan 14
DZ - Algeria 12
NP - Nepal 12
TN - Tunisia 12
JO - Giordania 11
SA - Arabia Saudita 11
UY - Uruguay 11
IR - Iran 10
LT - Lituania 10
CH - Svizzera 9
AE - Emirati Arabi Uniti 8
BG - Bulgaria 8
KR - Corea 8
KZ - Kazakistan 8
LV - Lettonia 8
AM - Armenia 7
AU - Australia 7
KG - Kirghizistan 7
PH - Filippine 7
RO - Romania 7
BH - Bahrain 6
DO - Repubblica Dominicana 6
BO - Bolivia 5
CR - Costa Rica 5
DK - Danimarca 5
EU - Europa 5
GE - Georgia 5
MY - Malesia 5
NI - Nicaragua 5
AL - Albania 4
AZ - Azerbaigian 4
GR - Grecia 4
IL - Israele 4
JM - Giamaica 4
KH - Cambogia 4
KW - Kuwait 4
LA - Repubblica Popolare Democratica del Laos 4
LU - Lussemburgo 4
MU - Mauritius 4
PA - Panama 4
PT - Portogallo 4
RS - Serbia 4
SK - Slovacchia (Repubblica Slovacca) 4
AO - Angola 3
BN - Brunei Darussalam 3
BW - Botswana 3
EE - Estonia 3
ET - Etiopia 3
LB - Libano 3
MN - Mongolia 3
TJ - Tagikistan 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BA - Bosnia-Erzegovina 2
CI - Costa d'Avorio 2
DM - Dominica 2
GT - Guatemala 2
HN - Honduras 2
HR - Croazia 2
MD - Moldavia 2
Totale 22.182
Salva come PNG Salva come JPEG
Città #
Dublin 1.452
Chandler 1.080
Hong Kong 1.028
Nanjing 800
Dallas 784
Ashburn 750
Singapore 664
Beijing 537
Boardman 461
Jacksonville 344
Princeton 318
Lawrence 309
Nanchang 309
Medford 300
Los Angeles 256
Wilmington 252
Changsha 250
Ho Chi Minh City 243
Hebei 210
Shenyang 209
Redondo Beach 201
Jiaxing 189
Helsinki 177
New York 156
Buffalo 149
Tianjin 149
São Paulo 147
Shanghai 144
Hanoi 143
Munich 129
Hangzhou 123
Moscow 112
Milan 81
Pavia 78
Nuremberg 66
Norwalk 51
The Dalles 51
Tokyo 50
Turku 50
Ann Arbor 43
Rio de Janeiro 43
Rome 42
Zhengzhou 42
Warsaw 41
Brooklyn 40
Johannesburg 40
Seattle 40
Montreal 39
Toronto 39
Belo Horizonte 38
Chicago 38
Fairfield 38
Santa Clara 37
Guangzhou 35
Haiphong 34
Denver 33
Chennai 31
Orem 31
Mexico City 30
Woodbridge 30
Falkenstein 28
Stockholm 28
Orange 27
Curitiba 26
Ningbo 26
Columbus 25
Poplar 25
Brasília 24
Brussels 24
Dong Ket 24
London 24
Pune 24
Vienna 24
Washington 24
Atlanta 23
Guayaquil 23
Phoenix 23
Porto Alegre 22
Salvador 22
Turin 22
San Francisco 21
Thái Bình 21
Biên Hòa 20
Boston 20
Santiago 20
Da Nang 19
Houston 19
Jinan 19
Manchester 19
Quito 19
Ribeirão Preto 19
Amsterdam 15
Detroit 15
Jakarta 15
Ninh Bình 15
Baghdad 14
Can Tho 14
Charlotte 14
Dhaka 14
Hyderabad 14
Totale 14.420
Salva come PNG Salva come JPEG
Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy 151
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 131
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 113
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 111
Altered PLP1 splicing causes hypomyelination of early myelinating structures 110
Clinical and molecular aspects of PINK1-related parkinsonism 107
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 101
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 100
RFC1 expansions are a common cause of idiopathic sensory neuropathy 99
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 99
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 95
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 95
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) 94
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 93
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT 93
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 93
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 93
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 93
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 92
DYT2 screening in early-onset isolated dystonia 91
CASK related disorder: Epilepsy and developmental outcome 91
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 90
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 90
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 89
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 89
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 89
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 88
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 88
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 88
A novel IRF2BPL truncating variant is associated with endolysosomal storage 88
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 87
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 87
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 86
A family study on primary blepharospasm 85
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 85
A molecular classification of Joubert syndrome 85
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 85
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 84
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 84
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 84
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 83
A novel genetic prediction score in myoclonus-dystonia 83
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 83
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 82
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 81
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 81
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 80
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 80
DYT2 screening in early-onset isolated dystonia in Italy 80
"Gluing" phenotypes together The case of GLUT1 80
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 80
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 79
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 79
Advances in genetics of movement disorders 78
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 78
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 78
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 78
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 77
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 77
A clinical‐based diagnostic approach to cerebellar atrophy in children 77
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders 76
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 76
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 75
Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis 74
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 74
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 74
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 74
Age and sex prevalence estimate of Joubert syndrome in Italy 74
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 74
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 73
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 72
A novel family with an unusual early-onset generalized dystonia 71
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 71
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 71
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 71
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 71
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 71
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 70
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 70
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 69
Double-peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 69
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 69
Genetic issues in the diagnosis of dystonias 68
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 68
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 68
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice 67
Transcriptional regulator PRDM12 is essential for human pain perception 67
Motile and non-motile cilia in human pathology: from function to phenotypes 67
A clinical diagnostic algorithm for early onset cerebellar ataxia 67
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 66
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease 66
Diffusion tensor imaging in Joubert syndrome 66
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus 66
Genetic testing for paediatric neurological disorders 66
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts 66
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 66
Visual function in children with Joubert syndrome 65
The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm 65
Genotype-phenotype correlates in Joubert syndrome: A review 64
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 64
Totale 8.171
Salva come PNG Salva come JPEG
Categoria #
all - tutte 121.068
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 121.068
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021307 0 0 0 0 0 33 3 185 36 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
2025/20267.700 826 1.050 1.862 2.195 1.415 352 0 0 0 0 0 0
Totale 22.857