IRIS
VALENTE, ENZA MARIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 11.213
AS - Asia 10.229
EU - Europa 5.137
SA - Sud America 2.323
Continente sconosciuto - Info sul continente non disponibili 664
AF - Africa 382
OC - Oceania 17
AN - Antartide 1
Totale 29.966
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 10.850
CN - Cina 4.331
SG - Singapore 2.227
BR - Brasile 1.784
IE - Irlanda 1.465
VN - Vietnam 1.319
HK - Hong Kong 1.128
IT - Italia 835
RU - Federazione Russa 762
FI - Finlandia 470
FR - Francia 451
DE - Germania 417
BD - Bangladesh 261
IN - India 232
GB - Regno Unito 209
AR - Argentina 189
ZA - Sudafrica 182
CA - Canada 149
ID - Indonesia 114
MX - Messico 114
IQ - Iraq 103
EC - Ecuador 97
JP - Giappone 72
CO - Colombia 68
PK - Pakistan 67
NL - Olanda 64
AT - Austria 63
TR - Turchia 63
SE - Svezia 59
ES - Italia 55
PL - Polonia 55
CL - Cile 51
UA - Ucraina 47
VE - Venezuela 41
MA - Marocco 40
PH - Filippine 38
EG - Egitto 34
MY - Malesia 29
KE - Kenya 28
PE - Perù 28
BE - Belgio 27
PY - Paraguay 27
TN - Tunisia 26
CR - Costa Rica 25
CZ - Repubblica Ceca 22
SA - Arabia Saudita 22
UZ - Uzbekistan 22
DZ - Algeria 21
NP - Nepal 21
JO - Giordania 19
UY - Uruguay 17
AE - Emirati Arabi Uniti 15
JM - Giamaica 15
PT - Portogallo 14
BO - Bolivia 13
ET - Etiopia 13
LT - Lituania 13
CH - Svizzera 12
KZ - Kazakistan 12
AU - Australia 11
AZ - Azerbaigian 11
LV - Lettonia 11
RO - Romania 11
TH - Thailandia 11
IL - Israele 10
IR - Iran 10
KG - Kirghizistan 10
KR - Corea 10
BG - Bulgaria 9
NI - Nicaragua 9
DO - Repubblica Dominicana 8
SV - El Salvador 8
AM - Armenia 7
BH - Bahrain 7
GR - Grecia 7
HN - Honduras 7
KH - Cambogia 7
RS - Serbia 7
DK - Danimarca 6
GT - Guatemala 6
OM - Oman 6
AL - Albania 5
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
BA - Bosnia-Erzegovina 4
BW - Botswana 4
CI - Costa d'Avorio 4
EE - Estonia 4
KW - Kuwait 4
LB - Libano 4
LU - Lussemburgo 4
MD - Moldavia 4
Totale 29.223
Salva come PNG Salva come JPEG
Città #
Dublin 1.458
San Jose 1.196
Hong Kong 1.107
Ashburn 1.103
Chandler 1.080
Singapore 1.006
Dallas 816
Nanjing 802
Beijing 577
Council Bluffs 539
Ho Chi Minh City 473
Boardman 465
Lauterbourg 353
Jacksonville 346
Princeton 318
Lawrence 309
Nanchang 309
Los Angeles 305
Medford 301
Hanoi 298
Wilmington 252
Changsha 250
New York 216
Hebei 210
Shenyang 210
Redondo Beach 201
Jiaxing 190
Helsinki 185
São Paulo 168
Buffalo 158
Tianjin 149
Shanghai 148
Milan 146
Johannesburg 136
Santa Clara 130
Munich 129
Hangzhou 125
Moscow 114
Pavia 84
Nuremberg 74
Columbus 71
Tokyo 69
Orem 66
Rome 66
Da Nang 56
Chicago 55
Haiphong 55
Norwalk 53
Frankfurt am Main 52
The Dalles 52
Turku 50
Rio de Janeiro 49
Toronto 47
Montreal 46
Warsaw 46
Chennai 44
Ann Arbor 43
Guangzhou 43
Mexico City 43
Baghdad 42
Brooklyn 42
Seattle 42
Zhengzhou 42
Belo Horizonte 40
Fairfield 38
Denver 37
Atlanta 34
London 34
Phoenix 34
Guayaquil 33
Biên Hòa 32
Stockholm 32
Turin 32
Woodbridge 31
Quito 30
San Francisco 30
Santiago 29
Falkenstein 28
Houston 28
Pune 28
Amsterdam 27
Ningbo 27
Orange 27
Thái Bình 27
Curitiba 26
Poplar 26
Vienna 26
Washington 26
Brasília 25
Brussels 25
Jakarta 25
Manchester 25
Dong Ket 24
Salvador 24
Boston 23
Nairobi 23
Dhaka 22
Porto Alegre 22
Bologna 21
Hải Dương 21
Totale 18.652
Salva come PNG Salva come JPEG
Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy 172
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 165
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 164
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies 152
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 151
RFC1 expansions are a common cause of idiopathic sensory neuropathy 140
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 137
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 137
Altered PLP1 splicing causes hypomyelination of early myelinating structures 132
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 126
CASK related disorder: Epilepsy and developmental outcome 125
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 124
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 122
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 121
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 120
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 118
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 117
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT 117
Clinical and molecular aspects of PINK1-related parkinsonism 116
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 115
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 115
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 115
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 114
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 113
A novel IRF2BPL truncating variant is associated with endolysosomal storage 113
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 112
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 1 112
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 112
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study 111
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 111
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease 110
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) 110
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 110
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 109
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 109
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 109
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 108
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 107
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 107
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 107
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 107
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 106
DYT2 screening in early-onset isolated dystonia 105
Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus? 104
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 104
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 103
A family study on primary blepharospasm 101
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 99
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 99
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 99
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 98
A molecular classification of Joubert syndrome 98
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 97
Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis 97
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 97
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 97
Age and sex prevalence estimate of Joubert syndrome in Italy 97
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 97
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 97
A novel genetic prediction score in myoclonus-dystonia 96
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 96
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 95
DYT2 screening in early-onset isolated dystonia in Italy 95
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 94
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 94
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 93
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 93
"Gluing" phenotypes together The case of GLUT1 93
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 92
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 92
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 92
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 92
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 92
Advances in genetics of movement disorders 91
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 91
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 91
A clinical‐based diagnostic approach to cerebellar atrophy in children 91
A novel family with an unusual early-onset generalized dystonia 90
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 89
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 89
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 88
Visual function in children with Joubert syndrome 88
PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. 88
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 87
A clinical diagnostic algorithm for early onset cerebellar ataxia 86
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 86
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 85
Motile and non-motile cilia in human pathology: from function to phenotypes 85
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 84
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders 84
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 84
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 84
Genotype-phenotype correlates in Joubert syndrome: A review 83
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 83
PINK1 and Parkin: the odd couple 83
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 83
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 83
Benign Hereditary Chorea as a Manifestation of HPCA Mutation 82
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 82
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum 81
Totale 10.417
Salva come PNG Salva come JPEG
Categoria #
all - tutte 149.351
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 149.351
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.180 0 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
2025/202613.567 826 1.050 1.862 2.195 1.415 450 2.033 631 1.218 862 583 442
2026/20271.242 449 793 0 0 0 0 0 0 0 0 0 0
Totale 29.966