IRIS
VALENTE, ENZA MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.554
AS - Asia 4.666
EU - Europa 3.668
SA - Sud America 550
AF - Africa 37
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 7
Totale 14.490
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Nazione #
US - Stati Uniti d'America 5.481
CN - Cina 2.990
IE - Irlanda 1.454
HK - Hong Kong 929
RU - Federazione Russa 724
SG - Singapore 513
BR - Brasile 488
FI - Finlandia 447
IT - Italia 402
DE - Germania 290
GB - Regno Unito 59
CA - Canada 54
AT - Austria 52
IN - India 51
VN - Vietnam 44
FR - Francia 41
SE - Svezia 33
NL - Olanda 32
UA - Ucraina 24
BE - Belgio 22
BD - Bangladesh 19
CZ - Repubblica Ceca 19
JP - Giappone 17
AR - Argentina 14
TR - Turchia 14
ES - Italia 13
IQ - Iraq 13
PK - Pakistan 11
CO - Colombia 10
MX - Messico 10
PL - Polonia 10
CL - Cile 9
UZ - Uzbekistan 9
PE - Perù 8
CH - Svizzera 7
EC - Ecuador 7
LV - Lettonia 7
ZA - Sudafrica 7
AU - Australia 6
EG - Egitto 6
MA - Marocco 6
VE - Venezuela 6
BG - Bulgaria 5
DZ - Algeria 5
EU - Europa 5
JO - Giordania 5
KE - Kenya 5
KG - Kirghizistan 5
AE - Emirati Arabi Uniti 4
AM - Armenia 4
LU - Lussemburgo 4
MU - Mauritius 4
PH - Filippine 4
DK - Danimarca 3
GR - Grecia 3
IR - Iran 3
KZ - Kazakistan 3
LA - Repubblica Popolare Democratica del Laos 3
LT - Lituania 3
RO - Romania 3
SK - Slovacchia (Repubblica Slovacca) 3
TN - Tunisia 3
UY - Uruguay 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BO - Bolivia 2
GE - Georgia 2
IL - Israele 2
KH - Cambogia 2
KR - Corea 2
LB - Libano 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PY - Paraguay 2
SA - Arabia Saudita 2
TJ - Tagikistan 2
AO - Angola 1
AZ - Azerbaigian 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
DO - Repubblica Dominicana 1
FK - Isole Falkland (Malvinas) 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
ID - Indonesia 1
JM - Giamaica 1
KW - Kuwait 1
MD - Moldavia 1
MT - Malta 1
NI - Nicaragua 1
NO - Norvegia 1
PA - Panama 1
PS - Palestinian Territory 1
PT - Portogallo 1
Totale 14.487
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Città #
Dublin 1.451
Chandler 1.080
Hong Kong 928
Nanjing 797
Ashburn 476
Boardman 460
Beijing 344
Jacksonville 342
Princeton 318
Lawrence 309
Nanchang 309
Medford 300
Wilmington 252
Changsha 236
Hebei 210
Shenyang 205
Singapore 200
Jiaxing 189
Helsinki 174
Tianjin 143
Shanghai 133
Hangzhou 111
Moscow 110
New York 92
Pavia 72
Milan 69
Munich 69
Nuremberg 58
Los Angeles 57
Norwalk 51
The Dalles 51
Ann Arbor 43
Turku 39
Fairfield 38
São Paulo 38
Seattle 37
Toronto 31
Zhengzhou 31
Woodbridge 30
Falkenstein 28
Rome 27
Orange 26
Dong Ket 24
Ningbo 24
Pune 23
Washington 23
Brussels 21
Vienna 20
Chicago 19
Dallas 19
Turin 17
Rio de Janeiro 16
Tokyo 16
Guangzhou 13
Olomouc 13
Düsseldorf 12
Hyderabad 12
Jinan 12
Piscataway 12
San Francisco 12
Belo Horizonte 11
Brooklyn 11
Montreal 11
Naples 11
Santa Clara 11
Taizhou 11
Brasília 9
Fuzhou 9
Redwood City 9
Springfield 9
Warsaw 9
Bologna 8
Contagem 8
Frankfurt am Main 8
Novara 8
Robbiate 8
Tashkent 8
Amsterdam 7
Charlotte 7
London 7
Prineville 7
Santiago 7
Atlanta 6
Curitiba 6
Des Moines 6
Detroit 6
Dhaka 6
Ho Chi Minh City 6
Houston 6
Manchester 6
Porto Alegre 6
Shijiazhuang 6
Stockholm 6
Berlin 5
Brno 5
Cremona 5
Falls Church 5
Hanoi 5
Istanbul 5
João Pessoa 5
Totale 10.567
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Nome #
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 109
Guidelines for the use and interpretation of assays for monitoring autophagy 107
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 95
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 77
Altered PLP1 splicing causes hypomyelination of early myelinating structures 74
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) 73
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 71
RFC1 expansions are a common cause of idiopathic sensory neuropathy 70
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 69
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT 69
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 69
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 66
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 66
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 66
CASK related disorder: Epilepsy and developmental outcome 66
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 65
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 65
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 65
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 65
A family study on primary blepharospasm 64
DYT2 screening in early-onset isolated dystonia in Italy 64
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 64
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 64
A novel genetic prediction score in myoclonus-dystonia 63
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 63
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 63
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 63
DYT2 screening in early-onset isolated dystonia 62
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 61
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 61
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 61
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 61
A molecular classification of Joubert syndrome 61
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 61
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 61
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 61
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 61
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 60
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 60
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 59
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 59
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 59
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 59
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 58
Genetic issues in the diagnosis of dystonias 58
"Gluing" phenotypes together The case of GLUT1 58
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 57
A novel IRF2BPL truncating variant is associated with endolysosomal storage 57
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 56
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 56
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 56
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 56
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 55
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 55
The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm 55
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 54
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 53
PRRT2 gene mutations in a large family with paroxysmal kinesigenic dyskinesia and co-segregation with migraine with aura 53
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 53
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice 52
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 52
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 52
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 52
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 51
PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. 51
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 51
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 50
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage 50
Investigating the SGCE gene in myoclonic syndromes: Guidelines for diagnostic testing 50
A novel family with an unusual early-onset generalized dystonia 50
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype 50
Evaluation of the genetic contribution of Omi/HtrA2 to Parkinson's disease in an international collaborative study 50
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 50
Motile and non-motile cilia in human pathology: from function to phenotypes 50
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 50
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 50
Diagnostic yield and cost-effectiveness of “dynamic” exome analysis in epilepsy with neurodevelopmental disorders: A tertiary-center experience in Northern Italy 50
Advances in genetics of movement disorders 49
Dystonia 49
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 49
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 48
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations 48
Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine 48
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 48
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 48
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 48
A clinical‐based diagnostic approach to cerebellar atrophy in children 48
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 48
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone 47
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 47
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report 47
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 47
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium 47
Age and sex prevalence estimate of Joubert syndrome in Italy 47
PINK1 and Parkin: the odd couple 47
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum 47
Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis 46
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 46
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 46
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles 46
Totale 5.774
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Categoria #
all - tutte 89.399
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 89.399
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205 0 0 0 0 0 0 0 0 0 0 0 5
2020/2021339 11 3 0 4 14 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
2024/20254.726 95 458 94 113 88 200 265 281 1.266 261 458 1.147
Totale 15.103