IRIS
VALENTE, ENZA MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 4.608
AS - Asia 2.836
EU - Europa 2.392
Continente sconosciuto - Info sul continente non disponibili 7
SA - Sud America 7
AF - Africa 5
OC - Oceania 5
Totale 9.860
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Nazione #
US - Stati Uniti d'America 4.579
CN - Cina 2.729
IE - Irlanda 1.450
FI - Finlandia 381
IT - Italia 262
DE - Germania 120
SG - Singapore 34
CA - Canada 29
IN - India 28
FR - Francia 27
SE - Svezia 27
GB - Regno Unito 25
VN - Vietnam 24
BE - Belgio 22
UA - Ucraina 21
CZ - Repubblica Ceca 14
JP - Giappone 13
RU - Federazione Russa 13
ES - Italia 6
BR - Brasile 5
CH - Svizzera 5
EU - Europa 5
AU - Australia 4
MU - Mauritius 4
NL - Olanda 4
AT - Austria 3
DK - Danimarca 3
LV - Lettonia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
IL - Israele 2
IR - Iran 2
MY - Malesia 2
RO - Romania 2
TR - Turchia 2
AR - Argentina 1
BY - Bielorussia 1
FK - Isole Falkland (Malvinas) 1
GR - Grecia 1
MD - Moldavia 1
NZ - Nuova Zelanda 1
SK - Slovacchia (Repubblica Slovacca) 1
ZA - Sudafrica 1
Totale 9.860
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Città #
Dublin 1.447
Chandler 1.080
Nanjing 797
Ashburn 454
Jacksonville 342
Princeton 318
Lawrence 309
Nanchang 309
Medford 300
Wilmington 252
Changsha 234
Hebei 210
Shenyang 205
Jiaxing 189
Beijing 165
Helsinki 147
Tianjin 142
Shanghai 127
Hangzhou 111
New York 80
Boardman 66
Pavia 52
Norwalk 51
Ann Arbor 43
Milan 43
Fairfield 38
Seattle 34
Woodbridge 30
Zhengzhou 27
Orange 26
Dong Ket 24
Ningbo 24
Singapore 24
Pune 23
Washington 23
Toronto 22
Brussels 21
Los Angeles 19
Munich 13
Tokyo 13
Chicago 12
Piscataway 12
Turin 12
Jinan 11
Rome 11
Taizhou 11
Guangzhou 9
Olomouc 9
Redwood City 9
Fuzhou 8
Robbiate 8
Naples 7
Detroit 6
Houston 6
Shijiazhuang 6
Berlin 5
Brno 5
Cremona 5
Des Moines 5
Falls Church 5
Las Vegas 5
Sarnico 5
Gandía 4
Menlo Park 4
Piombino 4
San Francisco 4
Shenzhen 4
Sydney 4
Torino 4
Verolanuova 4
Borås 3
Brescia 3
Dearborn 3
Harbin 3
Innsbruck 3
Nuremberg 3
Paris 3
Vejle 3
Zurich 3
Aberdeen 2
Auburn Hills 2
Azzano San Paolo 2
Baoding 2
Barnsley 2
Bucharest 2
Cecina 2
Chieti 2
Chongqing 2
Fremont 2
Handan 2
Hefei 2
Hengshui 2
Hyderabad 2
Istanbul 2
Kemerovo 2
Montreal 2
Novara 2
Osio Sotto 2
Parma 2
Pescara 2
Totale 8.107
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy 91
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 84
DYT2 screening in early-onset isolated dystonia in Italy 53
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT 53
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 52
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 51
DYT2 screening in early-onset isolated dystonia 50
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 49
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 49
Genetic issues in the diagnosis of dystonias 47
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 47
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 47
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 47
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 47
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 47
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) 46
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 46
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 46
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 46
RFC1 expansions are a common cause of idiopathic sensory neuropathy 46
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 45
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 45
The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm 45
CASK related disorder: Epilepsy and developmental outcome 45
Altered PLP1 splicing causes hypomyelination of early myelinating structures 45
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 44
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 44
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 44
PRRT2 gene mutations in a large family with paroxysmal kinesigenic dyskinesia and co-segregation with migraine with aura 44
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 44
A novel genetic prediction score in myoclonus-dystonia 43
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 43
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 43
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 43
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 43
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 42
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 42
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 42
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 42
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 42
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 42
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 41
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 41
Evaluation of the genetic contribution of Omi/HtrA2 to Parkinson's disease in an international collaborative study 41
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 41
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 41
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 41
Advances in genetics of movement disorders 40
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 40
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus dystonia: Evidence for genetic heterogeneity 40
A molecular classification of Joubert syndrome 40
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 40
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 40
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 40
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 39
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 39
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 39
Motile and non-motile cilia in human pathology: from function to phenotypes 39
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 39
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 39
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum 39
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 39
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 39
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 39
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage 38
Investigating the SGCE gene in myoclonic syndromes: Guidelines for diagnostic testing 38
"Gluing" phenotypes together The case of GLUT1 38
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype 38
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 38
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 38
EARLY-ONSET HEAD TITUBATION IN A CHILD WITH PORETTI-BOLTSHAUSER SYNDROME 38
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 38
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 37
A family study on primary blepharospasm 37
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration 37
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 37
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 37
Clinical and subclinical dopaminergic dysfunction in autosomal recessive PARK6-linked parkinsonism: An F-18-dopa PET study 37
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 37
Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine 37
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 37
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 37
PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. 37
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 37
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 37
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 36
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice 36
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone 36
Olfactory function in parkinsonism caused by PINK1 mutations 36
Infantile neuroaxonal dystrophy in 14 Tunisian children 36
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 36
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report 36
Clinical genetics of primary blepharospasm 36
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 36
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 35
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 35
Olfactory function in parkinsonism caused by PINK1 mutations 35
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 35
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study 35
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 35
Totale 4.191
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Categoria #
all - tutte 56.283
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 56.283
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.541 969 1.364 3 11 7 5 3 25 6 77 66 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
2024/202570 70 0 0 0 0 0 0 0 0 0 0 0
Totale 10.447