VALENTE, ENZA MARIA
 Distribuzione geografica
Continente #
NA - Nord America 4.497
AS - Asia 2.648
EU - Europa 2.572
Continente sconosciuto - Info sul continente non disponibili 7
SA - Sud America 7
AF - Africa 5
OC - Oceania 3
Totale 9.739
Nazione #
US - Stati Uniti d'America 4.471
CN - Cina 2.589
IE - Irlanda 1.713
FI - Finlandia 376
IT - Italia 217
DE - Germania 113
BE - Belgio 48
IN - India 28
SE - Svezia 27
CA - Canada 26
VN - Vietnam 24
GB - Regno Unito 23
UA - Ucraina 21
RU - Federazione Russa 8
FR - Francia 6
BR - Brasile 5
ES - Italia 5
EU - Europa 5
MU - Mauritius 4
DK - Danimarca 3
LV - Lettonia 3
NL - Olanda 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AU - Australia 2
IL - Israele 2
IR - Iran 2
MY - Malesia 2
RO - Romania 2
AR - Argentina 1
CH - Svizzera 1
FK - Isole Falkland (Malvinas) 1
GR - Grecia 1
JP - Giappone 1
MD - Moldavia 1
NZ - Nuova Zelanda 1
SK - Slovacchia (Repubblica Slovacca) 1
ZA - Sudafrica 1
Totale 9.739
Città #
Dublin 1.710
Chandler 1.080
Nanjing 797
Ashburn 452
Jacksonville 342
Princeton 318
Lawrence 309
Nanchang 309
Medford 300
Wilmington 252
Changsha 228
Hebei 210
Shenyang 205
Jiaxing 188
Beijing 162
Helsinki 142
Tianjin 142
Hangzhou 110
Shanghai 97
New York 80
Norwalk 51
Pavia 48
Brussels 47
Ann Arbor 43
Fairfield 38
Seattle 34
Woodbridge 30
Milan 29
Orange 26
Zhengzhou 25
Dong Ket 24
Pune 23
Washington 23
Ningbo 22
Toronto 22
Jinan 11
Taizhou 11
Redwood City 9
Rome 9
Turin 9
Fuzhou 8
Munich 8
Robbiate 8
Detroit 6
Guangzhou 6
Houston 6
Berlin 5
Cremona 5
Des Moines 5
Falls Church 5
Naples 5
Sarnico 5
Chicago 4
Gandía 4
Las Vegas 4
Menlo Park 4
Piombino 4
Torino 4
Verolanuova 4
Borås 3
Brescia 3
Dearborn 3
Paris 3
San Francisco 3
Vejle 3
Aberdeen 2
Auburn Hills 2
Azzano San Paolo 2
Boardman 2
Bucharest 2
Cecina 2
Chieti 2
Fremont 2
Hyderabad 2
Kemerovo 2
Novara 2
Osio Sotto 2
Pescara 2
Piacenza 2
Rishon LeTsiyyon 2
Sacramento 2
Seelze 2
Sydney 2
Treviso 2
Verrua Po 2
Yakutsk 2
Almere Stad 1
Atlanta 1
Auburn 1
Auckland 1
Bereguardo 1
Bologna 1
Bratislava 1
Brierley Hill 1
Buffalo 1
Böblingen 1
Cambridge 1
Castelnuovo Di Porto 1
Centurion 1
Cesena 1
Totale 8.141
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 82
DYT2 screening in early-onset isolated dystonia in Italy 55
DYT2 screening in early-onset isolated dystonia 54
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 51
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 51
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 PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1 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
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 49
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 48
Genetic issues in the diagnosis of dystonias 47
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 47
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 46
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 46
Altered PLP1 splicing causes hypomyelination of early myelinating structures 46
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 46
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 45
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 45
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 45
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 45
The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm 45
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 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
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 44
CASK related disorder: Epilepsy and developmental outcome 44
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 43
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) 43
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 43
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 43
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 42
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 42
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 42
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 42
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 42
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 42
RFC1 expansions are a common cause of idiopathic sensory neuropathy 42
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration 41
A novel genetic prediction score in myoclonus-dystonia 41
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 41
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus dystonia: Evidence for genetic heterogeneity 41
Evaluation of the genetic contribution of Omi/HtrA2 to Parkinson's disease in an international collaborative study 41
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 41
Motile and non-motile cilia in human pathology: from function to phenotypes 41
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 41
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 41
Advances in genetics of movement disorders 40
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 40
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 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
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 40
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 39
Investigating the SGCE gene in myoclonic syndromes: Guidelines for diagnostic testing 39
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 39
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 39
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 39
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 39
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum 39
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 38
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage 38
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype 38
Clinical and subclinical dopaminergic dysfunction in autosomal recessive PARK6-linked parkinsonism: An F-18-dopa PET study 38
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 38
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 38
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 38
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 38
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 37
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report 37
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study 37
A molecular classification of Joubert syndrome 37
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 37
Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine 37
Clinical genetics of primary blepharospasm 37
PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. 37
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 37
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 37
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 36
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 36
A family study on primary blepharospasm 36
Olfactory function in parkinsonism caused by PINK1 mutations 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
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 36
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 36
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 36
PARK6-linked parkinsonism occurs in several European families 36
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 36
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 36
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 36
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 36
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 36
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 35
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 35
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 35
Phenotype variability of dystonia in monozygotic twins 35
Totale 4.178
Categoria #
all - tutte 46.221
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 46.221


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201949 0 0 0 0 0 0 0 0 6 12 5 26
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
2022/20233.836 460 184 28 239 260 331 10 180 1.954 29 110 51
2023/20241.328 161 244 63 86 169 423 111 63 8 0 0 0
Totale 10.293