IRIS
VALENTE, ENZA MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.103
AS - Asia 3.160
EU - Europa 2.494
SA - Sud America 30
Continente sconosciuto - Info sul continente non disponibili 7
AF - Africa 6
OC - Oceania 5
Totale 10.805
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Nazione #
US - Stati Uniti d'America 5.062
CN - Cina 2.804
IE - Irlanda 1.452
FI - Finlandia 405
IT - Italia 302
SG - Singapore 269
DE - Germania 135
CA - Canada 39
GB - Regno Unito 33
IN - India 28
FR - Francia 27
SE - Svezia 27
VN - Vietnam 24
BE - Belgio 22
UA - Ucraina 21
BR - Brasile 16
CZ - Repubblica Ceca 14
JP - Giappone 14
RU - Federazione Russa 14
NL - Olanda 9
ES - Italia 7
CH - Svizzera 6
CO - Colombia 5
EU - Europa 5
AT - Austria 4
AU - Australia 4
CL - Cile 4
HK - Hong Kong 4
MU - Mauritius 4
DK - Danimarca 3
LT - Lituania 3
LV - Lettonia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AR - Argentina 2
IL - Israele 2
IR - Iran 2
KG - Kirghizistan 2
MX - Messico 2
MY - Malesia 2
PK - Pakistan 2
RO - Romania 2
TR - Turchia 2
AM - Armenia 1
BD - Bangladesh 1
BY - Bielorussia 1
EC - Ecuador 1
FK - Isole Falkland (Malvinas) 1
GR - Grecia 1
IQ - Iraq 1
KE - Kenya 1
KW - Kuwait 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MD - Moldavia 1
NZ - Nuova Zelanda 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
ZA - Sudafrica 1
Totale 10.805
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Città #
Dublin 1.449
Chandler 1.080
Nanjing 797
Ashburn 465
Boardman 458
Jacksonville 342
Princeton 318
Lawrence 309
Nanchang 309
Medford 300
Wilmington 252
Changsha 236
Hebei 210
Shenyang 205
Jiaxing 189
Helsinki 171
Singapore 170
Beijing 168
Tianjin 143
Shanghai 133
Hangzhou 111
New York 80
Pavia 61
Milan 53
Norwalk 51
Ann Arbor 43
Fairfield 38
Seattle 34
Zhengzhou 31
Woodbridge 30
Toronto 28
Orange 26
Dong Ket 24
Ningbo 24
Pune 23
Washington 23
Brussels 21
Los Angeles 21
Munich 21
Turin 17
Chicago 14
Guangzhou 13
Tokyo 13
Jinan 12
Piscataway 12
Rome 12
Naples 11
Taizhou 11
Dallas 9
Fuzhou 9
Olomouc 9
Redwood City 9
Springfield 9
Robbiate 8
Prineville 7
Detroit 6
Falkenstein 6
Houston 6
Shijiazhuang 6
Amsterdam 5
Berlin 5
Brno 5
Cremona 5
Des Moines 5
Falls Church 5
Las Vegas 5
Ottawa 5
Sarnico 5
Gandía 4
Hong Kong 4
London 4
Menlo Park 4
Piombino 4
San Francisco 4
Santiago 4
Shenzhen 4
Sydney 4
Torino 4
Valledupar 4
Verolanuova 4
Wuhan 4
Zurich 4
Baoding 3
Borås 3
Brescia 3
Dearborn 3
Fayetteville 3
Fort Worth 3
Harbin 3
Hefei 3
Innsbruck 3
Nuremberg 3
Paris 3
Qingdao 3
Santa Clara 3
Vejle 3
Xi'an 3
Aberdeen 2
Auburn Hills 2
Azzano San Paolo 2
Totale 8.798
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy 98
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 86
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 77
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 60
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT 56
DYT2 screening in early-onset isolated dystonia in Italy 55
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 55
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 54
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 53
DYT2 screening in early-onset isolated dystonia 52
RFC1 expansions are a common cause of idiopathic sensory neuropathy 52
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 51
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 51
Gba mutations influence the release and pathological effects of small extracellular vesicles from fibroblasts of patients with parkinson’s disease 51
Genetic issues in the diagnosis of dystonias 50
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) 50
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 50
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 50
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 49
Altered PLP1 splicing causes hypomyelination of early myelinating structures 49
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 48
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 48
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 48
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome 48
A novel genetic prediction score in myoclonus-dystonia 48
CASK related disorder: Epilepsy and developmental outcome 48
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 47
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 47
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 47
The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm 47
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 46
PRRT2 gene mutations in a large family with paroxysmal kinesigenic dyskinesia and co-segregation with migraine with aura 46
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 46
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 46
RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME 46
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 46
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 46
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 46
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 46
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 45
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 45
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 45
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 45
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 45
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 44
A molecular classification of Joubert syndrome 44
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 44
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 44
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 44
Advances in genetics of movement disorders 43
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 43
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 43
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 43
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 42
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 42
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus dystonia: Evidence for genetic heterogeneity 42
Evaluation of the genetic contribution of Omi/HtrA2 to Parkinson's disease in an international collaborative study 42
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 42
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 42
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 42
A family study on primary blepharospasm 41
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 41
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage 41
"Gluing" phenotypes together The case of GLUT1 41
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 41
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 41
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum 41
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 41
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 41
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice 40
Investigating the SGCE gene in myoclonic syndromes: Guidelines for diagnostic testing 40
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype 40
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 40
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 40
EARLY-ONSET HEAD TITUBATION IN A CHILD WITH PORETTI-BOLTSHAUSER SYNDROME 40
Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine 40
Motile and non-motile cilia in human pathology: from function to phenotypes 40
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 40
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 40
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration 39
Corticostriatal synaptic plasticity in PINK1 heterozygous mice: Effects of mitochondrial complex I inhibition 39
Clinical and subclinical dopaminergic dysfunction in autosomal recessive PARK6-linked parkinsonism: An F-18-dopa PET study 39
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report 39
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 39
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 39
PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. 39
Dystonia 39
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 38
Olfactory function in parkinsonism caused by PINK1 mutations 38
Infantile neuroaxonal dystrophy in 14 Tunisian children 38
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 38
A novel family with an unusual early-onset generalized dystonia 38
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 38
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 38
Clinical genetics of primary blepharospasm 38
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 38
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 38
Validation of a workflow for the detection of small copy number variation from gene panels NGS data 38
A novel IRF2BPL truncating variant is associated with endolysosomal storage 38
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 38
Totale 4.525
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Categoria #
all - tutte 70.968
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 70.968
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020187 0 0 0 0 0 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
2024/20251.030 95 458 94 113 88 182 0 0 0 0 0 0
Totale 11.407