UniSa - IRIS Institutional Research Information System

VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 9.658
AS - Asia 6.296
EU - Europa 2.445
SA - Sud America 200
AF - Africa 37
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 9
AN - Antartide 1
Totale 18.658
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Nazione #
US - Stati Uniti d'America 9.597
HK - Hong Kong 4.315
UA - Ucraina 786
CN - Cina 559
SG - Singapore 540
TR - Turchia 283
VN - Vietnam 282
IT - Italia 277
DE - Germania 262
RU - Federazione Russa 224
IE - Irlanda 199
SE - Svezia 195
FI - Finlandia 183
BR - Brasile 181
KR - Corea 164
EE - Estonia 153
IN - India 83
GB - Regno Unito 37
CA - Canada 32
AT - Austria 25
MX - Messico 15
PL - Polonia 15
ES - Italia 14
JP - Giappone 14
EU - Europa 10
BD - Bangladesh 9
CH - Svizzera 9
FR - Francia 9
AU - Australia 8
NL - Olanda 8
ZA - Sudafrica 8
AR - Argentina 7
BE - Belgio 7
IQ - Iraq 7
RS - Serbia 7
PK - Pakistan 6
RO - Romania 6
KE - Kenya 5
BG - Bulgaria 4
ID - Indonesia 4
IL - Israele 4
MA - Marocco 4
AL - Albania 3
EC - Ecuador 3
JO - Giordania 3
LT - Lituania 3
ME - Montenegro 3
PA - Panama 3
TN - Tunisia 3
UY - Uruguay 3
AM - Armenia 2
BJ - Benin 2
CI - Costa d'Avorio 2
CU - Cuba 2
CW - ???statistics.table.value.countryCode.CW??? 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
HR - Croazia 2
LC - Santa Lucia 2
LK - Sri Lanka 2
MD - Moldavia 2
MG - Madagascar 2
NG - Nigeria 2
NO - Norvegia 2
PS - Palestinian Territory 2
SI - Slovenia 2
UZ - Uzbekistan 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AQ - Antartide 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BS - Bahamas 1
BW - Botswana 1
CG - Congo 1
CL - Cile 1
CO - Colombia 1
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
DZ - Algeria 1
EG - Egitto 1
ET - Etiopia 1
GA - Gabon 1
GE - Georgia 1
GF - Guiana Francese 1
GL - Groenlandia 1
GN - Guinea 1
GP - Guadalupe 1
GT - Guatemala 1
HU - Ungheria 1
IR - Iran 1
KH - Cambogia 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LI - Liechtenstein 1
LU - Lussemburgo 1
LY - Libia 1
Totale 18.649
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Città #
Hong Kong 4.315
Ann Arbor 2.692
Woodbridge 1.076
Jacksonville 966
Chandler 786
Wilmington 708
Princeton 611
Houston 565
Dallas 347
Ashburn 290
Izmir 280
Dong Ket 253
Dublin 196
Nanjing 182
Singapore 176
Andover 164
Tallinn 153
Boardman 128
Moscow 126
Mestre 104
Pellezzano 99
Pune 67
Shenyang 58
Nanchang 52
Norwalk 51
Hebei 49
Los Angeles 46
Changsha 43
Fairfield 43
Düsseldorf 38
Jiaxing 35
Washington 34
Seattle 27
Nuremberg 26
Tianjin 21
Brooklyn 18
Des Moines 18
Beijing 16
Munich 16
São Paulo 16
Edinburgh 13
Salerno 13
San Diego 13
Tokyo 13
Vienna 13
Warsaw 13
Cambridge 12
Lappeenranta 12
Chicago 11
Grevenbroich 11
Montreal 11
New York 11
Spinea 10
Rome 9
Stockholm 9
Charlotte 8
Ho Chi Minh City 8
Santa Clara 8
Hanoi 7
London 7
Mexico City 7
Amsterdam 6
Boston 6
Brussels 6
Campinas 6
Dearborn 6
Detroit 6
Johannesburg 6
Redmond 6
Redwood City 6
Toronto 6
Atlanta 5
Belgrade 5
Belo Horizonte 5
Helsinki 5
Madrid 5
Nairobi 5
Chennai 4
Council Bluffs 4
Hanover 4
Milan 4
San Francisco 4
Shanghai 4
Sofia 4
St Petersburg 4
Amman 3
Blumenau 3
Calgary 3
Cincinnati 3
Denver 3
Dhaka 3
Erbil 3
Frankfurt am Main 3
Guangzhou 3
Guarulhos 3
Jaipur 3
Jinhua 3
Las Vegas 3
Manchester 3
New Delhi 3
Totale 15.277
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Nome #
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. 1.044
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. 525
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. 486
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 477
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 419
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells 351
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 325
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. 316
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 250
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. 244
Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel 210
Dopa-responsive dystonia: A clinical and molecular genetic study. 170
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 169
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 152
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 145
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. 143
Transcriptional regulator PRDM12 is essential for human pain perception 142
A novel family with an unusual early-onset generalized dystonia. 141
A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. 138
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 137
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. 128
Advances in the genetics of primary torsion dystonia 127
Phenotypic characterization of DYT13 primary torsion dystonia. 125
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 124
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 124
A solid quality-control analysis of AB SOLiD short-read sequencing data. 119
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 118
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. 118
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. 118
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. 118
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 115
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 114
A family study on primary blepharospasm. 113
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 113
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 112
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. 110
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 110
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome. 109
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 109
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) 109
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. 107
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. 107
Genotypes and phenotypes of Joubert syndrome and related disorders. 107
Parkinson Disease Genetics: A “Continuum” from Mendelian to Multifactorial Inheritance 107
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 106
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 106
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 104
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. 104
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 103
The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 103
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 102
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome 102
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 101
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 101
Primary cilia in neurodevelopmental disorders. 101
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 101
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 100
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 100
Suprascapular nerve entrapment. Neurophysiological localization in 6 cases. 100
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement. 100
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 99
"Gluing" phenotypes together: the case of GLUT1. 99
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 99
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. 98
PARK6-linked parkinsonism occurs in several European families. 98
Clinical utility gene card for: Joubert syndrome. 97
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 97
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 97
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 97
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 97
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. 96
Normal cognitive functions in Joubert syndrome. 96
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 96
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 96
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 95
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies 95
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. 95
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. 94
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 94
An SCN9A channelopathy causes congenital inability to experience pain. 93
Diffusion tensor imaging in Joubert sindrome. 93
Deep brain stimulation in Myoclonus-dystonia syndrome. 93
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 92
Joubert Syndrome and related disorders. 92
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 91
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita. 91
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? 91
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs 91
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. 89
GIGYF2 variants are not associated with Parkinson's disease in Italy. 88
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. 88
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 87
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease. 87
Mutation screening of the DYT6/THAP1 gene in Italy. 87
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 87
Olfactory dysfunction in parkinsonism caused by PINK1 mutations. 86
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families 86
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 86
The epsilon-sarcoglycan gene in myoclonic syndromes 84
Guidelines for the use and interpretation of assays for monitoring autophagy. 84
Totale 14.080
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Categoria #
all - tutte 53.465
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 53.465
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.231 0 0 162 0 165 59 166 7 152 2 210 308
2021/20221.075 1 0 2 2 24 9 12 44 167 133 130 551
2022/20231.819 213 134 33 161 286 389 0 188 248 2 127 38
2023/2024750 70 93 55 22 58 162 10 124 2 29 26 99
2024/20251.511 93 12 39 192 23 152 255 244 162 107 167 65
2025/20264.992 1.021 1.959 2.012 0 0 0 0 0 0 0 0 0
Totale 18.828