UniSa - IRIS Institutional Research Information System

VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 9.720
AS - Asia 6.879
EU - Europa 2.458
SA - Sud America 236
AF - Africa 42
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 9
AN - Antartide 1
Totale 19.357
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Nazione #
US - Stati Uniti d'America 9.651
HK - Hong Kong 4.321
SG - Singapore 1.084
UA - Ucraina 787
CN - Cina 567
VN - Vietnam 295
TR - Turchia 283
IT - Italia 278
DE - Germania 263
RU - Federazione Russa 225
BR - Brasile 208
IE - Irlanda 199
SE - Svezia 196
FI - Finlandia 183
KR - Corea 164
EE - Estonia 153
IN - India 88
GB - Regno Unito 40
CA - Canada 36
AT - Austria 25
MX - Messico 18
PL - Polonia 17
ES - Italia 16
JP - Giappone 15
AR - Argentina 10
BD - Bangladesh 10
EU - Europa 10
CH - Svizzera 9
FR - Francia 9
AU - Australia 8
IQ - Iraq 8
NL - Olanda 8
PK - Pakistan 8
ZA - Sudafrica 8
BE - Belgio 7
RO - Romania 7
RS - Serbia 7
ID - Indonesia 5
KE - Kenya 5
MA - Marocco 5
BG - Bulgaria 4
IL - Israele 4
UY - Uruguay 4
AL - Albania 3
CO - Colombia 3
EC - Ecuador 3
EG - Egitto 3
JO - Giordania 3
LC - Santa Lucia 3
LT - Lituania 3
ME - Montenegro 3
PA - Panama 3
TN - Tunisia 3
AM - Armenia 2
BJ - Benin 2
BW - Botswana 2
CI - Costa d'Avorio 2
CL - Cile 2
CU - Cuba 2
CW - ???statistics.table.value.countryCode.CW??? 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
HR - Croazia 2
KZ - Kazakistan 2
LK - Sri Lanka 2
MD - Moldavia 2
MG - Madagascar 2
NG - Nigeria 2
NO - Norvegia 2
PS - Palestinian Territory 2
PY - Paraguay 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
BO - Bolivia 1
BS - Bahamas 1
CG - Congo 1
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
DZ - Algeria 1
ET - Etiopia 1
GA - Gabon 1
GE - Georgia 1
GF - Guiana Francese 1
GH - Ghana 1
GL - Groenlandia 1
GN - Guinea 1
GP - Guadalupe 1
GT - Guatemala 1
HU - Ungheria 1
IR - Iran 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
Totale 19.346
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Città #
Hong Kong 4.321
Ann Arbor 2.692
Woodbridge 1.076
Jacksonville 966
Chandler 786
Wilmington 708
Princeton 611
Houston 567
Singapore 548
Dallas 354
Ashburn 300
Izmir 280
Dong Ket 253
Dublin 196
Nanjing 182
Andover 164
Tallinn 153
Boardman 129
Moscow 127
Mestre 104
Pellezzano 99
Pune 67
Shenyang 58
Nanchang 52
Los Angeles 51
Norwalk 51
Hebei 49
Changsha 43
Fairfield 43
Düsseldorf 38
Jiaxing 35
Washington 34
Seattle 27
Nuremberg 26
Tianjin 21
Brooklyn 19
Des Moines 18
New York 18
Beijing 17
São Paulo 17
Munich 16
Warsaw 15
Montreal 14
Tokyo 14
Edinburgh 13
Ho Chi Minh City 13
Salerno 13
San Diego 13
Vienna 13
Cambridge 12
Lappeenranta 12
Chicago 11
Grevenbroich 11
Mexico City 10
Spinea 10
Stockholm 10
Rome 9
Charlotte 8
London 8
Santa Clara 8
Atlanta 7
Hanoi 7
Amsterdam 6
Boston 6
Brussels 6
Campinas 6
Dearborn 6
Detroit 6
Johannesburg 6
Redmond 6
Redwood City 6
Toronto 6
Belgrade 5
Belo Horizonte 5
Chennai 5
Helsinki 5
Madrid 5
Milan 5
Nairobi 5
New Delhi 5
Biên Hòa 4
Calgary 4
Council Bluffs 4
Frankfurt am Main 4
Hanover 4
Manchester 4
Phoenix 4
San Francisco 4
Shanghai 4
Sofia 4
Sorocaba 4
St Petersburg 4
The Dalles 4
Amman 3
Blumenau 3
Bucharest 3
Castries 3
Cincinnati 3
Denver 3
Dhaka 3
Totale 15.720
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Nome #
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. 1.049
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. 528
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. 489
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 484
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 424
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells 357
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 326
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. 321
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 256
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. 251
Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel 215
Dopa-responsive dystonia: A clinical and molecular genetic study. 176
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 176
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 155
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 149
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. 147
Transcriptional regulator PRDM12 is essential for human pain perception 146
A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. 144
A novel family with an unusual early-onset generalized dystonia. 144
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 142
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. 133
Advances in the genetics of primary torsion dystonia 132
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 131
Phenotypic characterization of DYT13 primary torsion dystonia. 128
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 128
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 125
A solid quality-control analysis of AB SOLiD short-read sequencing data. 125
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. 123
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. 122
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. 120
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 119
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 119
A family study on primary blepharospasm. 117
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 117
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 117
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 116
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. 114
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) 114
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome. 112
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. 112
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 112
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 112
Parkinson Disease Genetics: A “Continuum” from Mendelian to Multifactorial Inheritance 111
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. 110
Genotypes and phenotypes of Joubert syndrome and related disorders. 110
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 109
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 109
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 107
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 107
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. 107
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome 107
The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 106
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 105
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 105
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 104
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 104
Primary cilia in neurodevelopmental disorders. 104
Suprascapular nerve entrapment. Neurophysiological localization in 6 cases. 104
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement. 104
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 104
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 103
"Gluing" phenotypes together: the case of GLUT1. 103
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 102
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. 102
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 102
PARK6-linked parkinsonism occurs in several European families. 102
Clinical utility gene card for: Joubert syndrome. 101
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 101
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. 100
An SCN9A channelopathy causes congenital inability to experience pain. 100
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 100
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. 100
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 100
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 100
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 100
Deep brain stimulation in Myoclonus-dystonia syndrome. 99
Normal cognitive functions in Joubert syndrome. 98
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 97
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. 97
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 97
Diffusion tensor imaging in Joubert sindrome. 97
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies 96
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 95
Joubert Syndrome and related disorders. 95
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? 95
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 94
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. 94
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease. 94
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita. 94
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs 94
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families 93
Guidelines for the use and interpretation of assays for monitoring autophagy. 92
GIGYF2 variants are not associated with Parkinson's disease in Italy. 91
Olfactory dysfunction in parkinsonism caused by PINK1 mutations. 91
Mutation screening of the DYT6/THAP1 gene in Italy. 91
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 91
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 90
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. 90
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 90
The epsilon-sarcoglycan gene in myoclonic syndromes 89
Totale 14.504
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Categoria #
all - tutte 58.146
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 58.146
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.069 0 0 0 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
2025/20265.691 1.021 1.959 2.042 91 578 0 0 0 0 0 0 0
Totale 19.527