UniSa - IRIS Institutional Research Information System

VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 10.727
AS - Asia 7.567
EU - Europa 2.698
SA - Sud America 349
AF - Africa 90
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 10
AN - Antartide 1
Totale 21.454
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Nazione #
US - Stati Uniti d'America 10.633
HK - Hong Kong 4.366
SG - Singapore 1.372
UA - Ucraina 790
CN - Cina 625
VN - Vietnam 419
TR - Turchia 292
IT - Italia 290
DE - Germania 288
BR - Brasile 259
RU - Federazione Russa 236
IE - Irlanda 206
SE - Svezia 197
FI - Finlandia 183
FR - Francia 166
KR - Corea 164
EE - Estonia 153
IN - India 120
GB - Regno Unito 48
CA - Canada 42
BD - Bangladesh 35
JP - Giappone 31
MX - Messico 29
AT - Austria 28
AR - Argentina 24
ZA - Sudafrica 23
ES - Italia 19
IQ - Iraq 19
PK - Pakistan 19
PL - Polonia 18
CO - Colombia 17
ID - Indonesia 16
MA - Marocco 16
EC - Ecuador 14
NL - Olanda 11
PH - Filippine 11
SA - Arabia Saudita 11
TN - Tunisia 11
EU - Europa 10
VE - Venezuela 10
CH - Svizzera 9
KE - Kenya 9
AU - Australia 8
CL - Cile 8
MY - Malesia 8
BE - Belgio 7
IL - Israele 7
RO - Romania 7
RS - Serbia 7
UY - Uruguay 7
UZ - Uzbekistan 6
AE - Emirati Arabi Uniti 5
BG - Bulgaria 5
EG - Egitto 5
JO - Giordania 4
PY - Paraguay 4
AL - Albania 3
BO - Bolivia 3
CG - Congo 3
CZ - Repubblica Ceca 3
KZ - Kazakistan 3
LC - Santa Lucia 3
LT - Lituania 3
ME - Montenegro 3
NI - Nicaragua 3
PA - Panama 3
SY - Repubblica araba siriana 3
AM - Armenia 2
AO - Angola 2
AZ - Azerbaigian 2
BJ - Benin 2
BW - Botswana 2
BY - Bielorussia 2
CI - Costa d'Avorio 2
CU - Cuba 2
CW - ???statistics.table.value.countryCode.CW??? 2
CY - Cipro 2
DK - Danimarca 2
ET - Etiopia 2
GT - Guatemala 2
HR - Croazia 2
HU - Ungheria 2
IR - Iran 2
KW - Kuwait 2
LK - Sri Lanka 2
LY - Libia 2
MD - Moldavia 2
MG - Madagascar 2
MM - Myanmar 2
MN - Mongolia 2
MU - Mauritius 2
NG - Nigeria 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
OM - Oman 2
PE - Perù 2
PS - Palestinian Territory 2
SI - Slovenia 2
YE - Yemen 2
AQ - Antartide 1
Totale 21.425
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Città #
Hong Kong 4.364
Ann Arbor 2.692
Woodbridge 1.076
Jacksonville 966
Chandler 786
Singapore 711
Wilmington 708
Princeton 611
Houston 568
San Jose 475
Ashburn 419
Dallas 357
Izmir 280
Dong Ket 253
Dublin 201
Nanjing 182
Council Bluffs 171
Andover 164
Tallinn 153
Lauterbourg 147
Boardman 130
Moscow 128
The Dalles 118
Mestre 104
Pellezzano 99
Pune 68
Ho Chi Minh City 59
Los Angeles 59
Shenyang 58
Nanchang 54
Norwalk 51
Hebei 49
Changsha 43
Fairfield 43
Düsseldorf 38
Hanoi 37
Jiaxing 35
Washington 35
Tokyo 30
Seattle 28
Nuremberg 27
Frankfurt am Main 24
New York 24
Brooklyn 23
Tianjin 22
Beijing 21
Santa Clara 21
Des Moines 19
São Paulo 19
Montreal 17
Munich 17
Chicago 16
Warsaw 16
Vienna 15
Edinburgh 13
Johannesburg 13
Salerno 13
San Diego 13
Cambridge 12
Lappeenranta 12
Mexico City 12
Grevenbroich 11
Stockholm 11
Orem 10
Rome 10
Spinea 10
Amsterdam 9
London 9
Nairobi 9
Atlanta 8
Baghdad 8
Charlotte 8
New Delhi 8
Boston 7
Campinas 7
Chennai 7
Denver 7
Guayaquil 7
Phoenix 7
Belo Horizonte 6
Brussels 6
Calgary 6
Dearborn 6
Detroit 6
Dhaka 6
Lahore 6
Manchester 6
Milan 6
Redmond 6
Redwood City 6
Toronto 6
Belgrade 5
Biên Hòa 5
Da Nang 5
Helsinki 5
Madrid 5
Montevideo 5
San Francisco 5
Shanghai 5
Amman 4
Totale 17.188
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Nome #
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. 1.062
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. 545
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. 499
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 497
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 435
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells 369
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 341
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. 330
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. 265
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 264
Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel 227
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 192
Dopa-responsive dystonia: A clinical and molecular genetic study. 188
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 171
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 170
A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. 161
A novel family with an unusual early-onset generalized dystonia. 161
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. 159
Transcriptional regulator PRDM12 is essential for human pain perception 158
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. 157
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 153
Advances in the genetics of primary torsion dystonia 150
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 147
A solid quality-control analysis of AB SOLiD short-read sequencing data. 143
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 140
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 140
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 137
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. 136
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 136
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. 136
Phenotypic characterization of DYT13 primary torsion dystonia. 136
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 135
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome. 133
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. 133
A family study on primary blepharospasm. 132
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 129
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 129
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) 129
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. 128
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 128
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 127
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 126
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. 125
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. 125
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 124
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 122
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 122
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 121
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. 121
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 120
PARK6-linked parkinsonism occurs in several European families. 120
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 119
Parkinson Disease Genetics: A “Continuum” from Mendelian to Multifactorial Inheritance 119
"Gluing" phenotypes together: the case of GLUT1. 118
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 118
The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 117
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement. 117
Genotypes and phenotypes of Joubert syndrome and related disorders. 116
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 116
An SCN9A channelopathy causes congenital inability to experience pain. 116
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 116
Suprascapular nerve entrapment. Neurophysiological localization in 6 cases. 116
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome 116
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. 115
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 115
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 115
Primary cilia in neurodevelopmental disorders. 114
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. 114
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 113
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 113
Clinical utility gene card for: Joubert syndrome. 112
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 112
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 111
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. 111
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies 111
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. 111
Deep brain stimulation in Myoclonus-dystonia syndrome. 111
Normal cognitive functions in Joubert syndrome. 110
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? 109
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease. 108
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita. 108
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families 108
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. 107
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 107
Diffusion tensor imaging in Joubert sindrome. 106
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 106
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs 106
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 105
Olfactory dysfunction in parkinsonism caused by PINK1 mutations. 105
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. 105
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 105
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 104
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 104
Clinical utility gene card for: Joubert syndrome--update 2013. 104
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 103
Joubert Syndrome and related disorders. 103
Guidelines for the use and interpretation of assays for monitoring autophagy. 102
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 102
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. 102
PINK1 mutations are associated with sporadic early-onset parkinsonism. 101
Totale 15.836
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Categoria #
all - tutte 62.652
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 62.652
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021518 0 0 0 0 0 0 0 0 0 0 210 308
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
2025/20267.788 1.021 1.959 2.042 91 620 248 922 126 164 573 22 0
Totale 21.624