UniSa - IRIS Institutional Research Information System

VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 9.045
EU - Europa 2.356
AS - Asia 1.885
SA - Sud America 121
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 10
OC - Oceania 8
Totale 13.437
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Nazione #
US - Stati Uniti d'America 9.025
UA - Ucraina 783
SG - Singapore 509
CN - Cina 501
TR - Turchia 281
IT - Italia 277
VN - Vietnam 256
DE - Germania 245
RU - Federazione Russa 221
IE - Irlanda 198
SE - Svezia 185
FI - Finlandia 179
KR - Corea 162
EE - Estonia 153
BR - Brasile 113
IN - India 72
HK - Hong Kong 69
GB - Regno Unito 25
AT - Austria 21
EU - Europa 10
CH - Svizzera 9
CA - Canada 8
JP - Giappone 8
AU - Australia 7
MX - Messico 7
BE - Belgio 6
ES - Italia 6
FR - Francia 6
PL - Polonia 6
RO - Romania 6
PK - Pakistan 5
RS - Serbia 5
BG - Bulgaria 4
NL - Olanda 4
ZA - Sudafrica 4
AR - Argentina 3
ID - Indonesia 3
IL - Israele 3
IQ - Iraq 3
MA - Marocco 3
ME - Montenegro 3
CZ - Repubblica Ceca 2
KE - Kenya 2
LK - Sri Lanka 2
MD - Moldavia 2
NO - Norvegia 2
PA - Panama 2
SI - Slovenia 2
UZ - Uzbekistan 2
VE - Venezuela 2
AL - Albania 1
AM - Armenia 1
AZ - Azerbaigian 1
BD - Bangladesh 1
CI - Costa d'Avorio 1
CL - Cile 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
GL - Groenlandia 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
JO - Giordania 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LC - Santa Lucia 1
LI - Liechtenstein 1
LT - Lituania 1
MM - Myanmar 1
NZ - Nuova Zelanda 1
TN - Tunisia 1
TW - Taiwan 1
UY - Uruguay 1
Totale 13.437
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Città #
Ann Arbor 2.692
Woodbridge 1.076
Jacksonville 964
Chandler 786
Wilmington 708
Princeton 611
Houston 565
Izmir 280
Ashburn 262
Dong Ket 253
Dublin 196
Nanjing 182
Andover 164
Tallinn 153
Singapore 145
Boardman 128
Moscow 126
Mestre 104
Pellezzano 99
Hong Kong 69
Pune 67
Shenyang 58
Nanchang 52
Norwalk 51
Hebei 49
Changsha 43
Fairfield 43
Düsseldorf 38
Jiaxing 35
Washington 34
Los Angeles 24
Seattle 24
Nuremberg 23
Tianjin 21
Des Moines 18
Edinburgh 13
Salerno 13
San Diego 13
Cambridge 12
Lappeenranta 12
Vienna 12
Beijing 11
Grevenbroich 11
Dallas 10
Spinea 10
Rome 9
São Paulo 9
Tokyo 7
Brussels 6
Dearborn 6
Detroit 6
Redmond 6
Redwood City 6
Belgrade 5
Campinas 5
Helsinki 5
Warsaw 5
Belo Horizonte 4
Chicago 4
Hanover 4
Madrid 4
Milan 4
New York 4
Shanghai 4
Sofia 4
St Petersburg 4
Blumenau 3
Frankfurt am Main 3
Guangzhou 3
Jinhua 3
Johannesburg 3
London 3
Podgorica 3
Santa Clara 3
Sorocaba 3
Sydney 3
Toronto 3
Amsterdam 2
Atlanta 2
Brasília 2
Bronx 2
Bucharest 2
Clifton 2
Curitiba 2
Hanoi 2
Indiana 2
La Laguna 2
Luziânia 2
Mainz 2
Manchester 2
Manhuaçu 2
Marília 2
Melbourne 2
Munich 2
Nairobi 2
Natal 2
Orange 2
Panama City 2
Piediluco 2
Prague 2
Totale 10.450
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Nome #
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 143
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 134
A novel family with an unusual early-onset generalized dystonia. 127
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. 127
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 120
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. 113
Advances in the genetics of primary torsion dystonia 113
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. 113
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. 111
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 109
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 108
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 107
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 107
Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel 107
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 106
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 104
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 103
A solid quality-control analysis of AB SOLiD short-read sequencing data. 103
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 102
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 102
Parkinson Disease Genetics: A “Continuum” from Mendelian to Multifactorial Inheritance 102
Genotypes and phenotypes of Joubert syndrome and related disorders. 101
A family study on primary blepharospasm. 100
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 100
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. 99
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. 99
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome. 98
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) 98
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. 97
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 96
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 96
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome 96
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 95
The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 95
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 94
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 94
Primary cilia in neurodevelopmental disorders. 94
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement. 94
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. 93
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 93
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 93
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 93
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 93
Suprascapular nerve entrapment. Neurophysiological localization in 6 cases. 93
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 93
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 92
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. 92
Phenotypic characterization of DYT13 primary torsion dystonia. 92
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. 92
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 92
Clinical utility gene card for: Joubert syndrome. 91
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. 91
Normal cognitive functions in Joubert syndrome. 91
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. 91
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 91
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 90
An SCN9A channelopathy causes congenital inability to experience pain. 90
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 89
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies 89
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita. 89
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 88
Deep brain stimulation in Myoclonus-dystonia syndrome. 88
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 88
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 88
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 87
PARK6-linked parkinsonism occurs in several European families. 87
"Gluing" phenotypes together: the case of GLUT1. 86
Joubert Syndrome and related disorders. 86
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 86
Diffusion tensor imaging in Joubert sindrome. 86
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 85
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. 85
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. 85
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. 84
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 84
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 84
A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. 83
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? 83
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 82
Mutation screening of the DYT6/THAP1 gene in Italy. 82
Clinical utility gene card for: Joubert syndrome--update 2013. 82
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families 82
GIGYF2 variants are not associated with Parkinson's disease in Italy. 81
Olfactory dysfunction in parkinsonism caused by PINK1 mutations. 81
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 81
Genetic issues in the diagnosis of dystonias. 80
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. 80
Genetic testing for paediatric neurological disorders. 79
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 79
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 79
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients. 78
Impaired body movement representation in DYT1 mutation carriers. 78
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease. 78
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort 78
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 78
The epsilon-sarcoglycan gene in myoclonic syndromes 77
The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome! 77
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs 77
The role of DYT1 in primary torsion dystonia in Europe. 76
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. 76
Totale 9.304
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Categoria #
all - tutte 41.848
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 41.848
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020171 0 0 0 0 0 0 0 0 0 0 167 4
2020/20211.397 5 161 162 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
2024/20251.282 93 12 39 192 23 152 255 244 162 107 3 0
Totale 13.607