UniSa - IRIS Institutional Research Information System

VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 8.723
EU - Europa 1.923
AS - Asia 1.025
Continente sconosciuto - Info sul continente non disponibili 10
SA - Sud America 5
AF - Africa 3
OC - Oceania 2
Totale 11.691
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Nazione #
US - Stati Uniti d'America 8.715
UA - Ucraina 785
CN - Cina 455
TR - Turchia 281
IT - Italia 272
VN - Vietnam 265
DE - Germania 219
IE - Irlanda 199
SE - Svezia 188
FI - Finlandia 164
GB - Regno Unito 22
EU - Europa 10
CH - Svizzera 9
JP - Giappone 7
BE - Belgio 6
ES - Italia 6
FR - Francia 6
PL - Polonia 6
RO - Romania 6
RS - Serbia 5
BG - Bulgaria 4
CA - Canada 4
IN - India 4
AT - Austria 3
BR - Brasile 3
IL - Israele 3
NL - Olanda 3
RU - Federazione Russa 3
SG - Singapore 3
AU - Australia 2
CZ - Repubblica Ceca 2
EE - Estonia 2
MD - Moldavia 2
MX - Messico 2
NO - Norvegia 2
SI - Slovenia 2
AL - Albania 1
AM - Armenia 1
CL - Cile 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
GL - Groenlandia 1
HR - Croazia 1
HU - Ungheria 1
ID - Indonesia 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LI - Liechtenstein 1
LK - Sri Lanka 1
LT - Lituania 1
MA - Marocco 1
ME - Montenegro 1
PA - Panama 1
PK - Pakistan 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 11.691
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Città #
Ann Arbor 2.686
Woodbridge 1.089
Jacksonville 967
Chandler 801
Wilmington 707
Princeton 613
Houston 564
Izmir 281
Dong Ket 265
Dublin 199
Nanjing 182
Andover 166
Boardman 129
Mestre 104
Pellezzano 99
Shenyang 57
Nanchang 52
Hebei 51
Norwalk 51
Changsha 43
Fairfield 43
Düsseldorf 38
Jiaxing 34
Washington 34
Ashburn 28
Tianjin 21
Des Moines 18
Edinburgh 13
Salerno 13
San Diego 13
Cambridge 12
Grevenbroich 11
Spinea 10
Rome 9
Beijing 6
Brussels 6
Redwood City 6
Tokyo 6
Belgrade 5
Dearborn 5
Redmond 5
Seattle 5
Warsaw 5
Chicago 4
Hanover 4
London 4
Madrid 4
New York 4
Sofia 4
Detroit 3
Frankfurt am Main 3
Milan 3
Vienna 3
Boston 2
Bronx 2
Bucharest 2
Indiana 2
La Laguna 2
Manchester 2
Orange 2
Piediluco 2
Prague 2
São Paulo 2
Tallinn 2
Tel Aviv 2
Toronto 2
Zurich 2
Almaty 1
Amsterdam 1
Atlanta 1
Bari 1
Bergen 1
Birmingham 1
Bologna 1
Bordeaux 1
Budapest 1
Cairo 1
Chisinau 1
Copenhagen 1
Cormeilles-en-Parisis 1
Cuauhtémoc 1
Dambulla 1
Delhi 1
Denver 1
Dormagen 1
Duncan 1
Eindhoven 1
Fuzhou 1
Hangzhou 1
Hefei 1
Hyderabad 1
Islington 1
Jakarta 1
Johannesburg 1
Kingswood 1
Lappeenranta 1
Las Vegas 1
Ljubljana 1
Mezzolombardo 1
Montreal 1
Totale 9.549
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Nome #
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 116
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 111
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. 104
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 104
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 101
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 97
Parkinson Disease Genetics: A “Continuum” from Mendelian to Multifactorial Inheritance 97
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 96
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 96
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. 95
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 94
Advances in the genetics of primary torsion dystonia 94
Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel 93
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 92
Genotypes and phenotypes of Joubert syndrome and related disorders. 91
A solid quality-control analysis of AB SOLiD short-read sequencing data. 91
PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. 90
A family study on primary blepharospasm. 90
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 90
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 89
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 89
Normal cognitive functions in Joubert syndrome. 87
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 87
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 86
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 86
Phenotypic characterization of DYT13 primary torsion dystonia. 86
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 85
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. 85
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 85
The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 85
Suprascapular nerve entrapment. Neurophysiological localization in 6 cases. 85
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. 85
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) 85
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome. 84
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. 84
Primary cilia in neurodevelopmental disorders. 84
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita. 84
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 84
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 84
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 84
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 84
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement. 84
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome 84
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 83
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. 83
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 83
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 83
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. 82
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 82
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. 82
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies 82
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 81
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. 80
A novel family with an unusual early-onset generalized dystonia. 79
Diffusion tensor imaging in Joubert sindrome. 79
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. 79
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. 79
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 79
An SCN9A channelopathy causes congenital inability to experience pain. 78
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. 78
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 77
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. 77
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? 77
Clinical utility gene card for: Joubert syndrome. 76
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 76
PARK6-linked parkinsonism occurs in several European families. 76
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 76
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families 76
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients. 75
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 75
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 75
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 75
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 74
"Gluing" phenotypes together: the case of GLUT1. 74
Mutation screening of the DYT6/THAP1 gene in Italy. 74
Joubert Syndrome and related disorders. 74
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 74
Clinical utility gene card for: Joubert syndrome--update 2013. 74
Olfactory dysfunction in parkinsonism caused by PINK1 mutations. 73
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 73
Genetic issues in the diagnosis of dystonias. 73
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 73
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. 73
Deep brain stimulation in Myoclonus-dystonia syndrome. 73
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. 72
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease. 72
The role of DYT1 in primary torsion dystonia in Europe. 71
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 71
Syndromic parkinsonism and dementia associated with OPA1 missense mutations 71
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 70
GIGYF2 variants are not associated with Parkinson's disease in Italy. 70
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. 70
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 70
The epsilon-sarcoglycan gene in myoclonic syndromes 69
Genetic testing for paediatric neurological disorders. 69
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. 69
Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms 69
Impaired body movement representation in DYT1 mutation carriers. 68
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study. 68
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. 68
Totale 8.169
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Categoria #
all - tutte 22.031
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 22.031
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.068 0 0 38 79 44 257 76 59 98 61 338 18
2019/20201.285 452 12 166 0 145 2 165 5 163 4 167 4
2020/20211.419 8 162 163 0 165 60 166 7 153 2 212 321
2021/20221.081 1 0 2 2 24 9 12 44 170 135 130 552
2022/20231.855 214 136 33 166 289 395 0 192 261 2 129 38
2023/2024219 71 96 52 0 0 0 0 0 0 0 0 0
Totale 11.858