IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 2.797
EU - Europa 2.087
AS - Asia 333
OC - Oceania 4
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.225
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Nazione #
US - Stati Uniti d'America 2.797
IE - Irlanda 627
SE - Svezia 614
UA - Ucraina 374
CN - Cina 283
DE - Germania 210
FI - Finlandia 170
SG - Singapore 43
IT - Italia 35
RU - Federazione Russa 23
GB - Regno Unito 21
IN - India 6
NL - Olanda 4
AU - Australia 3
EU - Europa 2
FR - Francia 2
RO - Romania 2
AT - Austria 1
BE - Belgio 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
EG - Egitto 1
IL - Israele 1
LU - Lussemburgo 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
Totale 5.225
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Città #
Jacksonville 672
Dublin 627
Chandler 548
Nyköping 329
Dearborn 215
Ashburn 164
Beijing 136
Princeton 122
Medford 121
Cambridge 120
Des Moines 102
Boardman 86
Helsinki 44
Jinan 25
Singapore 22
Wilmington 22
Shenyang 15
Ann Arbor 13
Nanjing 11
Saint Petersburg 11
Haikou 10
Hebei 10
San Mateo 10
Houston 8
Norwalk 8
Seattle 8
Ningbo 7
Zhengzhou 7
Lappeenranta 6
Los Angeles 6
Nanchang 6
New York 6
Guangzhou 5
Messina 5
Pune 5
Rome 5
Taiyuan 5
Taizhou 5
Woodbridge 5
Changsha 4
Lanzhou 4
Washington 4
Chengdu 3
Hangzhou 3
Tianjin 3
Cagliari 2
Catania 2
Chongqing 2
Fuzhou 2
Lancaster 2
Tappahannock 2
Venice 2
Brisbane 1
Brno 1
Brussels 1
Bucharest 1
Cairo 1
Changle 1
Edinburgh 1
Forest City 1
Hefei 1
Hyderabad 1
Jiaxing 1
Kunming 1
Lagos 1
Lausanne 1
Luxembourg 1
Melbourne 1
Mountain View 1
Nanning 1
Pavia 1
Perth 1
Puxian 1
Reggio Calabria 1
Salerno 1
Santa Clara 1
Strasbourg 1
Taranaki 1
Tel Aviv 1
Vienna 1
Vittoria 1
Xian 1
Totale 3.597
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Nome #
An SCN9A channelopathy causes congenital inability to experience pain 64
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 64
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 63
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 62
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 60
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 60
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 59
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 57
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 57
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 57
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 56
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 56
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 56
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 56
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 56
Genetic testing for paediatric neurological disorders. 55
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 55
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 55
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 54
A novel family with an unusual early-onset generalized dystonia 54
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 53
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 53
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 53
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 53
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 53
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 53
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 53
Advances in the genetics of primary torsion dystonia 53
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 53
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 52
The role of DYT1 in primary torsion dystonia in Europe 50
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 50
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 50
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 50
Dopa-responsive dystonia: A clinical and molecular genetic study 50
A family study on primary blepharospasm 50
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 49
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 49
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 49
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 48
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 48
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 48
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 48
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 48
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 47
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 47
PARK6-linked parkinsonism occurs in several European families 47
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 47
Diffusion tensor imaging in Joubert sindrome 47
Deep brain stimulation in Myoclonus-dystonia syndrome 46
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 46
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 46
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 45
Genotypes and phenotypes of Joubert syndrome and related disorders. 45
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 45
DJ-1 mutations in Parkinson's disease 45
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 45
Guidelines for the use and interpretationof assays for monitoring autophagy 45
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 44
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial cervical or upper limb onset 44
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 44
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 44
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 44
Joubert Syndrome and related disorders 44
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 43
Italian family with cranial cervical dystonia: Clinical and genetic study 43
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 43
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 42
PINK1 mutations are associated with sporadic early-onset parkinsonism 42
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study 42
The epsilon-sarcoglycan gene in myoclonic syndromes 42
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations 42
Phenotype variability of dystonia in monozygotic twins 42
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 42
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 42
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 42
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 40
Primary torsion dystonia: the search for genes is not over 40
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 40
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 40
Mutation screening of the DYT6/THAP1 gene in Italy 40
PARK6 is a common cause of familial parkinsonism 39
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study 39
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 39
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 38
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 37
I parkinsonismi ad esordio giovanile 37
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 37
"Gluing" phenotypes together: the case of GLUT1. 37
Phenotypic characterization of DYT13 primary torsion dystonia 36
Update on myoclonus-dystonia 36
Normal cognitive functions in Joubert syndrome 36
Clinical utility gene card for: Joubert syndrome 36
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 35
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 35
GIGYF2 variants are not associated with Parkinson's disease in Italy 35
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 35
Primary Focal Hyperhidrosis in a New Family Not Linked to Known Loci 35
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 34
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 34
Totale 4.676
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Categoria #
all - tutte 19.268
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 19.268
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.070 215 81 2 81 0 193 145 108 16 74 154 1
2020/2021689 111 2 119 44 14 109 0 79 0 122 44 45
2021/2022632 1 34 12 13 32 0 67 24 7 54 116 272
2022/20232.028 181 158 69 197 151 276 31 101 791 7 42 24
2023/2024381 41 66 16 122 38 42 6 4 0 9 8 29
2024/202523 23 0 0 0 0 0 0 0 0 0 0 0
Totale 5.245