IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 2.817
EU - Europa 2.113
AS - Asia 644
OC - Oceania 4
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.582
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Nazione #
US - Stati Uniti d'America 2.817
IE - Irlanda 627
SE - Svezia 615
UA - Ucraina 374
SG - Singapore 326
CN - Cina 306
DE - Germania 212
FI - Finlandia 180
IT - Italia 46
RU - Federazione Russa 23
GB - Regno Unito 21
IN - India 6
NL - Olanda 4
AU - Australia 3
FR - Francia 3
HK - Hong Kong 3
AT - Austria 2
EU - Europa 2
RO - Romania 2
AE - Emirati Arabi Uniti 1
BE - Belgio 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
EG - Egitto 1
ID - Indonesia 1
IL - Israele 1
LU - Lussemburgo 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
Totale 5.582
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Città #
Jacksonville 672
Dublin 627
Chandler 548
Nyköping 329
Singapore 261
Dearborn 215
Ashburn 164
Beijing 136
Princeton 122
Medford 121
Cambridge 120
Des Moines 102
Boardman 86
Helsinki 54
Jinan 25
Wilmington 22
Shenyang 15
Ann Arbor 13
Messina 13
Los Angeles 12
Nanjing 11
Saint Petersburg 11
Zhengzhou 11
Haikou 10
Hebei 10
San Mateo 10
Houston 8
Norwalk 8
Seattle 8
Shenzhen 8
New York 7
Ningbo 7
Lappeenranta 6
Nanchang 6
Guangzhou 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
Dallas 2
Fuzhou 2
Ganzhou 2
Hong Kong 2
Lancaster 2
Munich 2
Tappahannock 2
Venice 2
Vienna 2
Al Ain City 1
Brisbane 1
Brno 1
Brussels 1
Bucharest 1
Cairo 1
Changle 1
Edinburgh 1
Forest City 1
Hefei 1
Hyderabad 1
Jakarta 1
Jiaxing 1
Kunming 1
Lagos 1
Las Cruces 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
Stockholm 1
Strasbourg 1
Taranaki 1
Tel Aviv 1
Vittoria 1
Xi'an 1
Xian 1
Zhongshan 1
Totale 3.888
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Nome #
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 84
An SCN9A channelopathy causes congenital inability to experience pain 67
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 67
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 66
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 66
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 63
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 63
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 61
Genetic testing for paediatric neurological disorders. 60
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 60
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 60
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 60
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 60
Advances in the genetics of primary torsion dystonia 60
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 59
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 59
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 59
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 59
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 59
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 58
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 58
A novel family with an unusual early-onset generalized dystonia 58
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 58
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 57
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 56
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 56
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 55
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 55
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 55
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 55
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 54
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 53
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 53
The role of DYT1 in primary torsion dystonia in Europe 52
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 52
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 52
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 52
Dopa-responsive dystonia: A clinical and molecular genetic study 52
A family study on primary blepharospasm 52
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 51
PARK6-linked parkinsonism occurs in several European families 51
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 50
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 50
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 50
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 50
Italian family with cranial cervical dystonia: Clinical and genetic study 50
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 50
Diffusion tensor imaging in Joubert sindrome 50
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 50
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 49
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 49
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 49
Deep brain stimulation in Myoclonus-dystonia syndrome 48
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 47
Genotypes and phenotypes of Joubert syndrome and related disorders. 47
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 47
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 47
DJ-1 mutations in Parkinson's disease 47
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 47
Guidelines for the use and interpretationof assays for monitoring autophagy 47
null 46
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 46
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 46
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 46
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 46
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 46
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 45
Joubert Syndrome and related disorders 45
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 44
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study 44
The epsilon-sarcoglycan gene in myoclonic syndromes 44
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 44
Phenotype variability of dystonia in monozygotic twins 44
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 44
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 44
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 44
I parkinsonismi ad esordio giovanile 44
PINK1 mutations are associated with sporadic early-onset parkinsonism 43
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 42
Primary torsion dystonia: the search for genes is not over 42
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 42
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 42
Clinical utility gene card for: Joubert syndrome 42
Mutation screening of the DYT6/THAP1 gene in Italy 42
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study 41
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 41
PARK6 is a common cause of familial parkinsonism 40
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 40
"Gluing" phenotypes together: the case of GLUT1. 40
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 39
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 39
Phenotypic characterization of DYT13 primary torsion dystonia 38
Normal cognitive functions in Joubert syndrome 38
Update on myoclonus-dystonia 37
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 37
GIGYF2 variants are not associated with Parkinson's disease in Italy 37
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 37
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease 37
Primary Focal Hyperhidrosis in a New Family Not Linked to Known Loci 37
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 36
Totale 4.982
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Categoria #
all - tutte 23.053
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 23.053
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020498 0 0 0 0 0 0 145 108 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
2024/2025385 23 54 36 139 99 34 0 0 0 0 0 0
Totale 5.607