IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
EU - Europa 4.696
NA - Nord America 4.276
AS - Asia 2.242
SA - Sud America 783
AF - Africa 68
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 12.073
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Nazione #
US - Stati Uniti d'America 4.228
RU - Federazione Russa 2.342
SG - Singapore 1.054
BR - Brasile 692
IE - Irlanda 625
SE - Svezia 614
CN - Cina 554
UA - Ucraina 383
HK - Hong Kong 313
DE - Germania 246
FI - Finlandia 188
FR - Francia 124
VN - Vietnam 119
IT - Italia 75
GB - Regno Unito 40
IN - India 36
AR - Argentina 34
BD - Bangladesh 33
TR - Turchia 25
ZA - Sudafrica 19
EC - Ecuador 18
MA - Marocco 18
CA - Canada 17
MX - Messico 17
IQ - Iraq 13
AT - Austria 12
KE - Kenya 12
VE - Venezuela 12
ID - Indonesia 10
NL - Olanda 9
UZ - Uzbekistan 9
PK - Pakistan 8
CO - Colombia 7
JP - Giappone 7
PY - Paraguay 7
SA - Arabia Saudita 7
AE - Emirati Arabi Uniti 6
JO - Giordania 6
TN - Tunisia 6
CL - Cile 5
OM - Oman 5
PL - Polonia 5
AL - Albania 4
AU - Australia 4
DZ - Algeria 4
ES - Italia 4
KG - Kirghizistan 4
MY - Malesia 4
PH - Filippine 4
AZ - Azerbaigian 3
CR - Costa Rica 3
GE - Georgia 3
LB - Libano 3
MD - Moldavia 3
NI - Nicaragua 3
PE - Perù 3
PS - Palestinian Territory 3
RO - Romania 3
UY - Uruguay 3
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
CH - Svizzera 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
EG - Egitto 2
ET - Etiopia 2
EU - Europa 2
IL - Israele 2
JM - Giamaica 2
KZ - Kazakistan 2
LT - Lituania 2
NG - Nigeria 2
NP - Nepal 2
PA - Panama 2
PT - Portogallo 2
RS - Serbia 2
SY - Repubblica araba siriana 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BE - Belgio 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
GT - Guatemala 1
KW - Kuwait 1
LU - Lussemburgo 1
MK - Macedonia 1
MT - Malta 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
TH - Thailandia 1
VG - Isole Vergini Britanniche 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 12.073
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Città #
Moscow 770
Jacksonville 673
Dublin 625
Singapore 622
Chandler 548
Ashburn 438
Dallas 384
Nyköping 328
Hong Kong 312
Dearborn 215
San Jose 181
Beijing 154
Princeton 121
Medford 120
Cambridge 119
Lauterbourg 107
Des Moines 102
The Dalles 97
Boardman 92
Los Angeles 85
Council Bluffs 67
Buffalo 58
Helsinki 55
São Paulo 45
Ho Chi Minh City 32
Jinan 25
Hanoi 22
Wilmington 21
Messina 20
New York 20
Orem 20
Rio de Janeiro 20
Guangzhou 19
Tianjin 19
Brasília 17
Shenzhen 16
Curitiba 15
Campinas 14
Redondo Beach 14
Shenyang 14
Zhengzhou 14
Ann Arbor 13
Belo Horizonte 13
Porto Alegre 13
Nuremberg 12
Salvador 12
Shanghai 12
Haikou 11
Houston 11
Munich 11
Saint Petersburg 11
Seattle 11
Hebei 10
Nanjing 10
San Mateo 10
Santa Clara 10
Chennai 9
Brooklyn 8
Catania 8
Chicago 8
Dhaka 8
Goiânia 8
Guarulhos 8
Johannesburg 8
Nairobi 8
Norwalk 8
Tashkent 8
Da Nang 7
Frankfurt am Main 7
Lappeenranta 7
Montreal 7
Ningbo 7
Rome 7
Turku 7
Vienna 7
Amman 6
Campo Grande 6
Fortaleza 6
Guayaquil 6
Haiphong 6
Istanbul 6
Nanchang 6
Quito 6
Ribeirão Preto 6
Tokyo 6
Washington 6
Baghdad 5
Canoas 5
Denver 5
Guarujá 5
Itabira 5
Pune 5
St Petersburg 5
Taiyuan 5
Taizhou 5
Taubaté 5
Thái Nguyên 5
Viamão 5
Warsaw 5
Woodbridge 5
Totale 7.091
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Nome #
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 197
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 192
An SCN9A channelopathy causes congenital inability to experience pain 155
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 154
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 153
Advances in the genetics of primary torsion dystonia 152
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 149
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 148
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 147
Guidelines for the use and interpretationof assays for monitoring autophagy 146
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 146
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 142
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 142
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 142
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 142
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 140
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 138
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 16 137
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 136
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 136
A novel family with an unusual early-onset generalized dystonia 135
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 134
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 125
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 124
A family study on primary blepharospasm 117
"Gluing" phenotypes together: the case of GLUT1. 117
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 115
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 110
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 105
Epilepsy Study Group of the Italian Neurological Society. Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis. 105
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 104
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 104
Primary torsion dystonia: the search for genes is not over 104
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 103
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 103
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 102
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 102
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 102
The role of DYT1 in primary torsion dystonia in Europe 101
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 99
Genetic testing for paediatric neurological disorders. 98
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 96
PARK6-linked parkinsonism occurs in several European families 96
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 96
Joubert Syndrome and related disorders 96
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 95
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 94
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 94
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 94
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 94
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 94
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 94
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 93
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 93
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 93
Genotypes and phenotypes of Joubert syndrome and related disorders. 92
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 92
Dopa-responsive dystonia: A clinical and molecular genetic study 92
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 92
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 92
Mutation screening of the DYT6/THAP1 gene in Italy 92
I parkinsonismi ad esordio giovanile 91
Italian family with cranial cervical dystonia: Clinical and genetic study 90
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 90
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 89
Diffusion tensor imaging in Joubert sindrome 89
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 88
DJ-1 mutations in Parkinson's disease 88
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 88
Update on myoclonus-dystonia 88
Ophthalmological findings in Joubert syndrome. 88
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 87
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 87
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 87
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 87
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 87
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 87
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 86
The epsilon-sarcoglycan gene in myoclonic syndromes 86
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 85
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 85
Phenotype variability of dystonia in monozygotic twins 84
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 84
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 84
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 84
PINK1 mutations are associated with sporadic early-onset parkinsonism 83
Deep brain stimulation in Myoclonus-dystonia syndrome 83
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 83
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 83
Impaired body movement representation in DYT1 mutation carriers. 83
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 82
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 82
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 82
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 82
PARK6 is a common cause of familial parkinsonism 81
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 81
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 80
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 79
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI. 79
Phenotypic characterization of DYT13 primary torsion dystonia 78
Totale 10.487
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Categoria #
all - tutte 40.657
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 40.657
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202145 0 0 0 0 0 0 0 0 0 0 0 45
2021/2022629 1 34 12 13 32 0 67 23 7 54 116 270
2022/20232.021 179 158 69 197 151 276 30 101 787 7 42 24
2023/2024379 41 66 16 122 38 42 6 4 0 9 7 28
2024/20251.806 23 54 36 138 99 34 25 320 517 147 101 312
2025/20265.092 172 323 438 342 292 1.247 682 583 586 129 140 158
Totale 12.098