IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
EU - Europa 4.710
NA - Nord America 4.011
AS - Asia 2.249
SA - Sud America 799
AF - Africa 68
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 11.845
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Nazione #
US - Stati Uniti d'America 3.975
RU - Federazione Russa 2.358
SG - Singapore 1.059
BR - Brasile 706
IE - Irlanda 629
SE - Svezia 615
CN - Cina 559
UA - Ucraina 383
HK - Hong Kong 315
DE - Germania 249
FI - Finlandia 191
FR - Francia 122
VN - Vietnam 121
IT - Italia 63
GB - Regno Unito 41
AR - Argentina 35
IN - India 35
BD - Bangladesh 26
TR - Turchia 25
ZA - Sudafrica 19
EC - Ecuador 18
MA - Marocco 18
MX - Messico 17
IQ - Iraq 13
AT - Austria 12
ID - Indonesia 12
KE - Kenya 12
VE - Venezuela 12
NL - Olanda 11
CA - Canada 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
CL - Cile 6
JO - Giordania 6
TN - Tunisia 6
OM - Oman 5
PL - Polonia 5
AU - Australia 4
DZ - Algeria 4
KG - Kirghizistan 4
PH - Filippine 4
AL - Albania 3
AZ - Azerbaigian 3
ES - Italia 3
GE - Georgia 3
LB - Libano 3
MD - Moldavia 3
MY - Malesia 3
NI - Nicaragua 3
PE - Perù 3
PS - Palestinian Territory 3
UY - Uruguay 3
BA - Bosnia-Erzegovina 2
BG - Bulgaria 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
RO - Romania 2
RS - Serbia 2
SY - Repubblica araba siriana 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BE - Belgio 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
KW - Kuwait 1
LU - Lussemburgo 1
MK - Macedonia 1
MT - Malta 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
TH - Thailandia 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 11.845
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Città #
Moscow 777
Jacksonville 673
Dublin 629
Singapore 623
Chandler 548
Ashburn 411
Dallas 383
Nyköping 329
Hong Kong 314
Dearborn 215
Beijing 159
Princeton 122
Medford 121
Cambridge 120
Lauterbourg 108
Des Moines 102
The Dalles 97
Boardman 92
Los Angeles 86
San Jose 62
Buffalo 56
Helsinki 56
São Paulo 45
Ho Chi Minh City 34
Jinan 26
Hanoi 22
Wilmington 22
Rio de Janeiro 20
Guangzhou 19
Messina 19
New York 19
Orem 19
Tianjin 18
Brasília 17
Shenzhen 16
Curitiba 15
Shenyang 15
Campinas 14
Nuremberg 14
Redondo Beach 14
Zhengzhou 14
Ann Arbor 13
Belo Horizonte 13
Porto Alegre 13
Shanghai 13
Salvador 12
Haikou 11
Munich 11
Nanjing 11
Saint Petersburg 11
Hebei 10
Houston 10
San Mateo 10
Seattle 10
Chennai 9
Brooklyn 8
Dhaka 8
Goiânia 8
Guarulhos 8
Johannesburg 8
Lappeenranta 8
Nairobi 8
Norwalk 8
Tashkent 8
Chicago 7
Da Nang 7
Frankfurt am Main 7
Ningbo 7
Turku 7
Vienna 7
Amman 6
Campo Grande 6
Council Bluffs 6
Fortaleza 6
Guayaquil 6
Haiphong 6
Montreal 6
Nanchang 6
Quito 6
Ribeirão Preto 6
Rome 6
Santa Clara 6
Tokyo 6
Baghdad 5
Canoas 5
Denver 5
Guarujá 5
Istanbul 5
Itabira 5
Pune 5
St Petersburg 5
Taiyuan 5
Taizhou 5
Taubaté 5
Thái Nguyên 5
Viamão 5
Warsaw 5
Washington 5
Woodbridge 5
Amsterdam 4
Totale 6.898
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Nome #
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 194
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 189
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 151
An SCN9A channelopathy causes congenital inability to experience pain 150
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 150
Advances in the genetics of primary torsion dystonia 149
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 148
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 145
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 145
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 141
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 141
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 139
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 137
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 137
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 16 136
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 136
Guidelines for the use and interpretationof assays for monitoring autophagy 135
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 134
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 133
A novel family with an unusual early-onset generalized dystonia 133
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 132
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 130
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 119
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 118
A family study on primary blepharospasm 116
"Gluing" phenotypes together: the case of GLUT1. 114
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 112
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 109
Epilepsy Study Group of the Italian Neurological Society. Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis. 105
Primary torsion dystonia: the search for genes is not over 103
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 102
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 102
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 102
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 101
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 101
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 100
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 98
Genetic testing for paediatric neurological disorders. 97
The role of DYT1 in primary torsion dystonia in Europe 96
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 95
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 95
PARK6-linked parkinsonism occurs in several European families 95
Joubert Syndrome and related disorders 95
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 93
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 93
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 93
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 93
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 92
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 92
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 91
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 91
Dopa-responsive dystonia: A clinical and molecular genetic study 91
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 91
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 90
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 90
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 89
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 89
I parkinsonismi ad esordio giovanile 89
Mutation screening of the DYT6/THAP1 gene in Italy 89
Genotypes and phenotypes of Joubert syndrome and related disorders. 88
Italian family with cranial cervical dystonia: Clinical and genetic study 88
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 88
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 87
Diffusion tensor imaging in Joubert sindrome 87
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 86
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 86
Update on myoclonus-dystonia 86
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 86
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 85
DJ-1 mutations in Parkinson's disease 85
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 85
Guidelines for the use and interpretation of assays for monitoring autophagy. 85
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 84
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 84
The epsilon-sarcoglycan gene in myoclonic syndromes 84
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 84
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 84
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 84
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 83
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 83
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 83
Ophthalmological findings in Joubert syndrome. 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 82
Phenotype variability of dystonia in monozygotic twins 82
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 82
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 81
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 81
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 81
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 81
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 81
Impaired body movement representation in DYT1 mutation carriers. 81
PINK1 mutations are associated with sporadic early-onset parkinsonism 80
Deep brain stimulation in Myoclonus-dystonia syndrome 80
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 80
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 78
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 78
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 78
PARK6 is a common cause of familial parkinsonism 77
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 77
Phenotypic characterization of DYT13 primary torsion dystonia 76
Totale 10.210
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Categoria #
all - tutte 38.644
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 38.644
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021211 0 0 0 0 0 0 0 0 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
2024/20251.825 23 54 36 139 99 34 26 321 525 149 103 316
2025/20264.824 172 328 443 351 295 1.255 689 584 589 118 0 0
Totale 11.871