IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 5.068
EU - Europa 4.758
AS - Asia 2.253
SA - Sud America 799
AF - Africa 68
Continente sconosciuto - Info sul continente non disponibili 29
OC - Oceania 5
Totale 12.980
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Nazione #
US - Stati Uniti d'America 4.986
RU - Federazione Russa 2.342
SG - Singapore 1.054
BR - Brasile 700
IE - Irlanda 625
SE - Svezia 614
CN - Cina 560
UA - Ucraina 384
HK - Hong Kong 313
DE - Germania 248
FI - Finlandia 188
FR - Francia 131
VN - Vietnam 119
IT - Italia 111
GB - Regno Unito 48
IN - India 36
AR - Argentina 35
BD - Bangladesh 33
CA - Canada 30
TR - Turchia 25
EC - Ecuador 21
ZA - Sudafrica 19
MA - Marocco 18
MX - Messico 18
VE - Venezuela 14
IQ - Iraq 13
AT - Austria 12
KE - Kenya 12
ID - Indonesia 10
NL - Olanda 9
PK - Pakistan 9
UZ - Uzbekistan 9
AE - Emirati Arabi Uniti 8
CO - Colombia 8
JP - Giappone 8
CR - Costa Rica 7
PY - Paraguay 7
SA - Arabia Saudita 7
CL - Cile 6
ES - Italia 6
JM - Giamaica 6
JO - Giordania 6
TN - Tunisia 6
OM - Oman 5
PL - Polonia 5
TT - Trinidad e Tobago 5
AL - Albania 4
AU - Australia 4
DZ - Algeria 4
KG - Kirghizistan 4
MY - Malesia 4
PH - Filippine 4
AZ - Azerbaigian 3
BA - Bosnia-Erzegovina 3
GE - Georgia 3
IL - Israele 3
LB - Libano 3
MD - Moldavia 3
NI - Nicaragua 3
PE - Perù 3
PS - Palestinian Territory 3
RO - Romania 3
RS - Serbia 3
UY - Uruguay 3
BE - Belgio 2
BO - Bolivia 2
CH - Svizzera 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
EG - Egitto 2
ET - Etiopia 2
EU - Europa 2
HN - Honduras 2
KZ - Kazakistan 2
LT - Lituania 2
NG - Nigeria 2
NP - Nepal 2
PA - Panama 2
PT - Portogallo 2
SY - Repubblica araba siriana 2
VG - Isole Vergini Britanniche 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GP - Guadalupe 1
GT - Guatemala 1
KW - Kuwait 1
LC - Santa Lucia 1
LU - Lussemburgo 1
MK - Macedonia 1
MT - Malta 1
NO - Norvegia 1
Totale 12.950
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Città #
Moscow 770
Jacksonville 675
Dublin 625
Singapore 622
Chandler 549
Ashburn 496
Dallas 388
Nyköping 328
Hong Kong 312
San Jose 300
Council Bluffs 242
Dearborn 215
Beijing 156
Princeton 121
Medford 120
Cambridge 119
Lauterbourg 107
Des Moines 102
Boardman 98
The Dalles 97
Los Angeles 94
Buffalo 58
Helsinki 55
São Paulo 45
Ho Chi Minh City 32
Santa Clara 30
Jinan 25
Hanoi 22
New York 22
Messina 21
Wilmington 21
Orem 20
Rio de Janeiro 20
Brasília 19
Guangzhou 19
Tianjin 19
Shenzhen 16
Campinas 15
Chicago 15
Curitiba 15
Redondo Beach 14
Rome 14
Shenyang 14
Zhengzhou 14
Ann Arbor 13
Belo Horizonte 13
Houston 13
Porto Alegre 13
Nuremberg 12
Salvador 12
Seattle 12
Shanghai 12
Brooklyn 11
Haikou 11
Munich 11
Saint Petersburg 11
Atlanta 10
Hebei 10
Nanjing 10
San Mateo 10
Chennai 9
Montreal 9
Washington 9
Catania 8
Dhaka 8
Goiânia 8
Guarulhos 8
Johannesburg 8
Nairobi 8
Norwalk 8
Tashkent 8
Columbus 7
Da Nang 7
Frankfurt am Main 7
Guayaquil 7
Lappeenranta 7
Las Vegas 7
Ningbo 7
Turku 7
Vienna 7
Amman 6
Campo Grande 6
Fortaleza 6
Haiphong 6
Istanbul 6
Itabira 6
Nanchang 6
Phoenix 6
Queens 6
Quito 6
Ribeirão Preto 6
San Diego 6
Tokyo 6
Baghdad 5
Canoas 5
Denver 5
Guarujá 5
Pune 5
Santiago 5
St Petersburg 5
Totale 7.532
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Nome #
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 207
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 207
Guidelines for the use and interpretationof assays for monitoring autophagy 170
An SCN9A channelopathy causes congenital inability to experience pain 166
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 164
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 157
Advances in the genetics of primary torsion dystonia 156
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 153
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 152
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 152
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 152
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 152
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 150
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 150
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 149
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 149
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 145
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 144
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 144
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 16 142
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 141
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 141
A novel family with an unusual early-onset generalized dystonia 140
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 133
A family study on primary blepharospasm 124
"Gluing" phenotypes together: the case of GLUT1. 122
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 118
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 115
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 114
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 112
Primary torsion dystonia: the search for genes is not over 111
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 110
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 110
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 109
Epilepsy Study Group of the Italian Neurological Society. Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis. 109
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 108
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 108
The role of DYT1 in primary torsion dystonia in Europe 107
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 107
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 107
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 106
PARK6-linked parkinsonism occurs in several European families 105
Genetic testing for paediatric neurological disorders. 104
Joubert Syndrome and related disorders 104
Dopa-responsive dystonia: A clinical and molecular genetic study 103
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 103
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 103
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 102
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 101
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 101
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 101
I parkinsonismi ad esordio giovanile 101
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 100
Genotypes and phenotypes of Joubert syndrome and related disorders. 99
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 99
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 99
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 99
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 99
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 99
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 99
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 98
Italian family with cranial cervical dystonia: Clinical and genetic study 98
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 98
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 98
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 98
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 97
Diffusion tensor imaging in Joubert sindrome 97
Mutation screening of the DYT6/THAP1 gene in Italy 96
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 95
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 95
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 95
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 94
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 94
DJ-1 mutations in Parkinson's disease 94
The epsilon-sarcoglycan gene in myoclonic syndromes 94
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 93
Ophthalmological findings in Joubert syndrome. 93
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 92
PINK1 mutations are associated with sporadic early-onset parkinsonism 92
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 92
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 92
Impaired body movement representation in DYT1 mutation carriers. 92
Deep brain stimulation in Myoclonus-dystonia syndrome 91
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 91
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 91
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 91
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 90
Update on myoclonus-dystonia 90
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 89
Phenotype variability of dystonia in monozygotic twins 88
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 88
Clinical utility gene card for: Joubert syndrome 88
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 88
PARK6 is a common cause of familial parkinsonism 87
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 87
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease 87
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 86
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 86
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 86
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 86
Totale 11.211
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Categoria #
all - tutte 44.615
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 44.615
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022582 0 0 0 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
2025/20265.114 172 323 438 342 292 1.247 682 583 586 129 140 180
2026/2027860 113 207 296 244 0 0 0 0 0 0 0 0
Totale 12.980