IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 3.739
EU - Europa 2.349
AS - Asia 1.755
SA - Sud America 753
AF - Africa 47
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.651
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Nazione #
US - Stati Uniti d'America 3.712
SG - Singapore 819
BR - Brasile 684
IE - Irlanda 627
SE - Svezia 615
CN - Cina 411
UA - Ucraina 380
HK - Hong Kong 309
DE - Germania 241
FI - Finlandia 191
RU - Federazione Russa 141
VN - Vietnam 92
IT - Italia 60
GB - Regno Unito 35
AR - Argentina 24
IN - India 19
TR - Turchia 17
MA - Marocco 16
EC - Ecuador 15
ZA - Sudafrica 14
BD - Bangladesh 13
AT - Austria 12
MX - Messico 11
ID - Indonesia 10
IQ - Iraq 10
CA - Canada 9
NL - Olanda 8
UZ - Uzbekistan 8
VE - Venezuela 8
FR - Francia 7
PY - Paraguay 7
AE - Emirati Arabi Uniti 6
KE - Kenya 6
CO - Colombia 5
OM - Oman 5
PK - Pakistan 5
PL - Polonia 5
AU - Australia 4
JO - Giordania 4
TN - Tunisia 4
AZ - Azerbaigian 3
CL - Cile 3
ES - Italia 3
GE - Georgia 3
JP - Giappone 3
PE - Perù 3
PS - Palestinian Territory 3
SA - Arabia Saudita 3
UY - Uruguay 3
BG - Bulgaria 2
CH - Svizzera 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
EG - Egitto 2
EU - Europa 2
KZ - Kazakistan 2
LT - Lituania 2
MD - Moldavia 2
NI - Nicaragua 2
NP - Nepal 2
PA - Panama 2
PT - Portogallo 2
RO - Romania 2
RS - Serbia 2
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BE - Belgio 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
IL - Israele 1
JM - Giamaica 1
KG - Kirghizistan 1
KW - Kuwait 1
LB - Libano 1
LU - Lussemburgo 1
MK - Macedonia 1
MT - Malta 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PH - Filippine 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 8.651
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Città #
Jacksonville 673
Dublin 627
Chandler 548
Singapore 399
Dallas 382
Ashburn 331
Nyköping 329
Hong Kong 308
Dearborn 215
Beijing 159
Princeton 122
Medford 121
Cambridge 120
Des Moines 102
Boardman 92
Los Angeles 83
Moscow 64
Buffalo 56
Helsinki 56
The Dalles 53
São Paulo 43
Ho Chi Minh City 30
Jinan 26
Wilmington 22
Rio de Janeiro 20
Messina 19
Brasília 17
Hanoi 17
New York 16
Shenyang 15
Curitiba 14
Redondo Beach 14
Zhengzhou 14
Ann Arbor 13
Belo Horizonte 13
Campinas 13
Tianjin 13
Nuremberg 12
Porto Alegre 12
Salvador 12
Munich 11
Nanjing 11
Saint Petersburg 11
Haikou 10
Hebei 10
San Mateo 10
Seattle 10
Houston 9
Shenzhen 9
Brooklyn 8
Goiânia 8
Guarulhos 8
Lappeenranta 8
Norwalk 8
Guangzhou 7
Ningbo 7
Tashkent 7
Turku 7
Vienna 7
Campo Grande 6
Fortaleza 6
Guayaquil 6
Johannesburg 6
Montreal 6
Nanchang 6
Ribeirão Preto 6
Rome 6
Canoas 5
Guarujá 5
Haiphong 5
Itabira 5
Nairobi 5
Pune 5
St Petersburg 5
Taiyuan 5
Taizhou 5
Taubaté 5
Thái Nguyên 5
Viamão 5
Warsaw 5
Washington 5
Woodbridge 5
Amman 4
Baghdad 4
Belém 4
Betim 4
Camaçari 4
Caxias do Sul 4
Changsha 4
Chennai 4
Council Bluffs 4
Denver 4
Dhaka 4
Itaquaquecetuba 4
Lanzhou 4
Maceió 4
Maracaibo 4
Muscat 4
Niterói 4
Nova Iguaçu 4
Totale 5.556
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Nome #
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 130
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 124
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 115
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 111
An SCN9A channelopathy causes congenital inability to experience pain 106
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 104
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 104
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 102
Advances in the genetics of primary torsion dystonia 102
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 98
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 97
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 97
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 94
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 94
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 94
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 93
A novel family with an unusual early-onset generalized dystonia 93
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 92
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 92
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 90
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 90
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 89
Guidelines for the use and interpretationof assays for monitoring autophagy 89
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 88
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 79
A family study on primary blepharospasm 79
Primary torsion dystonia: the search for genes is not over 78
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 78
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 77
Genetic testing for paediatric neurological disorders. 75
PARK6-linked parkinsonism occurs in several European families 75
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 75
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 74
The role of DYT1 in primary torsion dystonia in Europe 74
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 74
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 74
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 74
Joubert Syndrome and related disorders 74
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 73
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 72
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 72
"Gluing" phenotypes together: the case of GLUT1. 72
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 72
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 71
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 71
I parkinsonismi ad esordio giovanile 71
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 70
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 70
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 70
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 70
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 69
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 69
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 69
Diffusion tensor imaging in Joubert sindrome 69
Mutation screening of the DYT6/THAP1 gene in Italy 69
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 68
DJ-1 mutations in Parkinson's disease 68
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 67
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 67
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 67
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 66
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 66
Genotypes and phenotypes of Joubert syndrome and related disorders. 65
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 65
Dopa-responsive dystonia: A clinical and molecular genetic study 65
Italian family with cranial cervical dystonia: Clinical and genetic study 65
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 64
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 64
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 64
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 64
Epilepsy Study Group of the Italian Neurological Society. Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis. 64
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 63
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 63
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 63
Update on myoclonus-dystonia 63
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 63
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 63
Guidelines for the use and interpretation of assays for monitoring autophagy. 63
PARK6 is a common cause of familial parkinsonism 62
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 62
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 62
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 62
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 62
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 62
Deep brain stimulation in Myoclonus-dystonia syndrome 61
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 61
PINK1 mutations are associated with sporadic early-onset parkinsonism 60
The epsilon-sarcoglycan gene in myoclonic syndromes 60
Phenotype variability of dystonia in monozygotic twins 60
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 60
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 59
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 59
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 58
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 58
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 58
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies 58
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 57
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 57
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study 57
Phenotypic characterization of DYT13 primary torsion dystonia 57
Totale 7.449
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Categoria #
all - tutte 33.608
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 33.608
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021399 0 0 0 0 0 109 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
2024/20251.825 23 54 36 139 99 34 26 321 525 149 103 316
2025/20261.629 172 328 443 351 295 40 0 0 0 0 0 0
Totale 8.676