IRIS
VALENTE, Enza Maria
 Distribuzione geografica
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Continente #
NA - Nord America 3.750
EU - Europa 3.417
AS - Asia 1.846
SA - Sud America 758
AF - Africa 48
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 9.827
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Nazione #
US - Stati Uniti d'America 3.722
RU - Federazione Russa 1.209
SG - Singapore 895
BR - Brasile 688
IE - Irlanda 627
SE - Svezia 615
CN - Cina 424
UA - Ucraina 380
HK - Hong Kong 309
DE - Germania 241
FI - Finlandia 191
VN - Vietnam 92
IT - Italia 60
GB - Regno Unito 35
AR - Argentina 25
IN - India 19
TR - Turchia 17
MA - Marocco 16
EC - Ecuador 15
BD - Bangladesh 14
ZA - Sudafrica 14
AT - Austria 12
MX - Messico 12
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
KG - Kirghizistan 2
KZ - Kazakistan 2
LT - Lituania 2
MD - Moldavia 2
NG - Nigeria 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
KW - Kuwait 1
LB - Libano 1
LU - Lussemburgo 1
MK - Macedonia 1
MT - Malta 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PH - Filippine 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 9.827
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Città #
Jacksonville 673
Moscow 647
Dublin 627
Chandler 548
Singapore 472
Dallas 382
Ashburn 335
Nyköping 329
Hong Kong 308
Dearborn 215
Beijing 159
Princeton 122
Medford 121
Cambridge 120
Des Moines 102
Boardman 92
Los Angeles 83
Buffalo 56
Helsinki 56
The Dalles 53
São Paulo 44
Ho Chi Minh City 30
Jinan 26
Wilmington 22
Rio de Janeiro 20
Messina 19
New York 18
Brasília 17
Hanoi 17
Shenyang 15
Curitiba 14
Redondo Beach 14
Tianjin 14
Zhengzhou 14
Ann Arbor 13
Belo Horizonte 13
Campinas 13
Nuremberg 12
Porto Alegre 12
Salvador 12
Munich 11
Nanjing 11
Saint Petersburg 11
Haikou 10
Hebei 10
San Mateo 10
Seattle 10
Shenzhen 10
Guangzhou 9
Houston 9
Brooklyn 8
Goiânia 8
Guarulhos 8
Lappeenranta 8
Norwalk 8
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
Chicago 4
Council Bluffs 4
Denver 4
Dhaka 4
Itaquaquecetuba 4
Lanzhou 4
Maceió 4
Maracaibo 4
Muscat 4
Niterói 4
Totale 6.223
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Nome #
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 148
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 146
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 123
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 122
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 120
An SCN9A channelopathy causes congenital inability to experience pain 118
Advances in the genetics of primary torsion dystonia 118
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 117
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 116
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 113
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 111
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 109
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 108
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 108
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 108
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 107
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 107
A novel family with an unusual early-onset generalized dystonia 106
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 105
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 16 102
Guidelines for the use and interpretationof assays for monitoring autophagy 101
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 100
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 100
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 97
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 88
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 88
A family study on primary blepharospasm 88
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 87
Primary torsion dystonia: the search for genes is not over 87
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. 86
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 85
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 85
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 85
"Gluing" phenotypes together: the case of GLUT1. 85
Genetic testing for paediatric neurological disorders. 84
The role of DYT1 in primary torsion dystonia in Europe 84
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 83
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 83
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 83
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 81
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 81
PARK6-linked parkinsonism occurs in several European families 81
Joubert Syndrome and related disorders 81
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 80
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 80
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 79
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 79
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 79
I parkinsonismi ad esordio giovanile 79
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 78
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 78
Epilepsy Study Group of the Italian Neurological Society. Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis. 78
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 77
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 76
DJ-1 mutations in Parkinson's disease 76
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 76
Mutation screening of the DYT6/THAP1 gene in Italy 76
Genotypes and phenotypes of Joubert syndrome and related disorders. 75
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 75
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 75
Italian family with cranial cervical dystonia: Clinical and genetic study 75
Diffusion tensor imaging in Joubert sindrome 75
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 75
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 74
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 74
Dopa-responsive dystonia: A clinical and molecular genetic study 74
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 73
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 73
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 73
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 72
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 72
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 72
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 72
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 72
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 71
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 71
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 71
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 71
Guidelines for the use and interpretation of assays for monitoring autophagy. 71
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 70
PINK1 mutations are associated with sporadic early-onset parkinsonism 70
The epsilon-sarcoglycan gene in myoclonic syndromes 70
Phenotype variability of dystonia in monozygotic twins 70
Update on myoclonus-dystonia 70
PARK6 is a common cause of familial parkinsonism 69
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 69
Deep brain stimulation in Myoclonus-dystonia syndrome 69
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 69
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 69
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 69
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 69
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 68
Phenotypic characterization of DYT13 primary torsion dystonia 67
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 67
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 67
Ophthalmological findings in Joubert syndrome. 67
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies 67
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 67
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 66
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study 65
Totale 8.446
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Categoria #
all - tutte 35.351
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 35.351
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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
2025/20262.805 172 328 443 351 295 1.216 0 0 0 0 0 0
Totale 9.852