VALENTE, Enza Maria
 Distribuzione geografica
Continente #
NA - Nord America 2164
EU - Europa 1390
AS - Asia 283
Continente sconosciuto - Info sul continente non disponibili 2
AF - Africa 1
Totale 3840
Nazione #
US - Stati Uniti d'America 2164
SE - Svezia 569
UA - Ucraina 374
CN - Cina 283
DE - Germania 210
FI - Finlandia 164
IT - Italia 23
RU - Federazione Russa 23
GB - Regno Unito 20
NL - Olanda 4
EU - Europa 2
FR - Francia 2
CH - Svizzera 1
EG - Egitto 1
Totale 3840
Città #
Jacksonville 672
Chandler 517
Nyköping 284
Dearborn 215
Beijing 136
Princeton 122
Medford 121
Cambridge 120
Des Moines 102
Boardman 85
Helsinki 44
Jinan 25
Wilmington 22
Shenyang 15
Ann Arbor 13
Nanjing 11
Saint Petersburg 11
Haikou 10
Hebei 10
San Mateo 10
Houston 8
Norwalk 8
Ashburn 7
Ningbo 7
Zhengzhou 7
Nanchang 6
Seattle 6
Guangzhou 5
Taiyuan 5
Taizhou 5
Woodbridge 5
Changsha 4
Lanzhou 4
Chengdu 3
Hangzhou 3
Tianjin 3
Cagliari 2
Chongqing 2
Fuzhou 2
Lancaster 2
Messina 2
Rome 2
Cairo 1
Changle 1
Hefei 1
Jiaxing 1
Kunming 1
Lausanne 1
Los Angeles 1
Mountain View 1
Nanning 1
Pavia 1
Puxian 1
Reggio Calabria 1
Salerno 1
Strasbourg 1
Vittoria 1
Xian 1
Totale 2659
Nome #
An SCN9A channelopathy causes congenital inability to experience pain 49
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 48
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. 47
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 45
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 45
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 44
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 44
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 44
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 43
Surgical prognosis in carpal tunnel syndrome: Usefulness of a preoperative neurophysiological assessment 43
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 43
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 43
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 42
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 42
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism 42
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 42
Genetic testing for paediatric neurological disorders. 41
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. 41
The role of DYT1 in primary torsion dystonia in Europe 41
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 41
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 41
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 41
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 40
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 40
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 40
A novel family with an unusual early-onset generalized dystonia 40
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis 40
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 39
Dopa-responsive dystonia: A clinical and molecular genetic study 38
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 38
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 38
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas 37
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. 37
Suprascapular nerve entrapment - Neurophysiological localization in 6 cases 37
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 37
Deep brain stimulation in Myoclonus-dystonia syndrome 36
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle 36
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 36
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association 36
PARK6-linked parkinsonism occurs in several European families 36
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 36
A family study on primary blepharospasm 36
Advances in the genetics of primary torsion dystonia 36
Genotypes and phenotypes of Joubert syndrome and related disorders. 35
Double peaked potential in the neurophysiological evaluation of carpal tunnel syndrome 35
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 35
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease 35
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 35
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 35
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy 34
Primary torsion dystonia: the search for genes is not over 34
PINK1 mutations are associated with sporadic early-onset parkinsonism 34
DJ-1 mutations in Parkinson's disease 34
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 34
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 34
Diffusion tensor imaging in Joubert sindrome 34
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 34
Clinical and molecular phenotype of Aicardi-Goutières syndrome. 33
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands 33
The epsilon-sarcoglycan gene in myoclonic syndromes 33
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders 33
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 32
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 32
PARK6 is a common cause of familial parkinsonism 32
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 32
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration 32
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 32
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies 32
Phenotypic characterization of DYT13 primary torsion dystonia 31
Italian family with cranial cervical dystonia: Clinical and genetic study 31
Phenotype variability of dystonia in monozygotic twins 31
Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex. 31
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 30
Update on myoclonus-dystonia 30
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 30
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. 30
Joubert Syndrome and related disorders 30
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 29
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study 29
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson's disease gene rearrangements. 29
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 29
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 29
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 28
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study 28
I parkinsonismi ad esordio giovanile 28
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita 28
Guidelines for the use and interpretationof assays for monitoring autophagy 28
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 27
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 27
Normal cognitive functions in Joubert syndrome 27
Olfactory dysfunction in parkinsonism caused by PINK1 mutations 27
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 26
Mutation screening of the DYT6/THAP1 gene in Italy 26
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 26
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum 25
GIGYF2 variants are not associated with Parkinson's disease in Italy 25
Primary Focal Hyperhidrosis in a New Family Not Linked to Known Loci 25
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 25
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. 24
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 24
Totale 3472
Categoria #
all - tutte 7230
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 7230

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018159 0000 00 220 901226
2018/2019115 0000 1102 20 0100
2019/20201070 21581281 0193 145108 16741541
2020/2021689 111211944 14109 079 01224445
2021/2022632 1341213 320 6724 754116272
2022/20231046 18115869197 151276 140 0000
Totale 3859