CNR Institutional Research Information System

FRONTALI, MARINA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 1.766
NA - Nord America 1.304
EU - Europa 396
SA - Sud America 368
AF - Africa 20
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 4
Totale 3.864
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.222
SG - Singapore 753
CN - Cina 397
BR - Brasile 303
VN - Vietnam 219
HK - Hong Kong 153
FR - Francia 100
NL - Olanda 98
IT - Italia 92
KR - Corea 64
BD - Bangladesh 38
CA - Canada 30
GB - Regno Unito 28
JP - Giappone 28
IN - India 24
ID - Indonesia 23
MX - Messico 19
CO - Colombia 18
EC - Ecuador 18
DE - Germania 16
AR - Argentina 13
IL - Israele 9
VE - Venezuela 9
FI - Finlandia 8
PK - Pakistan 8
UA - Ucraina 8
AT - Austria 7
IQ - Iraq 7
MY - Malesia 7
TR - Turchia 7
NI - Nicaragua 6
RU - Federazione Russa 6
ZA - Sudafrica 6
BE - Belgio 5
JO - Giordania 5
LT - Lituania 5
SA - Arabia Saudita 5
AU - Australia 4
JM - Giamaica 4
AE - Emirati Arabi Uniti 3
CL - Cile 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
ES - Italia 3
HN - Honduras 3
PH - Filippine 3
PL - Polonia 3
TT - Trinidad e Tobago 3
UZ - Uzbekistan 3
AL - Albania 2
CH - Svizzera 2
EG - Egitto 2
GT - Guatemala 2
IE - Irlanda 2
KZ - Kazakistan 2
LV - Lettonia 2
MR - Mauritania 2
NG - Nigeria 2
OM - Oman 2
PY - Paraguay 2
SE - Svezia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AG - Antigua e Barbuda 1
AM - Armenia 1
AZ - Azerbaigian 1
BB - Barbados 1
BM - Bermuda 1
BS - Bahamas 1
CI - Costa d'Avorio 1
CM - Camerun 1
EE - Estonia 1
GD - Grenada 1
HR - Croazia 1
HU - Ungheria 1
LB - Libano 1
LC - Santa Lucia 1
MA - Marocco 1
MK - Macedonia 1
MN - Mongolia 1
NP - Nepal 1
PA - Panama 1
PE - Perù 1
PR - Porto Rico 1
PT - Portogallo 1
RS - Serbia 1
SD - Sudan 1
SV - El Salvador 1
TH - Thailandia 1
TN - Tunisia 1
UY - Uruguay 1
Totale 3.860
Salva come PNG Salva come JPEG
Città #
Santa Clara 450
Singapore 437
Hefei 162
Hong Kong 141
San Jose 98
Beijing 95
Lauterbourg 80
Ashburn 72
Ho Chi Minh City 70
Seoul 61
Hanoi 60
Dallas 29
New York 28
São Paulo 24
Los Angeles 21
Rome 18
Da Nang 17
Brasília 14
Brooklyn 11
Rio de Janeiro 10
Tokyo 10
Council Bluffs 9
Minamishinagawa 9
Buffalo 8
Chicago 8
Montreal 8
Belo Horizonte 7
Haiphong 7
Phoenix 7
Bengaluru 6
Frankfurt am Main 6
Guayaquil 6
Miami 6
Milan 6
Naples 6
Palermo 6
Philadelphia 6
Amman 5
Curitiba 5
Guarulhos 5
Kuala Lumpur 5
Managua 5
Medellín 5
Mexico City 5
Quito 5
Salvador 5
Shanghai 5
Antioch 4
Aparecida de Goiânia 4
Arlington 4
Atlanta 4
Bogotá 4
Boston 4
Bình Dương Province 4
City of London 4
Columbus 4
Dhaka 4
Fortaleza 4
Guangzhou 4
Helsinki 4
Hải Dương 4
Istanbul 4
Jaboatão dos Guararapes 4
London 4
Orem 4
Piscataway 4
Toronto 4
Agawam 3
Baltimore 3
Biên Hòa 3
Brussels 3
Can Tho 3
Charlotte 3
Chennai 3
Cincinnati 3
Cleveland 3
Clinton 3
Cuiabá 3
Denver 3
Elk Grove Village 3
Florianópolis 3
Fort Worth 3
Hollywood 3
Hyderabad 3
Itajaí 3
Kamakura 3
Knoxville 3
Las Vegas 3
Manchester 3
Murfreesboro 3
Orlando 3
Pittsburgh 3
Portland 3
Porto Alegre 3
Raleigh 3
Riyadh 3
San José 3
St Louis 3
St. Petersburg 3
Staten Island 3
Totale 2.248
Salva come PNG Salva come JPEG
Nome #
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 93
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 71
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 70
Fractal analysis reveals reduced complexity of retinal vessels in CADASIL 69
DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy 63
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 62
Approccio multidisciplinare in un modello di patologia genetica rara: la Malattia di Huntington. 62
Episodic ataxias: Faux or real? 61
De novo TITF1 gene mutation causing Benign Hereditary Chorea with Hypothyroidism and Pituitary Mass 59
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders 59
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 58
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family 57
Clinical and genetic characteristics of late-onset Huntington's disease 57
Leukocyte telomere shortening in Huntington's disease. 57
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset 56
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial 53
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 53
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia 52
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 51
Recommendations for the predictive genetic test in Huntington's disease. 51
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 51
Another patient with 12q13 microduplication 50
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus 49
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 48
Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. 48
Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial 48
Diagnostic genetic testing for huntington's disease 48
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 47
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 46
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. 45
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes. 45
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 45
The enigma of spinocerebellar ataxia type 6. 44
Characterization of the promoter and new isoformes of CACNA1A gene 44
Is the Oxidant/Antioxidant Status Altered in CADASIL Patients? 44
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 44
Beyond consent: ordinary abuses in HD presymptomatic genetic testing in Italy. 43
Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63] (S0303846718300933) (10.1016/j.clineuro.2018.02.042)) 43
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 43
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients 43
A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family 42
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature 42
Esperienza di consulenza genetica e comunicazione diagnostica nelle patologie neuromuscolari. 41
Does arterial hypertension influence the onset of Huntington's disease? 40
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 39
Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL A Randomized Controlled Trial 39
DNA markers in diagnosis of adult dominant polycystic kidney disease 38
Family and molecular data for a fine analysis of age at onset in Huntington disease 38
ON THE ESTIMATION OF THE AGE AT ONSET DISTRIBUTION IN HUNTINGTONS-CHOREA USING THE EM ALGORITHM 38
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 38
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. 37
Impaired vasoreactivity in mildly disabled CADASIL patients 37
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. 37
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes . 35
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. 35
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 35
Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. 34
Ordering of 44 genetic markers in the 6p22 cytogenetic band. 34
Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study. 34
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci 34
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 33
Predictive testing for Huntington's disease: Ten years' experience in two Italian centres 32
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations. 32
Non-DYT1 dystonia in a large Italian family 32
Italian family with cranial cervical dystonia: Clinical and genetic study 32
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1 31
CAG repeat instability, cryptic sequence variation and pathogeneticity: Evidence from different loci 31
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 31
Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset. 31
Construction of a YAC contig covering human chromosome 6p22 31
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice. 31
Suicidal ideation in a European Huntington's disease population 31
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome 30
Clinical and genetic study of a family with Familial Hemiplegic Migraine. 30
Use of DNA markers in diagnosis of Adult Dominant Polycystic Kidney Disease 30
A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs 30
Predictive medicine: an ethical challenge to medical practice 30
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 30
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 29
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea 29
Riluzole in cerebellar ataxia:a randomized, doubleblind, placebo-controlled pilot trial. 29
Trinucleotide repeat length instability and age of onset in Huntington's disease 28
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 28
Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset 28
Clusters di mutazioni di CACNA1A non troncanti la proteina che causano Atassia Episodica di tipo 2. 27
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. 27
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 27
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats 26
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I 26
Phenotype variability of dystonia in monozygotic twins 26
Primary torsion dystonia: The search for genes is not over 25
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 25
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): Clinical, neuroimaging, pathological and genetic study of a large Italian family 25
Autosomal Dominant Episodic Ataxia: study of an italian family 22
Totale 3.864
Salva come PNG Salva come JPEG
Categoria #
all - tutte 13.636
article - articoli 10.048
book - libri 281
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 516
Totale 24.481
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20246 0 0 0 0 0 0 0 0 1 0 4 1
2024/20251.408 6 4 84 61 431 41 20 23 16 101 345 276
2025/20261.990 87 247 258 277 354 50 278 102 90 121 58 68
2026/2027460 123 138 199 0 0 0 0 0 0 0 0 0
Totale 3.864