CNR Institutional Research Information System

FRONTALI, MARINA
 Distribuzione geografica
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Continente #
AS - Asia 1.734
NA - Nord America 1.040
EU - Europa 348
SA - Sud America 346
AF - Africa 19
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 3.493
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Nazione #
US - Stati Uniti d'America 977
SG - Singapore 750
CN - Cina 396
BR - Brasile 296
VN - Vietnam 217
HK - Hong Kong 149
FR - Francia 98
NL - Olanda 98
KR - Corea 64
IT - Italia 54
BD - Bangladesh 32
JP - Giappone 28
GB - Regno Unito 24
IN - India 24
CA - Canada 21
ID - Indonesia 17
MX - Messico 17
EC - Ecuador 16
DE - Germania 15
AR - Argentina 13
CO - Colombia 9
IL - Israele 9
FI - Finlandia 8
PK - Pakistan 8
AT - Austria 7
IQ - Iraq 7
UA - Ucraina 7
RU - Federazione Russa 6
TR - Turchia 6
ZA - Sudafrica 6
JO - Giordania 5
LT - Lituania 5
NI - Nicaragua 5
SA - Arabia Saudita 5
VE - Venezuela 5
AU - Australia 4
BE - Belgio 4
AE - Emirati Arabi Uniti 3
CL - Cile 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
ES - Italia 3
PL - Polonia 3
TT - Trinidad e Tobago 3
UZ - Uzbekistan 3
AL - Albania 2
CH - Svizzera 2
CR - Costa Rica 2
EG - Egitto 2
HN - Honduras 2
IE - Irlanda 2
JM - Giamaica 2
KZ - Kazakistan 2
LV - Lettonia 2
MR - Mauritania 2
MY - Malesia 2
OM - Oman 2
PY - Paraguay 2
SE - Svezia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AM - Armenia 1
AZ - Azerbaigian 1
BB - Barbados 1
BM - Bermuda 1
BS - Bahamas 1
CI - Costa d'Avorio 1
CM - Camerun 1
GD - Grenada 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
LC - Santa Lucia 1
MA - Marocco 1
MK - Macedonia 1
MN - Mongolia 1
NG - Nigeria 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
PT - Portogallo 1
RS - Serbia 1
SD - Sudan 1
SV - El Salvador 1
TH - Thailandia 1
TN - Tunisia 1
UY - Uruguay 1
Totale 3.493
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Città #
Santa Clara 448
Singapore 435
Hefei 162
Hong Kong 140
Beijing 95
San Jose 88
Lauterbourg 80
Ho Chi Minh City 69
Ashburn 63
Seoul 61
Hanoi 60
Dallas 27
New York 25
São Paulo 24
Los Angeles 19
Da Nang 17
Brasília 11
Rio de Janeiro 10
Tokyo 10
Minamishinagawa 9
Rome 9
Belo Horizonte 7
Buffalo 7
Chicago 7
Montreal 7
Bengaluru 6
Brooklyn 6
Frankfurt am Main 6
Haiphong 6
Phoenix 6
Amman 5
Curitiba 5
Guarulhos 5
Guayaquil 5
Managua 5
Palermo 5
Quito 5
Salvador 5
Aparecida de Goiânia 4
Bình Dương Province 4
City of London 4
Fortaleza 4
Guangzhou 4
Helsinki 4
Hải Dương 4
Jaboatão dos Guararapes 4
London 4
Mexico City 4
Orem 4
Shanghai 4
Toronto 4
Agawam 3
Atlanta 3
Biên Hòa 3
Boston 3
Brussels 3
Can Tho 3
Charlotte 3
Chennai 3
Cuiabá 3
Dhaka 3
Elk Grove Village 3
Florianópolis 3
Fort Worth 3
Hyderabad 3
Istanbul 3
Itajaí 3
Kamakura 3
Manchester 3
Medellín 3
Miami 3
Murfreesboro 3
Orlando 3
Philadelphia 3
Piscataway 3
Porto Alegre 3
Raleigh 3
Riyadh 3
Tashkent 3
Thái Nguyên 3
Turku 3
Warsaw 3
Albuquerque 2
Algiers 2
Amsterdam 2
Anápolis 2
Arlington 2
Baghdad 2
Balch Springs 2
Baltimore 2
Betim 2
Bogotá 2
Brisbane 2
Bursa 2
Bạc Liêu 2
Campinas 2
Campo Grande 2
Canoas 2
Cascavel 2
Catanduva 2
Totale 2.141
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Nome #
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 87
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 67
Fractal analysis reveals reduced complexity of retinal vessels in CADASIL 65
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 64
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 61
Approccio multidisciplinare in un modello di patologia genetica rara: la Malattia di Huntington. 61
DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy 60
De novo TITF1 gene mutation causing Benign Hereditary Chorea with Hypothyroidism and Pituitary Mass 57
Episodic ataxias: Faux or real? 57
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 54
Clinical and genetic characteristics of late-onset Huntington's disease 54
Leukocyte telomere shortening in Huntington's disease. 54
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders 54
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset 53
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial 50
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 50
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia 49
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 48
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias 46
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family 46
Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. 46
Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial 46
Another patient with 12q13 microduplication 46
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 45
Diagnostic genetic testing for huntington's disease 44
The enigma of spinocerebellar ataxia type 6. 42
Recommendations for the predictive genetic test in Huntington's disease. 42
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 42
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)) 41
Characterization of the promoter and new isoformes of CACNA1A gene 40
Beyond consent: ordinary abuses in HD presymptomatic genetic testing in Italy. 40
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients 40
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 40
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. 39
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 39
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes. 38
A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family 38
Does arterial hypertension influence the onset of Huntington's disease? 38
DNA markers in diagnosis of adult dominant polycystic kidney disease 37
Family and molecular data for a fine analysis of age at onset in Huntington disease 37
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 37
Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL A Randomized Controlled Trial 36
ON THE ESTIMATION OF THE AGE AT ONSET DISTRIBUTION IN HUNTINGTONS-CHOREA USING THE EM ALGORITHM 36
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 35
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 35
Esperienza di consulenza genetica e comunicazione diagnostica nelle patologie neuromuscolari. 35
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. 34
Impaired vasoreactivity in mildly disabled CADASIL patients 34
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. 33
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes . 32
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 32
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. 32
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
Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study. 32
Ordering of 44 genetic markers in the 6p22 cytogenetic band. 31
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 31
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci 31
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1 30
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 30
Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. 30
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations. 30
Is the Oxidant/Antioxidant Status Altered in CADASIL Patients? 30
Italian family with cranial cervical dystonia: Clinical and genetic study 30
Clinical and genetic study of a family with Familial Hemiplegic Migraine. 29
CAG repeat instability, cryptic sequence variation and pathogeneticity: Evidence from different loci 29
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 29
Non-DYT1 dystonia in a large Italian family 29
Construction of a YAC contig covering human chromosome 6p22 29
Predictive medicine: an ethical challenge to medical practice 28
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome 27
Use of DNA markers in diagnosis of Adult Dominant Polycystic Kidney Disease 27
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 27
Riluzole in cerebellar ataxia:a randomized, doubleblind, placebo-controlled pilot trial. 27
Suicidal ideation in a European Huntington's disease population 27
Predictive testing for Huntington's disease: Ten years' experience in two Italian centres 26
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 26
A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs 26
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 26
Clusters di mutazioni di CACNA1A non troncanti la proteina che causano Atassia Episodica di tipo 2. 26
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 26
Trinucleotide repeat length instability and age of onset in Huntington's disease 25
Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset. 24
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 24
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 24
Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset 24
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea 24
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 24
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. 24
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice. 24
Primary torsion dystonia: The search for genes is not over 23
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): Clinical, neuroimaging, pathological and genetic study of a large Italian family 23
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I 23
Autosomal Dominant Episodic Ataxia: study of an italian family 21
Phenotype variability of dystonia in monozygotic twins 21
Totale 3.497
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Categoria #
all - tutte 12.153
article - articoli 8.940
book - libri 259
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 473
Totale 21.825
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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
2026/202793 93 0 0 0 0 0 0 0 0 0 0 0
Totale 3.497