CNR Institutional Research Information System

MAZZEI, ROSALUCIA
 Distribuzione geografica
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Continente #
AS - Asia 4.889
NA - Nord America 2.345
EU - Europa 984
SA - Sud America 869
AF - Africa 67
Continente sconosciuto - Info sul continente non disponibili 54
OC - Oceania 11
Totale 9.219
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Nazione #
US - Stati Uniti d'America 2.220
SG - Singapore 2.046
CN - Cina 1.161
BR - Brasile 712
HK - Hong Kong 456
VN - Vietnam 426
FR - Francia 317
IT - Italia 291
JP - Giappone 238
KR - Corea 235
IN - India 77
DE - Germania 74
NL - Olanda 72
BD - Bangladesh 62
AR - Argentina 59
GB - Regno Unito 59
CA - Canada 48
IL - Israele 37
MX - Messico 37
EC - Ecuador 31
FI - Finlandia 27
ID - Indonesia 26
PL - Polonia 24
UA - Ucraina 23
TR - Turchia 22
VE - Venezuela 18
IQ - Iraq 16
CO - Colombia 14
SA - Arabia Saudita 14
ZA - Sudafrica 14
AT - Austria 13
PY - Paraguay 13
ES - Italia 12
PK - Pakistan 12
SE - Svezia 12
CL - Cile 11
EG - Egitto 11
RU - Federazione Russa 11
JM - Giamaica 10
HN - Honduras 9
MA - Marocco 9
MY - Malesia 8
AZ - Azerbaigian 7
PE - Perù 7
PH - Filippine 7
TN - Tunisia 7
AU - Australia 6
IE - Irlanda 6
OM - Oman 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
CR - Costa Rica 4
JO - Giordania 4
KE - Kenya 4
MD - Moldavia 4
NP - Nepal 4
SN - Senegal 4
TT - Trinidad e Tobago 4
BY - Bielorussia 3
CZ - Repubblica Ceca 3
DZ - Algeria 3
GR - Grecia 3
LT - Lituania 3
LU - Lussemburgo 3
RO - Romania 3
SV - El Salvador 3
TW - Taiwan 3
AL - Albania 2
BG - Bulgaria 2
BO - Bolivia 2
CG - Congo 2
EE - Estonia 2
ET - Etiopia 2
GE - Georgia 2
GT - Guatemala 2
HU - Ungheria 2
LV - Lettonia 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
RE - Reunion 2
SI - Slovenia 2
SO - Somalia 2
SY - Repubblica araba siriana 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BS - Bahamas 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CM - Camerun 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GP - Guadalupe 1
HR - Croazia 1
IR - Iran 1
Totale 9.147
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Città #
Singapore 1.289
Santa Clara 843
Hefei 543
Hong Kong 452
San Jose 279
Seoul 235
Lauterbourg 229
Tokyo 201
Beijing 152
Ashburn 146
Ho Chi Minh City 133
Hanoi 126
Los Angeles 72
Dallas 50
São Paulo 43
Buffalo 41
Minamishinagawa 37
Frankfurt am Main 35
New York 33
Rome 24
Bengaluru 22
Council Bluffs 22
Helsinki 22
Orem 22
Rio de Janeiro 22
Atlanta 19
Phoenix 19
Naples 18
Warsaw 18
Milan 17
Haiphong 16
Ottaviano 16
Brooklyn 14
Da Nang 14
Montreal 14
Belo Horizonte 13
Amsterdam 12
Guayaquil 12
Porto Alegre 12
Toronto 12
Brasília 11
Curitiba 10
Denver 10
Guangzhou 10
Hải Dương 10
Taranto 10
Brescia 9
Campinas 9
Dhaka 9
Dublin 9
Goiânia 9
Nuremberg 9
Bari 8
Betim 8
Boardman 8
Düsseldorf 8
Elk Grove Village 8
New Delhi 8
Quito 8
Riyadh 8
Sorocaba 8
Stockholm 8
Boston 7
Buenos Aires 7
Can Tho 7
Kingston 7
Maceió 7
Manchester 7
Mumbai 7
Quận Một 7
Shanghai 7
Asunción 6
Baku 6
Bắc Ninh 6
Chicago 6
Houston 6
Mexico City 6
Nha Trang 6
Ninh Bình 6
Porto Seguro 6
Portsmouth 6
Querétaro 6
Recife 6
San Francisco 6
Seattle 6
Vienna 6
Baghdad 5
Biên Hòa 5
Caxias do Sul 5
Chennai 5
Fort Lauderdale 5
Jakarta 5
Johannesburg 5
Joinville 5
London 5
Newark 5
Nova Iguaçu 5
Philadelphia 5
Piracicaba 5
Portland 5
Totale 5.717
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Nome #
Percezione, identità e senso di appartenenza 120
LE PIANTE OFFICINALI NELLA CULTURA POPOLARE E SCIENTIFICA 99
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis 86
Plants in Menstrual Diseases: A Systematic Study from Italian Folk Medicine on Current Approaches 85
A review of the antimicrobial potential of herbal drugs used in popular Italian medicine (1850s-1950s) to treat bacterial skin diseases 84
Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. 80
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments 80
Il paesaggio agrumicolo delle “Terre di bonifica”. Passato, presente e futuro 79
Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. 77
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 73
Gene Symbol: MECP2. Disease: Rett Syndrome. 69
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 69
Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL 67
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 67
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 66
Case Conference 2023 SuperscienceMe - Researchers at School activities 66
Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A 65
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 63
New spastin (SPG4) mutations in patients with Hereditary Spastic Paraplegia 63
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 63
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 63
Notch3 protein expression in skin fibroblasts from CADASIL patients 62
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 60
NOTCH3 gene mutations in twins with CADASIL 59
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 59
Awareness, Identity, and Place Attachment Among Young People Living in a Calabrian Reclamation Landscape 59
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 58
The spectrum of ROBO3 mutations in Horizontal Gaze Palsy With Progressive Scoliosis: an update 57
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 56
Report of an ALS case associated with a new mutation in the TARDBP gene 56
Il paesaggio della bonifica della piana di Sibari: note preliminari 55
Gene symbol: NOTCH3 53
NOTCH3 PROTEIN LOCALIZATION IN (SKIN) FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE STUDY 53
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 53
NOTCH3 gene analysis in two couples of twins 52
Clinical and genetic study of an Italian family linked to SPG26 locus 52
Italian folk plant-based remedies to heal headache (XIX-XX century) 49
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 49
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 48
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 48
Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia 47
Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP 47
A large Italian family with R521C mutation in the FUS/TLS gene 47
Clinical and molecular investigation in an unusual Rett Syndrome case 46
Identificazione di una nuova mutazione nel sito di splicing del gene Sbf2 responsabile di Charcot-Marie-Tooth autosomica recessiva (CMT4B2) 46
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? 46
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 45
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 45
Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria 45
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 45
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 45
A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) 44
From Hippocrates to Italian Traditional Medicine: Ethnopharmacological Evidence for a Potential Pharmacological Perspective in the Management of Polycystic Ovary Syndrome 43
Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC 43
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 42
Silent celiac disease in patients with childhood localization-related epilepsies. 42
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 42
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 42
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 42
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 42
Genetic polymorphism at the phosphoglucomutase 1 (PGM1) locus in Cosenza province. (Calabria-southern Italy) 42
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 41
Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls 41
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene. 41
R521C mutation in the FUS gene in a large Italian family 40
Genetic analysis of TARDBP gene in a color of South Italian ALS patients 40
Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. 39
Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 39
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 39
Spatiotemporal dynamics and drivers of an Italian reclamation landscape: the Piana di Sibari (Calabria, Italy) 39
NOTCH3 PROTEIN LOCALIZATION IN SKIN FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE MICROSCOPY STUDY 38
Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria 37
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 37
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 37
XbaI -RFLP of Apo B gene in a sample group from South Italy 37
Caratterizzazione dei portatori sani SMA con Real time PCR 37
Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5. 37
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 37
Charcot-Marie-Tooth disease tipe 2A associate with two novel MFN2 mutations 37
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL 37
Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy 36
The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL 36
EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC 36
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography 36
Copy number variations and stroke 36
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 36
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case 36
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. 35
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 35
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis. 35
L-2-Hydroxyglutaric aciduria: a case report. 35
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 35
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. 35
Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria 35
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 34
Charcot-Marie-Tooth X-linked: five novel mutations in Italian patients 34
SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY 34
SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. 34
Studio clinico e genetico di una famiglia italiana affetta da una nuova forma di Paraparesi Spastica autosomica dominante complicata 34
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. 34
Totale 4.981
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Categoria #
all - tutte 32.895
article - articoli 15.457
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 352
Totale 48.704
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202443 0 0 0 0 0 0 0 0 7 5 17 14
2024/20253.495 24 19 283 148 846 85 31 63 76 96 962 862
2025/20265.429 337 558 497 914 870 174 810 326 439 310 126 68
2026/2027252 239 13 0 0 0 0 0 0 0 0 0 0
Totale 9.219