CNR Institutional Research Information System

PATITUCCI, ALESSANDRA
 Distribuzione geografica
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Continente #
AS - Asia 4.237
NA - Nord America 2.028
EU - Europa 979
SA - Sud America 749
AF - Africa 55
OC - Oceania 12
Totale 8.060
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Nazione #
US - Stati Uniti d'America 1.916
SG - Singapore 1.740
CN - Cina 1.011
BR - Brasile 622
HK - Hong Kong 402
VN - Vietnam 383
IT - Italia 371
FR - Francia 267
KR - Corea 204
JP - Giappone 202
NL - Olanda 75
IN - India 73
GB - Regno Unito 67
BD - Bangladesh 65
DE - Germania 57
AR - Argentina 49
CA - Canada 42
MX - Messico 33
IL - Israele 32
FI - Finlandia 26
EC - Ecuador 25
ID - Indonesia 21
PL - Polonia 19
UA - Ucraina 18
TR - Turchia 16
VE - Venezuela 14
ZA - Sudafrica 13
IQ - Iraq 12
JM - Giamaica 12
SE - Svezia 12
CO - Colombia 11
ES - Italia 11
SA - Arabia Saudita 11
MA - Marocco 10
CL - Cile 9
EG - Egitto 9
IR - Iran 9
PK - Pakistan 9
AT - Austria 8
PE - Perù 8
PY - Paraguay 8
AU - Australia 7
IE - Irlanda 7
PH - Filippine 7
RU - Federazione Russa 7
HN - Honduras 6
MY - Malesia 6
AE - Emirati Arabi Uniti 5
AZ - Azerbaigian 5
UZ - Uzbekistan 5
BY - Bielorussia 4
CG - Congo 4
CR - Costa Rica 4
SV - El Salvador 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
BG - Bulgaria 3
CH - Svizzera 3
JO - Giordania 3
OM - Oman 3
RO - Romania 3
AL - Albania 2
CI - Costa d'Avorio 2
DZ - Algeria 2
GE - Georgia 2
GR - Grecia 2
KE - Kenya 2
LT - Lituania 2
MD - Moldavia 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
RE - Reunion 2
SI - Slovenia 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TW - Taiwan 2
UY - Uruguay 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BO - Bolivia 1
BS - Bahamas 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EE - Estonia 1
ET - Etiopia 1
GP - Guadalupe 1
GT - Guatemala 1
HR - Croazia 1
IM - Isola di Man 1
KG - Kirghizistan 1
KI - Kiribati 1
KZ - Kazakistan 1
LB - Libano 1
LU - Lussemburgo 1
LY - Libia 1
ML - Mali 1
MZ - Mozambico 1
Totale 8.052
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Città #
Singapore 1.097
Santa Clara 720
Hefei 483
Hong Kong 399
Seoul 204
San Jose 202
Lauterbourg 191
Tokyo 170
Ashburn 141
Ho Chi Minh City 123
Beijing 121
Hanoi 106
Los Angeles 73
São Paulo 43
Rome 41
New York 38
Buffalo 36
Dallas 33
Minamishinagawa 32
Frankfurt am Main 25
Orem 25
Helsinki 22
Milan 21
Naples 21
Taranto 20
Rio de Janeiro 19
Bengaluru 17
Brooklyn 17
Montreal 15
Belo Horizonte 14
Da Nang 14
Haiphong 14
Porto Alegre 14
Warsaw 14
Atlanta 13
Phoenix 13
Bologna 12
Hải Dương 12
Amsterdam 11
Brasília 11
Denver 11
Kingston 11
Chennai 10
Elk Grove Village 10
Guayaquil 10
Houston 10
Stockholm 10
Toronto 10
Council Bluffs 9
Betim 8
Boardman 8
Can Tho 8
Dublin 8
Düsseldorf 8
Guangzhou 8
London 8
Manchester 8
New Delhi 8
Nuremberg 8
Brescia 7
Campinas 7
Catania 7
Curitiba 7
Mexico City 7
Poplar 7
Quito 7
Seattle 7
Thái Bình 7
Charlotte 6
Goiânia 6
Jakarta 6
Maceió 6
Mumbai 6
Nha Trang 6
Ottaviano 6
Porto Seguro 6
Querétaro 6
Riyadh 6
Uberlândia 6
Ankara 5
Baghdad 5
Baku 5
Chicago 5
Florence 5
Johannesburg 5
Manaus 5
Quận Một 5
Recife 5
Shanghai 5
Sorocaba 5
Sydney 5
Vienna 5
Vĩnh Long 5
Wilmington 5
Bari 4
Birmingham 4
Buenos Aires 4
Bắc Ninh 4
Cagliari 4
Cairo 4
Totale 4.996
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Nome #
Cibo e invecchiamento attivo. Una riflessione condivisa per raccomandazioni di policy inclusive 133
Percezione, identità e senso di appartenenza 118
Social agriculture for life quality and environmental sustainability 114
L’AGRICOLTURA SOCIALE PER LA QUALITÀ DELLA VITA E LA SOSTENIBILITÀ AMBIENTALE 100
L’Agricoltura sociale per la qualità della vita e la sostenibilità ambientale 94
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. 92
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 85
Plants in Menstrual Diseases: A Systematic Study from Italian Folk Medicine on Current Approaches 84
A review of the antimicrobial potential of herbal drugs used in popular Italian medicine (1850s-1950s) to treat bacterial skin diseases 82
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments 80
Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. 79
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 73
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 69
Una piattaforma array CGH custom per l'identificazione di CNV in pazienti affetti da Sindromi Neurocutanee ed altri disordini neurologici: validazione della regione d'interesse per la Neurofibromatosi di tipo 1 68
Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL 67
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 67
Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A 65
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 65
New spastin (SPG4) mutations in patients with Hereditary Spastic Paraplegia 63
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 63
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B 63
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 60
Characterization of Histone post-translational modifications using a Top-Down, label-free, LC- MALDI-TOF Mass Spectrometry approach. 60
NOTCH3 gene mutations in twins with CADASIL 59
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 59
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 59
CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy. 58
Awareness, Identity, and Place Attachment Among Young People Living in a Calabrian Reclamation Landscape 58
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 57
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 55
Gene symbol: NOTCH3 53
NOTCH3 PROTEIN LOCALIZATION IN (SKIN) FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE STUDY 53
Il paesaggio della bonifica della piana di Sibari: note preliminari 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
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 52
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A 49
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 48
Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP 47
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 47
Identificazione di una nuova mutazione nel sito di splicing del gene Sbf2 responsabile di Charcot-Marie-Tooth autosomica recessiva (CMT4B2) 46
Peripheral mRNA expression of brain-derived neurotrophic factor Val66Met polymorphism in patients with relapsing-remitting multiple sclerosis 46
Clinical and molecular investigation in an unusual Rett Syndrome case 45
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 45
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 45
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 44
A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) 44
Brain-Derived Neurotrophic Factor Val66Met polymorphism and peripheral mrna expression in patients with Relapsing Remitting Multiple Sclerosis (RRMS). 44
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 44
Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia 43
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
L’Agricoltura sociale per la qualità della vita e la sostenibilità ambientale: uno studio di caso. 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
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 41
Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls 41
R521C mutation in the FUS gene in a large Italian family 40
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 40
Genetic analysis of TARDBP gene in a color of South Italian ALS patients 40
Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 39
PERIPHERAL MRNA EXPRESSION OF BRAIN-DERIVED NEUROTROPHIC FACTOR VAL66MET POLYMORPHISM IN PATIENTS WITH RELAPSING-REMITTING MULTIPLE SCLEROSIS (RRMS). 38
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 38
Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria 37
Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. 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
Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5. 37
NOTCH3 PROTEIN LOCALIZATION IN SKIN FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE MICROSCOPY STUDY 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
Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy 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
Caratterizzazione dei portatori sani SMA con Real time PCR 36
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 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
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
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. 34
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. 33
CADASIL: molecular screening of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 33
A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy 32
A novel SPG3A mutation in an Italian patient with Hereditary Spastic Paraplegia 32
Abnormally High Level of SOD1 mRNA in a patient with Amyotrophic Lateral Sclerosis 32
A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy 32
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis 32
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 32
NOTCH3 gene mutations and mtDNA variations 32
DISTINGUISHING APPARENTLY SPORADIC CADASIL FROM OTHER LEUCOENCEPHALOPATHIES:THE ROLE OF MAGNETIC RESONANCE IMAGING IN THE NOTCH3 GENE SCREENING 31
A Novel Notch3 Gene Mutation In A Patient With Cadasil From Southern Italy 31
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 31
Totale 5.020
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Categoria #
all - tutte 27.485
article - articoli 11.135
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 191
Totale 38.811
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202458 0 0 0 0 0 0 0 0 9 7 21 21
2024/20253.027 21 24 231 129 725 72 22 57 101 99 828 718
2025/20264.883 303 514 441 839 758 167 724 279 349 274 137 98
2026/2027172 172 0 0 0 0 0 0 0 0 0 0 0
Totale 8.140