CNR Institutional Research Information System

MUGLIA, MARIA
 Distribuzione geografica
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Continente #
AS - Asia 5.125
NA - Nord America 3.121
EU - Europa 1.066
SA - Sud America 903
AF - Africa 81
Continente sconosciuto - Info sul continente non disponibili 25
OC - Oceania 10
Totale 10.331
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Nazione #
US - Stati Uniti d'America 2.968
SG - Singapore 2.012
CN - Cina 1.096
BR - Brasile 709
HK - Hong Kong 498
VN - Vietnam 434
IT - Italia 348
FR - Francia 328
KR - Corea 214
JP - Giappone 188
ID - Indonesia 124
BD - Bangladesh 106
GB - Regno Unito 87
TH - Thailandia 83
IN - India 81
NL - Olanda 77
PH - Filippine 70
MY - Malesia 67
AR - Argentina 61
CA - Canada 56
DE - Germania 56
EC - Ecuador 38
CO - Colombia 34
IL - Israele 34
MX - Messico 34
FI - Finlandia 27
UA - Ucraina 22
VE - Venezuela 21
PL - Polonia 20
ZA - Sudafrica 18
SA - Arabia Saudita 16
TR - Turchia 16
IQ - Iraq 15
JM - Giamaica 15
PY - Paraguay 15
CL - Cile 13
ES - Italia 13
MA - Marocco 12
PK - Pakistan 12
SE - Svezia 12
EG - Egitto 11
NI - Nicaragua 11
RU - Federazione Russa 11
AE - Emirati Arabi Uniti 9
HN - Honduras 9
IR - Iran 9
UZ - Uzbekistan 9
AT - Austria 8
IE - Irlanda 7
KE - Kenya 7
PE - Perù 7
GT - Guatemala 6
OM - Oman 6
AU - Australia 5
BG - Bulgaria 5
SC - Seychelles 5
TT - Trinidad e Tobago 5
BB - Barbados 4
BY - Bielorussia 4
CG - Congo 4
CR - Costa Rica 4
RO - Romania 4
SV - El Salvador 4
TN - Tunisia 4
AL - Albania 3
AM - Armenia 3
AZ - Azerbaigian 3
BE - Belgio 3
BO - Bolivia 3
DZ - Algeria 3
EE - Estonia 3
GR - Grecia 3
MD - Moldavia 3
NP - Nepal 3
RE - Reunion 3
SI - Slovenia 3
TW - Taiwan 3
BA - Bosnia-Erzegovina 2
CI - Costa d'Avorio 2
CM - Camerun 2
CW - ???statistics.table.value.countryCode.CW??? 2
CZ - Repubblica Ceca 2
HU - Ungheria 2
JO - Giordania 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LT - Lituania 2
LU - Lussemburgo 2
NZ - Nuova Zelanda 2
SO - Somalia 2
SY - Repubblica araba siriana 2
UY - Uruguay 2
AF - Afghanistan, Repubblica islamica di 1
BF - Burkina Faso 1
BS - Bahamas 1
CD - Congo 1
CH - Svizzera 1
CY - Cipro 1
DK - Danimarca 1
ET - Etiopia 1
Totale 10.285
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Città #
Singapore 1.273
Santa Clara 839
Hefei 495
Hong Kong 490
San Jose 417
Lauterbourg 226
Seoul 214
Ashburn 181
Tokyo 154
Ho Chi Minh City 140
Beijing 138
Hanoi 116
Los Angeles 88
Jakarta 84
Bangkok 78
Dallas 62
New York 58
Manila 55
Rome 46
Buffalo 41
São Paulo 41
Kuala Selangor 37
Milan 37
Minamishinagawa 33
Council Bluffs 32
Orem 24
Rio de Janeiro 24
Frankfurt am Main 23
Naples 23
Kuala Lumpur 22
Helsinki 21
Brooklyn 20
Bengaluru 19
Brasília 19
Haiphong 17
Phoenix 17
Atlanta 16
Montreal 16
Houston 15
Philadelphia 15
Belo Horizonte 14
Da Nang 14
Guayaquil 14
London 14
Quito 14
Warsaw 14
Kingston 13
Porto Alegre 13
San Antonio 13
The Bronx 13
Hải Dương 12
Campinas 11
Charlotte 11
Chicago 11
Las Vegas 11
Managua 11
Can Tho 10
Memphis 10
New Delhi 10
Queens 10
Catania 9
Elk Grove Village 9
Guangzhou 9
Manchester 9
Miami 9
Mumbai 9
Newark 9
Ninh Bình 9
Stockholm 9
Bologna 8
Cincinnati 8
Denver 8
Goiânia 8
Mexico City 8
Nuremberg 8
Seattle 8
Turin 8
Uberlândia 8
Washington 8
Amsterdam 7
Baltimore 7
Bari 7
Bekasi 7
Biên Hòa 7
Bogotá 7
Boston 7
Curitiba 7
Dhaka 7
Dublin 7
Jacksonville 7
Maceió 7
Osasco 7
Riyadh 7
Surabaya 7
Taranto 7
Tashkent 7
Thái Bình 7
Toronto 7
Asunción 6
Baghdad 6
Totale 6.215
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Nome #
Disposition and metabolism of buspirone and its metabolite 1-(2-pyrimidinyl)-piperazine in the rat. 355
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. 100
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis 87
Targeted NGS-panel can improve the simultaneous identification of CNVs and SNVs in Mendelian diseases 87
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 87
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments 84
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 84
Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. 83
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 80
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 74
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies 74
Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL 72
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 72
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 71
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 71
Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A 69
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 69
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 69
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 69
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B 67
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 66
A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT 65
New spastin (SPG4) mutations in patients with Hereditary Spastic Paraplegia 64
Influence of functional polymorphism in MAO-A on neural network responsible of spatial working memory 64
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 64
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 63
NOTCH3 gene mutations in twins with CADASIL 62
CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy. 62
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 62
VarHunter: a platform to process and analyze data from patients with neurological diseases 62
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 62
ALS and CHARGE syndrome: a clinical and genetic study 62
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. 61
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 60
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. 60
Report of an ALS case associated with a new mutation in the TARDBP gene 59
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 58
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 58
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A 58
NOTCH3 PROTEIN LOCALIZATION IN (SKIN) FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE STUDY 57
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 57
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 56
Clinical and genetic study of an Italian family linked to SPG26 locus 55
Gene symbol: NOTCH3 54
NOTCH3 gene analysis in two couples of twins 54
Genetically-dependent modulation of serotonergic inactivation in the human ventrolateral prefrontal cortex 54
Genetically-dependent modulation of serotonergic inactivation in the human prefrontal cortex. 54
Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP 53
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling 53
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas 52
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 52
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 51
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 50
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 49
Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia 48
Clinical and molecular investigation in an unusual Rett Syndrome case 48
Monoamine Oxidase-A Genetic Variations Influence Brain Activity Associated with Inhibitory Control: New Insight into the Neural Correlates of Impulsivity 48
Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC 48
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 48
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 47
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 47
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity 47
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 46
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 46
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 46
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 46
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 46
R521C mutation in the FUS gene in a large Italian family 45
Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls 45
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 44
Hereditary spastic paraplegias in Caldera, north west Tuscani:an epydemiological and clinical study 44
Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure). 44
Genetic analysis of TARDBP gene in a color of South Italian ALS patients 44
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 44
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 44
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 43
Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 42
EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC 42
Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria 41
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 41
The gender effect in juvenile Huntington disease patients of Italian origin 41
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 41
NOTCH3 PROTEIN LOCALIZATION IN SKIN FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE MICROSCOPY STUDY 41
Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy 40
MAO A VNTR polymorphism and variation in human morphology: a VBM study 40
The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL 40
Charcot-Marie-Tooth disease tipe 2A associate with two novel MFN2 mutations 40
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 39
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 39
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography 39
Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5. 39
CADASIL: molecular screening of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 39
SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. 39
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. 39
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 38
Monoamine Oxidase-A genetic variation and the medial temporal lobe response to affective stimuli 38
Clinical and genetic study of an Italian family with Autosomal Recessive Spastic Paraplegia associated with dysarthria and hearing loss. 38
SMN1 gene copy number analyses for SMA healthy carriers in Italian population 38
Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria 38
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis 38
Totale 5.755
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Categoria #
all - tutte 36.343
article - articoli 18.349
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 54.692
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202441 0 0 0 0 0 0 0 0 4 0 27 10
2024/20253.328 18 26 284 145 822 66 22 48 65 99 921 812
2025/20265.695 321 560 500 843 878 199 811 328 666 324 136 129
2026/20271.267 281 280 706 0 0 0 0 0 0 0 0 0
Totale 10.331