CNR Institutional Research Information System

MUGLIA, MARIA
 Distribuzione geografica
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Continente #
AS - Asia 5.051
NA - Nord America 2.177
EU - Europa 915
SA - Sud America 843
AF - Africa 73
OC - Oceania 10
Totale 9.069
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Nazione #
US - Stati Uniti d'America 2.083
SG - Singapore 2.015
CN - Cina 1.098
BR - Brasile 684
HK - Hong Kong 493
VN - Vietnam 421
FR - Francia 322
IT - Italia 234
KR - Corea 214
JP - Giappone 190
ID - Indonesia 115
BD - Bangladesh 81
IN - India 80
TH - Thailandia 74
NL - Olanda 73
GB - Regno Unito 69
PH - Filippine 66
AR - Argentina 61
MY - Malesia 57
DE - Germania 54
CA - Canada 36
IL - Israele 34
MX - Messico 33
EC - Ecuador 30
FI - Finlandia 27
PL - Polonia 20
UA - Ucraina 18
ZA - Sudafrica 18
IQ - Iraq 16
VE - Venezuela 16
PY - Paraguay 15
CO - Colombia 14
TR - Turchia 14
CL - Cile 13
ES - Italia 13
SA - Arabia Saudita 13
MA - Marocco 12
PK - Pakistan 12
SE - Svezia 12
RU - Federazione Russa 11
EG - Egitto 10
AE - Emirati Arabi Uniti 9
IR - Iran 9
UZ - Uzbekistan 9
AT - Austria 8
IE - Irlanda 7
PE - Perù 7
HN - Honduras 6
KE - Kenya 6
OM - Oman 6
AU - Australia 5
BG - Bulgaria 4
JM - Giamaica 4
RO - Romania 4
TN - Tunisia 4
AL - Albania 3
AZ - Azerbaigian 3
BE - Belgio 3
BY - Bielorussia 3
CG - Congo 3
DZ - Algeria 3
EE - Estonia 3
GR - Grecia 3
MD - Moldavia 3
NP - Nepal 3
RE - Reunion 3
SI - Slovenia 3
TT - Trinidad e Tobago 3
TW - Taiwan 3
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
CI - Costa d'Avorio 2
CM - Camerun 2
CZ - Repubblica Ceca 2
HU - Ungheria 2
JO - Giordania 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LT - Lituania 2
LU - Lussemburgo 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
SO - Somalia 2
SV - El Salvador 2
SY - Repubblica araba siriana 2
UY - Uruguay 2
AF - Afghanistan, Repubblica islamica di 1
BF - Burkina Faso 1
BO - Bolivia 1
BS - Bahamas 1
CD - Congo 1
CH - Svizzera 1
CR - Costa Rica 1
CY - Cipro 1
DK - Danimarca 1
ET - Etiopia 1
GE - Georgia 1
GP - Guadalupe 1
GT - Guatemala 1
Totale 9.050
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Città #
Singapore 1.274
Santa Clara 828
Hefei 495
Hong Kong 488
San Jose 265
Lauterbourg 227
Seoul 214
Ashburn 158
Tokyo 156
Beijing 138
Ho Chi Minh City 135
Hanoi 111
Jakarta 84
Los Angeles 77
Bangkok 74
Dallas 59
Manila 55
New York 50
Buffalo 41
São Paulo 41
Kuala Selangor 37
Minamishinagawa 33
Rome 26
Orem 24
Rio de Janeiro 24
Frankfurt am Main 23
Helsinki 21
Naples 21
Bengaluru 19
Council Bluffs 17
Haiphong 17
Milan 15
Belo Horizonte 14
Kuala Lumpur 14
Warsaw 14
Da Nang 13
Montreal 13
Porto Alegre 13
Hải Dương 12
London 12
Phoenix 12
Brasília 11
Campinas 11
Quito 11
Can Tho 10
Guayaquil 10
New Delhi 10
Brooklyn 9
Catania 9
Elk Grove Village 9
Guangzhou 9
Mumbai 9
Ninh Bình 9
Stockholm 9
Denver 8
Goiânia 8
Manchester 8
Mexico City 8
Nuremberg 8
Uberlândia 8
Amsterdam 7
Atlanta 7
Baghdad 7
Bekasi 7
Biên Hòa 7
Charlotte 7
Curitiba 7
Dublin 7
Las Vegas 7
Maceió 7
Memphis 7
Surabaya 7
Taranto 7
Tashkent 7
Thái Bình 7
Asunción 6
Bari 6
Betim 6
Bắc Ninh 6
Chennai 6
Houston 6
Johannesburg 6
Nha Trang 6
Osasco 6
Poplar 6
Quận Một 6
Riyadh 6
Seattle 6
Shanghai 6
Sorocaba 6
Toronto 6
Turin 6
Boardman 5
Cagliari 5
Cairo 5
Caracas 5
Chicago 5
Juiz de Fora 5
Nairobi 5
Nova Iguaçu 5
Totale 5.785
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Nome #
Disposition and metabolism of buspirone and its metabolite 1-(2-pyrimidinyl)-piperazine in the rat. 350
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. 90
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis 85
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 81
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. 78
Targeted NGS-panel can improve the simultaneous identification of CNVs and SNVs in Mendelian diseases 77
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 74
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 72
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies 71
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 68
Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL 67
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 67
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 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 63
New spastin (SPG4) mutations in patients with Hereditary Spastic Paraplegia 63
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 62
Influence of functional polymorphism in MAO-A on neural network responsible of spatial working memory 61
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 60
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B 60
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 59
NOTCH3 gene mutations in twins with CADASIL 58
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 58
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 58
CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy. 57
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 57
ALS and CHARGE syndrome: a clinical and genetic study 56
VarHunter: a platform to process and analyze data from patients with neurological diseases 55
A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT 55
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 54
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 54
NOTCH3 PROTEIN LOCALIZATION IN (SKIN) FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE STUDY 53
Clinical and genetic study of an Italian family linked to SPG26 locus 52
Report of an ALS case associated with a new mutation in the TARDBP gene 52
Gene symbol: NOTCH3 51
NOTCH3 gene analysis in two couples of twins 51
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 51
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 51
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 50
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. 50
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 49
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 48
Genetically-dependent modulation of serotonergic inactivation in the human ventrolateral prefrontal cortex 48
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A 48
Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP 47
Genetically-dependent modulation of serotonergic inactivation in the human prefrontal cortex. 47
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 46
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 46
Clinical and molecular investigation in an unusual Rett Syndrome case 45
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 45
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas 44
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 44
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 44
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 43
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 43
Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia 42
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 42
Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC 42
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 42
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 41
Hereditary spastic paraplegias in Caldera, north west Tuscani:an epydemiological and clinical study 41
Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure). 41
R521C mutation in the FUS gene in a large Italian family 40
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 40
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling 40
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 39
Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls 39
MAO A VNTR polymorphism and variation in human morphology: a VBM study 38
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 38
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 38
Monoamine Oxidase-A Genetic Variations Influence Brain Activity Associated with Inhibitory Control: New Insight into the Neural Correlates of Impulsivity 38
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity 38
Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 37
Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5. 37
Genetic analysis of TARDBP gene in a color of South Italian ALS patients 37
The gender effect in juvenile Huntington disease patients of Italian origin 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
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 36
The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL 36
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 36
Charcot-Marie-Tooth disease tipe 2A associate with two novel MFN2 mutations 36
Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy 35
Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria 35
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 35
Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria 35
SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY 34
EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC 34
Monoamine Oxidase-A genetic variation and the medial temporal lobe response to affective stimuli 34
SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. 34
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis. 34
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 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
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 33
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography 33
Clinical and genetic study of an Italian family with Autosomal Recessive Spastic Paraplegia associated with dysarthria and hearing loss. 33
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 32
Charcot-Marie-Tooth X-linked: five novel mutations in Italian patients 32
Totale 5.150
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Categoria #
all - tutte 31.229
article - articoli 15.620
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.849
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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
2024/20253.337 18 26 285 145 823 66 22 48 65 99 924 816
2025/20265.714 321 561 502 846 884 199 814 330 668 324 136 129
Totale 9.092