CNR Institutional Research Information System

SPROVIERI, TERESA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 656
AS - Asia 337
EU - Europa 97
AF - Africa 2
SA - Sud America 1
Totale 1.093
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 655
SG - Singapore 309
IT - Italia 58
FI - Finlandia 20
CN - Cina 11
DE - Germania 5
IR - Iran 4
KR - Corea 4
NL - Olanda 3
FR - Francia 2
HK - Hong Kong 2
LU - Lussemburgo 2
PH - Filippine 2
AL - Albania 1
AT - Austria 1
CA - Canada 1
CZ - Repubblica Ceca 1
GB - Regno Unito 1
GR - Grecia 1
IL - Israele 1
KG - Kirghizistan 1
LY - Libia 1
PE - Perù 1
PK - Pakistan 1
PL - Polonia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
ZA - Sudafrica 1
Totale 1.093
Salva come PNG Salva come JPEG
Città #
Santa Clara 574
Singapore 214
Helsinki 20
Milan 10
Naples 7
Anoia Superiore 4
Bari 4
Catania 4
Falkenstein 4
Seoul 4
Amsterdam 3
Catanzaro 3
Grimaldi 3
Los Angeles 3
Phoenix 3
Rende 3
Adrano 2
Boardman 2
Bologna 2
Canelli 2
Capaccio 2
Cavallino 2
Hong Kong 2
Luxembourg 2
Newark 2
Porcari 2
Alliston 1
Ashburn 1
Athens 1
Bishkek 1
Bratislava 1
Centurion 1
Cittaducale 1
Council Bluffs 1
Guangzhou 1
Islamabad 1
Lima region 1
Manila 1
Martinsville 1
Pontedera 1
Prague 1
Reston 1
Riyadh 1
Tel Aviv 1
Tirana 1
Tripoli 1
Vienna 1
Warsaw 1
Totale 905
Salva come PNG Salva come JPEG
Nome #
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 30
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis 20
Proteomic profiling of cerebrospinal fluid in Creutzfeldt-Jakob disease 17
Relazione tecnica sui risultati dei monitoraggi del Mercurio in aria ambiente e nelle deposizioni 17
The spectrum of ROBO3 mutations in Horizontal Gaze Palsy With Progressive Scoliosis: an update 15
Mercury toxicity and amyotrophic lateral sclerosis 15
Contribution of Cerebrospinal Fluid Thymosin beta 4 Levels to the Clinical Differentiation of Creutzfeldt-Jakob Disease 14
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 14
Quantification of thymosin beta(4) in human cerebrospinal fluid using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry 14
A novel S379A TARDBP mutation associated to late-onset sporadic ALS 14
Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria 13
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) 12
null 12
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 12
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? 12
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL 12
Creutzfeldt-Jakob disease and other dementia may be discriminated by Thymosin beta 4 levels in cerebrospinal fluid using MALDI-TOF MS. 12
ALS and CHARGE syndrome: a clinical and genetic study 12
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 12
Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. 11
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 11
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 11
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy 11
Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria 11
Identification of differently expressed ion signals by MALDI-TOF MS PROFILING in subsets of molecularly defined Binet stage A Chronic Lymphocytic Leukemia(CLL). 11
Contribution of Cerebrospinal fluid Thymosin ?4 levels to the clinical differentiation of Creutzfeldt-Jakob disease. 11
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 11
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 11
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 10
Extended polymorphic and mutational analysis of the NOTCH3 gene in patients affected by leukoencephalopathy 10
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 10
Abnormally High Level of SOD1 mRNA in a patient with Amyotrophic Lateral Sclerosis 10
A label-free quantitative application of MALDI-TOF-MS to measure Thymosin beta 4 levels in human cerebrospinal fluid 10
L-2-Hydroxyglutaric aciduria: clinical, genetic and neuroradiological findings in an Italian patient 10
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 10
L-2-Hydroxyglutaric aciduria: a case report. 10
Clinical, genetic and MRI findings in a patient affected by L-2-Hydroxyglutaric aciduria 10
Thymosin beta 4 levels in cerebrospinal fluid: a new surrogate biomarker to discriminate Creutzfeldt-Jakob disease from other dementia 10
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 10
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL. 10
Molecular evaluation of the NUP98/RAP1GDS1 gene frequency in adults with T-acute lymphoblastic leukemia 9
Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A 9
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 9
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 9
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. 9
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia 9
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 9
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography 9
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 9
Rare pathogenic CADASIL-causing mutation on exon 22 of the NOTCH3 gene disclosed for the first time in an Italian patient 9
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 9
Comparison of different techniques in detecting CMT1A/HNPP duplication/deletion 9
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach 9
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 8
Charcot-Marie-Tooth X-linked: five novel mutations in Italian patients 8
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 8
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 8
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER 8
Absence of heart abnormalities in subjects not carryng large NF1 gene deletions 8
Twenty novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1(NF1) gene in southern Italian NF1 patients 8
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy 8
Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosis Type 1 (NF1) gene in Southern Italian NF1 Patients 8
A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy 8
Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis. 8
Clinical and genetic study of an Italian Family with a new form of Autosomal Dominant Complicated Spastic Paraplegia 8
Studio clinico e genetico di una famiglia italiana affetta da una nuova forma di Paraparesi Spastica autosomica dominante complicata 8
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 8
Exclusion of trinucleotide repeat expansion in JPH3 gene causing disease in Italian patients with Huntington-like phenotype 8
First Evidence of a Pathogenic Insertion in the NOTCH3 Gene Causing CADASIL 8
Gene conversion events in adult-onset spinal muscular atrophy. 8
Gene Symbol: MECP2. Disease: Rett Syndrome. 7
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 7
A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy 7
The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL 7
Novel Mecp2 Mutations Identified In Patients From Southern Italy With Rett syndrome 7
Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 7
L-2-Hydroxyglutaric aciduria: clinical, genetic and MRI findings in an Italian patient 7
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 6
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 6
A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) 6
SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY 6
Contribution of Cerebrospinal Fluid Thymosin ?4 Levels to the Clinical Differentiation of Creutzfeldt-Jakob Disease 6
Eight novel mutations revealed by means of DHPLC mutational analysis of the Neurofibromatosis type I (NF1) gene in NF1 patients from Sicily and Calabria (Southern Italy) 6
Phenotypic Variation of the Ser78Leu P0 Mutation in Five Sicilian Families 6
Identification of four novel pathogenic mutations in patients from Southern Italy with CADASIL 6
Neurofibromatosis type2 (NF2) in children under 1 year of age: a clinical and molecular study 6
Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5. 6
Phenotypic variation of the Ser78Leu P0 mutation in five Sicilian Families 6
SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. 6
Neurofibromatosis Type 2 (Nf2) In Children Under 1 Year Of Age: A Clinical And Molecular Study 6
Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy 6
Mutational analysis in NF1 patients screened for heart abnormalities 6
Mutational analysis in NF1 patients screened for heart abnormalities 6
Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosys type 1 (NF1) gene in unselected southern Italian NF1 patients 6
Molecular testing in Neurofibromatosis type 1 (NF1): Mutational spectrum, patterns of recurrence and correlation with clinical features in Italy 6
Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy 6
Could the expression of Jagged1 gene mutations play a role in modulatine a CADASIL-like phenotype? 6
SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA 6
Eight novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1 (NF1) gene in southern Italian NF1 patients 6
A novel Notch3 gene mutation in a patient with CADASIL from Southern Italy 6
Totale 938
Salva come PNG Salva come JPEG
Categoria #
all - tutte 5.762
article - articoli 1.993
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 51
Totale 7.806
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202422 0 0 0 0 0 0 0 0 4 0 11 7
2024/20251.106 14 13 205 96 567 36 63 61 51 0 0 0
Totale 1.128