CNR Institutional Research Information System

SPROVIERI, TERESA
 Distribuzione geografica
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Continente #
NA - Nord America 610
AS - Asia 264
EU - Europa 46
AF - Africa 1
Totale 921
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Nazione #
US - Stati Uniti d'America 610
SG - Singapore 251
IT - Italia 24
FI - Finlandia 16
CN - Cina 10
DE - Germania 4
KR - Corea 3
NL - Olanda 2
LY - Libia 1
Totale 921
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Città #
Santa Clara 570
Singapore 196
Helsinki 16
Catania 4
Falkenstein 4
Naples 4
Phoenix 3
Rende 3
Seoul 3
Amsterdam 2
Boardman 2
Canelli 2
Capaccio 2
Milan 2
Porcari 2
Cittaducale 1
Council Bluffs 1
Guangzhou 1
Martinsville 1
Pontedera 1
Tripoli 1
Totale 821
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Nome #
Proteomic profiling of cerebrospinal fluid in Creutzfeldt-Jakob disease 15
The spectrum of ROBO3 mutations in Horizontal Gaze Palsy With Progressive Scoliosis: an update 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
Contribution of Cerebrospinal Fluid Thymosin beta 4 Levels to the Clinical Differentiation of Creutzfeldt-Jakob Disease 11
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 11
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P) 11
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 11
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 11
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 10
Quantification of thymosin beta(4) in human cerebrospinal fluid using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry 10
Abnormally High Level of SOD1 mRNA in a patient with Amyotrophic Lateral Sclerosis 10
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis 10
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 10
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 10
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 9
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) 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
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 9
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia 9
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy 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
L-2-Hydroxyglutaric aciduria: a case report. 9
Clinical, genetic and MRI findings in a patient affected by L-2-Hydroxyglutaric aciduria 9
Comparison of different techniques in detecting CMT1A/HNPP duplication/deletion 9
Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria 9
A novel S379A TARDBP mutation associated to late-onset sporadic ALS 9
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 9
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL 9
Creutzfeldt-Jakob disease and other dementia may be discriminated by Thymosin beta 4 levels in cerebrospinal fluid using MALDI-TOF MS. 9
ALS and CHARGE syndrome: a clinical and genetic study 9
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL. 9
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 9
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 8
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
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
Identification of differently expressed ion signals by MALDI-TOF MS PROFILING in subsets of molecularly defined Binet stage A Chronic Lymphocytic Leukemia(CLL). 8
Contribution of Cerebrospinal fluid Thymosin ?4 levels to the clinical differentiation of Creutzfeldt-Jakob disease. 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
A label-free quantitative application of MALDI-TOF-MS to measure Thymosin beta 4 levels in human cerebrospinal fluid 8
L-2-Hydroxyglutaric aciduria: clinical, genetic and neuroradiological findings in an Italian patient 8
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 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
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? 8
Thymosin beta 4 levels in cerebrospinal fluid: a new surrogate biomarker to discriminate Creutzfeldt-Jakob disease from other dementia 8
First Evidence of a Pathogenic Insertion in the NOTCH3 Gene Causing CADASIL 8
Gene conversion events in adult-onset spinal muscular atrophy. 8
Molecular evaluation of the NUP98/RAP1GDS1 gene frequency in adults with T-acute lymphoblastic leukemia 7
Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A 7
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
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. 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
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER 7
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 7
L-2-Hydroxyglutaric aciduria: clinical, genetic and MRI findings in an Italian patient 7
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 6
SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY 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
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL 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
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 6
Nuove Mutazioni Del Gene Mecp2 Identificate In Pazienti Affetti Da Sindrome Di Rett Provenienti Dall italia Meridionale 6
Splice-Junction Mutation In Sbf2 Gene Causes Autosomal Recessive Charcot-Marie-Tooth Disease (CMT4B2) In A Family from Southern Italy 6
A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia 6
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 6
Mutational Screening of the Notch3 Gene in Patients from Southern Italy Affected by CADASIL: Identification of Four Novel Pathogenic Mutations 6
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach 6
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 6
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 5
Totale 794
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Categoria #
all - tutte 4.207
article - articoli 1.472
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 40
Totale 5.719
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202421 0 0 0 0 0 0 0 0 4 0 10 7
2024/2025903 14 13 191 88 559 38 0 0 0 0 0 0
Totale 924