Author

Teresa Esposito

Istituto di Genetica e Biofisica CNR - Cited by 3,486 - Genetica Umana - Neurobiologia

Biography

Teresa Esposito, Seconda Università degli Studi di Napoli, Servizio di Dietetica. Research interest: Genetics,Molecular Genetics,DNA Sequencing,Genetic Analysis,Genomics,Mutation Analysis,Gene Expression, DNA Sequence Analysis,Human Genetics.  
Title
Cited by
Year
ZNF687 mutations in severe Paget disease of bone associated with giant cell tumor
ZNF7 mutations in severe Paget disease of bone associated with giant cell tumorG Divisato, D Formicola, T Esposito, D Merlotti, L Pazzaglia, A Del Fattore, ...The American Journal of Human Genetics 98 (2), 275-286, 2016201
68
2016
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
T Esposito, S Sampaolo, G Limongelli, A Varone, D Formicola, D Diodato, ...Orphanet journal of rare diseases 8, 1-13, 2013201
47
2013
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix
S Sampaolo, F Napolitano, A Tirozzi, MG Reccia, L Lombardi, O Farina, ...Journal of Medical Genetics 54 (10), 710-720, 2017201
37
2017
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene
T Esposito, RA Lea, BH Maher, D Moses, HC Cox, S Magliocca, A Angius, ...Human Molecular Genetics 22 (18), 3654-3666, 2013201
37
2013
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function
A Goode, JE Long, B Shaw, SH Ralston, MR Visconti, F Gianfrancesco, ...Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (7), 992 …, 2014201
33
2014
Identification of sixteen novel candidate genes for late onset Parkinson’s disease
A Gialluisi, MG Reccia, N Modugno, T Nutile, A Lombardi, ...Molecular neurodegeneration 16 (1), 1-18, 2021202
30
2021
Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation
F Napolitano, V Di Iorio, F Testa, A Tirozzi, MG Reccia, L Lombardi, ...Clinical Genetics 93 (5), 982-991, 2018201
26
2018
Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy
A Pascarella, C Terracciano, O Farina, L Lombardi, T Esposito, ...Journal of Cellular Physiology 233 (8), 5829-5837, 181
20
2018
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences
G Divisato, FS Di Carlo, L Pazzaglia, R Rizzo, DA Coviello, MS Benassi, ...Oncotarget 8 (38), 63121, 2017201
18
2017
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
S Sampaolo, T Esposito, O Farina, D Formicola, D Diodato, ...Orphanet journal of rare diseases 8 (1), 1-11, 2013201
16
2013
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in …
F Scotto di Carlo, G Divisato, M Iacoangeli, T Esposito, F GianfrancescoBMC cancer 18 (1), 1-10, 2018201
15
2018
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers
D Rendina, G De Filippo, F Gianfrancesco, R Muscariello, ...Journal of Nephrology 30, 411-418, 2017201
15
2017
First study on the peptidergic innervation of the brain superior sagittal sinus in humans
S Sampaolo, G Liguori, A Vittoria, F Napolitano, L Lombardi, J Figols, ...Neuropeptides 65, 45-55, 2017201
14
2017
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease
S Sampaolo, T Esposito, F Gianfrancesco, F Napolitano, L Lombardi, ...Neuromuscular Disorders 25 (3), 247-252, 2015201
14
2015
Whole Exome Sequencing study of Parkinson Disease and related endophenotypes in the Italian Population
A Gialluisi, MG Reccia, A Tirozzi, T Nutile, A Lombardi, C De Sanctis, ...Frontiers in Neurology 10, 1362, 2020202
11
2020
Early posterior vitreous detachment is associated with LAMA5 dominant mutation
F Napolitano, V Di Iorio, G Di Iorio, MAB Melone, F Gianfrancesco, ...Ophthalmic Genetics 40 (1), 39-42, 2019201
10
2019
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN
G De Filippo, D Rendina, V Rocco, T Esposito, F Gianfrancesco, ...Italian Journal of Pediatrics 3, 1-4, 2013201
9
2013
Successful long-term therapy with flecainide in a family with paramyotonia congenita
C Terracciano, O Farina, T Esposito, L Lombardi, F Napolitano, ...Journal of Neurology, Neurosurgery & Psychiatry 9 (11), 1232-1234, 20120
8
2018
Dysregulation of the expression of asparagine-linked glycosylation 13 short isoform 2 affects nephrin function by altering its N-linked glycosylation
T Esposito, G De Stefano, MG Reccia, I Di Lorenzo, F Napolitano, ...Nephron 136 (2), 143-150, 20120
7
2017
Analysis of genetic and non-genetic predictors of levodopa induced dyskinesia in Parkinson’s Disease
A Tirozzi, N Modugno, NP Palomba, R Ferese, A Lombardi, E Olivola, ...Frontiers in pharmacology 12, 4003, 2021202
6
2021

Referred From: https://scholar.google.com/citations?user=w7qWEYYAAAAJ&hl=it

Cited by
Citations 3486
h-index 30
i10-index 63
Open Access Journals