Elisabetta Tabolacci

ScholarGPS® ID: 15723891244269

Affiliation

Università Cattolica del Sacro Cuore, Milan , Brescia, Cremona, Piacenza and Rome, Italy

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Fragile X Syndrome | Mutation | Human Genetics | Medical Genetics | Methylation

Metrics Summary

Publication Count

Predicted Citations

2,022

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders (journal article) Grandi, Martina \| Galber, Chiara \| Gatto, Cristina \| Nobile, Veronica \| Pucci, Cecilia \| Schaldemose Nielsen, Ida \| Boldrin, Francesco \| Neri, Giovanni \| Chiurazzi, Pietro \| Solaini, Giancarlo \| ... \| Tabolacci, Elisabetta International Journal of Molecular Sciences, volume 25, issue 6, pages 3421- (2024). 10.3390/ijms25063421 Cite \| Source
Epigenetic causes of intellectual disability—the fragile X syndrome paradigm (book chapter) In Neuropsychiatric Disorders and Epigenetics Tabolacci, E. \| Neri, G. Elsevier (2024) 10.1016/B978-0-443-18516-8.00007-7 Cite \| Source
Remifentanil-induced hyperalgesia in healthy volunteers: a systematic review and meta-analysis of randomized controlled trials (journal article) Dello Russo, Cinzia \| Di Franco, Valeria \| Tabolacci, Elisabetta \| Cappoli, Natalia \| Navarra, Pierluigi \| Sollazzi, Liliana \| Rapido, Francesca \| Aceto, Paola Pain, volume 165, issue 5, pages 972-982 (2024). 10.1097/j.pain.0000000000003119 Cited by (1) \| Cite \| Source
Rutin Protects Fibroblasts from UVA Radiation through Stimulation of Nrf2 Pathway (journal article) Tabolacci, Elisabetta \| Tringali, Giuseppe \| Nobile, Veronica \| Duca, Sara \| Pizzoferrato, Michela \| Bottoni, Patrizia \| Clementi, Maria Elisabetta Antioxidants, volume 12, issue 4, pages 820- (2023). 10.3390/antiox12040820 Cited by (8) \| Cite \| Source
Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals (journal article) Cencelli, Giulia \| Pacini, Laura \| De Luca, Anastasia \| Messia, Ilenia \| Gentile, Antonietta \| Kang, Yunhee \| Nobile, Veronica \| Tabolacci, Elisabetta \| Jin, Peng \| Farace, Maria Giulia \| Bagni, Claudia Cells, volume 12, issue 5, pages 758- (2023). 10.3390/cells12050758 Cited by (3) \| Cite \| Source
RADX Gene Variant May Predispose to Familial Asperger Syndrome (journal article) Azzarà, Alessia \| Rumore, Roberto \| Brugnoletti, Fulvia \| Tabolacci, Elisabetta \| Bottillo, Irene \| Sangiorgi, Eugenio \| Gurrieri, Fiorella Genes, volume 14, issue 2, pages 301- (2023). 10.3390/genes14020301 Cite \| Source
Mitochondrial disfunction in human fibroblasts from individuals with Fragile X related disorders (journal article) Gatto, Cristina \| Grandi, Martina \| Pucci, Cecilia \| Solaini, Giancarlo \| Baracca, Alessandra \| Tabolacci, Elisabetta \| Giorgio, Valentina Biochimica et Biophysica Acta (BBA) - Bioenergetics, volume 1863 (2022). 10.1016/j.bbabio.2022.148875 Cite \| Source
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype (journal article) Lo Vecchio, Filomena \| Tabolacci, Elisabetta \| Nobile, Veronica \| Pomponi, Maria Grazia \| Pietrobono, Roberta \| Neri, Giovanni \| Amenta, Simona \| Candida, Ettore \| Grippaudo, Cristina \| Lo Cascio, Ettore \| ... \| Chiurazzi, Pietro Genes, volume 13, issue 7, pages 1161- (2022). 10.3390/genes13071161 Cite \| Source
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? (journal article) Tabolacci, Elisabetta \| Nobile, Veronica \| Pucci, Cecilia \| Chiurazzi, Pietro International Journal of Molecular Sciences, volume 23, issue 10, pages 5425- (2022). 10.3390/ijms23105425 Cited by (8) \| Cite \| Source
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis (journal article) Tabolacci, Elisabetta \| Pomponi, Maria Grazia \| Remondini, Laura \| Pietrobono, Roberta \| Orteschi, Daniela \| Nobile, Veronica \| Pucci, Cecilia \| Musto, Elisa \| Pane, Marika \| Mercuri, Eugenio M. \| ... \| Zollino, Marcella Genes, volume 12, issue 12, pages 1909- (2021). 10.3390/genes12121909 Cited by (4) \| Cite \| Source
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization (journal article) Tabolacci, Elisabetta \| Molinario, Clelia \| Marangi, Giuseppe \| Nobile, Veronica \| Arena, Vincenzo \| Mendes, Marisa I. \| Smith, Desiree E. C. \| Salomons, Gajja S. \| Tana, Milena \| Costa, Simonetta \| ... \| Genuardi, Maurizio Clinical Genetics, volume 99, issue 4, pages 601-603 (2021). 10.1111/cge.13893 Cited by (3) \| Cite \| Source
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome (journal article) Nobile, Veronica \| Pucci, Cecilia \| Chiurazzi, Pietro \| Neri, Giovanni \| Tabolacci, Elisabetta Biomolecules, volume 11, issue 2, pages 296- (2021). 10.3390/biom11020296 Cited by (18) \| Cite \| Source
The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception (journal article) Cappoli, Natalia \| Tabolacci, Elisabetta \| Aceto, Paola \| Dello Russo, Cinzia Journal of Neuroimmunology, volume 349 (2020). 10.1016/j.jneuroim.2020.577406 Cited by (68) \| Cite \| Source
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation (journal article) Tabolacci, Elisabetta \| Pomponi, Maria Grazia \| Remondini, Laura \| Pietrobono, Roberta \| Nobile, Veronica \| Pennacchio, Gaetana \| Gurrieri, Fiorella \| Neri, Giovanni \| Genuardi, Maurizio \| Chiurazzi, Pietro European Journal of Human Genetics, volume 28, issue 5, pages 567-575 (2020). 10.1038/s41431-019-0554-7 Cited by (6) \| Cite \| Source
DNA Methylation in the Diagnosis of Monogenic Diseases (journal article) Cerrato, Flavia \| Sparago, Angela \| Ariani, Francesca \| Brugnoletti, Fulvia \| Calzari, Luciano \| Coppedè, Fabio \| De Luca, Alessandro \| Gervasini, Cristina \| Giardina, Emiliano \| Gurrieri, Fiorella \| ... \| Riccio, Andrea Genes, volume 11, issue 4, pages 355- (2020). 10.3390/genes11040355 Cited by (30) \| Cite \| Source
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families (journal article) Tabolacci, Elisabetta \| Pietrobono, Roberta \| Maneri, Giulia \| Remondini, Laura \| Nobile, Veronica \| Della Monica, Matteo \| Pomponi, Maria Grazia \| Genuardi, Maurizio \| Neri, Giovanni \| Chiurazzi, Pietro Genes, volume 11, issue 3, pages 248- (2020). 10.3390/genes11030248 Cited by (8) \| Cite \| Source
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene (journal article) Nobile, Veronica \| Palumbo, Federica \| Lanni, Stella \| Ghisio, Valentina \| Vitali, Alberto \| Castagnola, Massimo \| Marzano, Valeria \| Maulucci, Giuseppe \| De Angelis, Claudio \| De Spirito, Marco \| ... \| Tabolacci, Elisabetta Human Genetics, volume 139, issue 2, pages 227-245 (2020). 10.1007/s00439-019-02104-7 Cited by (18) \| Cite \| Source
Reactivation of the FMR1 Gene (book chapter) In Fragile X Syndrome Tabolacci, Elisabetta \| Chiurazzi, Pietro Elsevier (2017) 10.1016/B978-0-12-804461-2.00017-2 Cite \| Source
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue (journal article) Vaisfeld, Alessandro \| Pomponi, Maria Grazia \| Pietrobono, Roberta \| Tabolacci, Elisabetta \| Neri, Giovanni American Journal of Medical Genetics Part A, volume 173, issue 1, pages 285-288 (2017). 10.1002/ajmg.a.38003 Cited by (13) \| Cite \| Source \| Open Access
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells (journal article) Tabolacci, Elisabetta \| Mancano, Giorgia \| Lanni, Stella \| Palumbo, Federica \| Goracci, Martina \| Ferrè, Fabrizio \| Helmer-Citterich, Manuela \| Neri, Giovanni Epigenetics & Chromatin, volume 9, issue 1 (2016). 10.1186/s13072-016-0060-x Cited by (25) \| Cite \| Source \| Open Access