Simona Orcesi

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Stem Cell Transplantation

Top Venues

Neuropediatrics

Cellular & molecular immunology

American journal of medical genetics. Part A

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives. Neuropediatrics (2024)
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives. Neuropediatrics (2024)
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives. Neuropediatrics 55 (2) (2024)
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives. Neuropediatrics 55 (2) (2024)
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives. Neuropediatrics 55 (2) (2024)
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives. Neuropediatrics 55 (2) (2024)
Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi
Expanding the Natural History of SNORD118 -Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature. Genes 14 (9) (2023)
Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, Samantha Bruno, Sebastiano Arceri, Elisa Novello, Elisa Giorgio, Vittoria Rizzo, Renato Borgatti, Enza Maria Valente, Antonio Pisani, Simona Orcesi, Fabio Sirchia
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother. American journal of medical genetics. Part A (2023)
Francesca Dragoni, Jessica Garau, Daisy Sproviero, Simona Orcesi, Costanza Varesio, Silvia De Siervi, Stella Gagliardi, Cristina Cereda, Orietta Pansarasa
Characterization of Mitochondrial Alterations in Aicardi-Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes. International journal of molecular sciences 23 (22) (2022)
Anna Maria Sole Giordano, Marco Luciani, Francesca Gatto, Monah Abou-Alezz, Chiara Beghè, Lucrezia Della Volpe, Alessandro Migliara, Sara Valsoni, Marco Genua, Monika Dzieciatkowska M, Giacomo Frati, Julie Tahraoui-Bories, Silvia Clara Giliani, Simona Orcesi, Elisa Fazzi, Renato Ostuni, Angelo D'Alessandro, Raffaella Di Micco, Ivan Merelli, Angelo Lombardo, Martin A M Reijns, Natalia Gromak, Angela Gritti, Anna Kajaste-Rudnitski
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes. The Journal of experimental medicine 219 (4) (2022)
Jessica Garau, Daisy Sproviero, Francesca Dragoni, Elisa Piscianz, Carolina Santonicola, Davide Tonduti, Stephana Carelli, Alessandra Tesser, Gian Vincenzo Zuccotti, Alberto Tommasini, Simona Orcesi, Orietta Pansarasa, Cristina Cereda
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations. Cellular & molecular immunology 18 (6) (2021)
Costanza Varesio, Simone Gana, Alessia Asaro, Elena Ballante, Raffaella Fiamma Cabini, Elena Tartara, Michela Bagnaschi, Ludovica Pasca, Marialuisa Valente, Simona Orcesi, Cristina Cereda, Pierangelo Veggiotti, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy. Diagnostics (Basel, Switzerland) 11 (6) (2021)
Camilla Pisoni, Livio Provenzi, Michela Moncecchi, Camilla Caporali, Cecilia Naboni, Mauro Stronati, Rosario Montirosso, Renato Borgatti, Simona Orcesi
Early parenting intervention promotes 24-month psychomotor development in preterm children. Acta paediatrica (Oslo, Norway : 1992) 110 (1) (2020)
Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P Badrock, Mathieu P Rodero, Marie-Thérèse El-Daher, Gillian I Rice, Somdutta Dhir, Ann P Wheeler, Ashish Dhir, Waad Albawardi, Marie-Louise Frémond, Luis Seabra, Jennifer Doig, Natalie Blair, Maria José Martin-Niclos, Erika Della Mina, Alejandro Rubio-Roldán, Jose Luis García-Pérez, Duncan Sproul, Jan Rehwinkel, Jonny Hertzog, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Julien Baruteau, Karine Brochard, Jonathan Buckley, Vanessa Cavallera, Cristina Cereda, Liesbeth M H De Waele, Angus Dobbie, Diane Doummar, Frances Elmslie, Margarete Koch-Hogrebe, Ram Kumar, Kate Lamb, John H Livingston, Anirban Majumdar, Charles Marques Lorenço, Simona Orcesi, Sylviane Peudenier, Kevin Rostasy, Caroline A Salmon, Christiaan Scott, Davide Tonduti, Guy Touati, Marialuisa Valente, Hélio van der Linden, Hilde Van Esch, Marie Vermelle, Kate Webb, Andrew P Jackson, Martin A M Reijns, Nick Gilbert, Yanick J Crow
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nature genetics 52 (12) (2020)
Camilla Caporali, Camilla Pisoni, Linda Gasparini, Elena Ballante, Marzo Zecca, Simona Orcesi, Livio Provenzi
A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study. Journal of perinatology : official journal of the California Perinatal Association 40 (12) (2020)