Simone Martinelli

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 13

Top Venues

American journal of medical genetics. Part A

Genes

Human mutation

Human molecular genetics

Istituto Superiore di Sanità

Università degli Studi di Roma La Sapienza (PHD)

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

Affiliation History

Istituto Superiore di Sanità

Italy

In-staff Researcher :: Hematology, Oncology and Molecular Medicine

Genetics and Biophysics "Adriano Buzzati Traverso", CNR

Italy

Sabbatical researcher

Istituto Superiore di Sanità

Italy

Postdoctoral fellow :: Cell Biology and Neurosciences

Università degli Studi di Roma La Sapienza

Italy

Ph.D. student :: Medical Genetics

Istituto Superiore di Sanità

Italy

Undergraduate student, Ph.D. student :: Comparative Toxicology and Ecotoxicology

Education History

Università degli Studi di Roma La Sapienza

Italy

PHD

Publications

Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (8) (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (8) (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (8) (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A 194 (8) (2024)
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David A Stevenson, Dorsa Moslehi, Serenella Venanzi, null null, Jonathan A Bernstein, Tartaglia Marco, Simone Martinelli
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. American journal of medical genetics. Part A (2024)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli, Jennifer Friedman, Gianfranco Bocchinfuso, Alberto Martire, Elia Di Schiavi, Vincenzo Leuzzi, Simone Martinelli
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia. Human molecular genetics (2021)
Prapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, Amélie Bonnefond, Serena Pezzilli, Tommaso Biagini, Patinut Buranasupkajorn, Timothy Hastings, Christine Mendonca, Lorella Marselli, Rosa Di Paola, Zuroida Abubakar, Luana Mercuri, Federica Alberico, Elisabetta Flex, Julian Ceròn, Montserrat Porta-de-la-Riva, Ornella Ludovico, Massimo Carella, Simone Martinelli, Piero Marchetti, Tommaso Mazza, Philippe Froguel, Vincenzo Trischitta, Alessandro Doria, Sabrina Prudente
Gain of function of Malate Dehydrogenase 2 (MDH2) and familial hyperglycemia. The Journal of clinical endocrinology and metabolism (2021)
Simone Martinelli, Luca Pannone, Christina Lissewski, Julia Brinkmann, Elisabetta Flex, Denny Schanze, Paolo Calligari, Massimiliano Anselmi, Francesca Pantaleoni, Viviana Claudia Canale, Francesca Clementina Radio, Adonis Ioannides, Nils Rahner, Ina Schanze, Dragana Josifova, Gianfranco Bocchinfuso, Mina Ryten, Lorenzo Stella, Tartaglia Marco, Martin Zenker
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. Human mutation 41 (6) (2020)

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Publication Activity (10 Years)

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Simone Martinelli