Publications by authors named "Simone Martinelli"

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Interpreting the functional impact of genetic variants: The need for context qualifiers.
Simone Martinelli, Hélène Cavé, Alessandro De Luca, Marina DiStefano, Rachel Karchin

Am J Hum Genet· December 2025

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Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.
Chloe Alexa McGhee, Julia R Plank, Luca Pannone, Odeya Russo, Naomi Fuhrmann, Simone Martinelli

Mol Autism· October 2025

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Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.
Mikhail Savitsky, Yonika A Larasati, Gonzalo P Solis, Alexey Koval, Ana Camacho, Simone Martinelli

Sci Signal· October 2025

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Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course.
Emilia Stellacci, Simone Martinelli, Pietro Carbone, Elena Demuru, Maurizio Genuardi

Front Med (Lausanne)· November 2024

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Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Simone Martinelli

HGG Adv· October 2024

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Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein Interactions.
Sara Bobone, Claudia Storti, Chiara Fulci, Alessia Damiani, Chiara Innamorati, Simone Martinelli

J Phys Chem Lett· October 2024

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Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David Stevenson, Dorsa Moslehi, Simone Martinelli

Am J Med Genet A· August 2024

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Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Serena Galosi, Cecilia Mancini, Anna Commone, Paolo Calligari, Viviana Caputo, Simone Martinelli

Mov Disord· July 2024

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Reply to: Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.
Francesca Nardecchia, Simone Martinelli, Luca Pollini, Vincenzo Leuzzi

Mov Disord Clin Pract· June 2024

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C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
Anais Franco-Romero, Valeria Morbidoni, Giulia Milan, Roberta Sartori, Jesper Wulff, Simone Martinelli

J Clin Invest· June 2024

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Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties.
Maria Cristina Benedetti, Tiziano D'andrea, Alessio Colantoni, Denis Silachev, Valeria de Turris, Simone Martinelli

Heliyon· March 2024

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GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Serena Galosi, Maria Novelli, Martina Di Rocco, Elisabetta Flex, Elena Messina, Simone Martinelli

Mov Disord· December 2023

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Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient.
Francesca Nardecchia, Rossella Bove, Luca Pollini, Maria Teresa Giannini, Filippo Manti, Simone Martinelli

Mov Disord Clin Pract· September 2023

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Analysis of the cancer occurrence related to natural radioactivity in the Rio Grande do Norte State, Brazil.
Simone Martinelli, Amanda Nogueira Medeiros, Raquel Franco de Souza, Agustina Maria Marconi, Julio Alejandro Navoni

Environ Sci Pollut Res Int· August 2023

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GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Maria Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano

Parkinsonism Relat Disord· June 2023

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The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in .
Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Simone Martinelli

Front Mol Neurosci· May 2023

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Phenotypic Assessment of Pathogenic Variants in and Response to Caffeine in Models of the Disease.
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Simone Martinelli

Genes (Basel)· January 2023

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"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Francesco Nicita, Fabrizia Stregapede, Federica Deodato, Simone Pizzi, Simone Martinelli

Eur J Hum Genet· August 2022

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Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Serena Galosi, Luca Pollini, Maria Novelli, Katerina Bernardi, Martina Di Rocco, Simone Martinelli

Front Neurol· August 2022

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Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.
Simona Coppola, Antonella Insalaco, Erika Zara, Martina Di Rocco, Denise Pires Marafon, Simone Martinelli

J Allergy Clin Immunol· July 2022

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SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Simone Martinelli

Clin Genet· July 2022

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Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Martina Di Rocco, Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Simone Martinelli

Hum Mol Genet· March 2022

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Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
Prapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, Amélie Bonnefond, Serena Pezzilli, Simone Martinelli

J Clin Endocrinol Metab· February 2022

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Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
Sara Bobone, Luca Pannone, Barbara Biondi, Maja Solman, Elisabetta Flex, Simone Martinelli

J Med Chem· November 2021

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C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples.
Enrico Lanza, Martina Di Rocco, Silvia Schwartz, Davide Caprini, Edoardo Milanetti, Simone Martinelli

Sci Rep· August 2021

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