Martina Di Rocco | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans	FRONTIERS IN MOLECULAR NEUROSCIENCE	2023
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease	GENES	2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments	PARKINSONISM & RELATED DISORDERS	2023
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders	JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY	2022
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 ONLINE	2022
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling	FRONTIERS IN NEUROLOGY	2022
C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples	SCIENTIFIC REPORTS	2021
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum	AMERICAN JOURNAL OF HUMAN GENETICS	2020