Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Frontiers in Molecular Neuroscience|June 16, 2023
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegansLuca Pannone, Valentina Muto, Francesca Nardecchia, et al.
Clinical Genetics|August 4, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findingsAlessandra D'Amico, Carmen Rosano, Luca Pannone, et al.
Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
The Journal of Clinical Investigation|June 13, 2024
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammalsAnais Franco-Romero, Valeria Morbidoni, Giulia Milan, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2021
Gain of Function of Malate Dehydrogenase 2 and Familial HyperglycemiaPrapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, et al.
Journal of Medicinal Chemistry|October 29, 2021
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein InteractionsSara Bobone, Luca Pannone, Barbara Biondi, et al.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
Parkinsonism & Related Disorders|March 3, 2020
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonismSimone Martinelli, Viviana Cordeddu, Serena Galosi, et al.
Pageof 3