Publications by authors named "I Signoria"

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Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.
Federica Genovese, Yu-Ting Huang, Anna Al Motyl, Martina Paganin, Gaurav Sharma, Ilaria Signoria

JCI Insight· October 2025

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Comprehensive analysis across excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy.
Maria M Zwartkruis, Joris V Kortooms, Demi Gommers, Martin G Elferink, Ilaria Signoria

iScience· May 2025

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Dynamic modulation of the motor neuron translatome during developmental synapse elimination.
Dinja van der Hoorn, Fabio Lauria, Helena Chaytow, Kiterie M E Faller, Yu-Ting Huang, Ilaria Signoria

Sci Signal· April 2025

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Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
M M Zwartkruis, M G Elferink, D Gommers, I Signoria, L Blasco-Pérez

Genome Med· March 2025

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Patient-specific responses to splice-modifying treatments in spinal muscular atrophy fibroblasts.
Ilaria Signoria, Maria M Zwartkruis, Lotte Geerlofs, Elena Perenthaler, Kiterie M E Faller

Mol Ther Methods Clin Dev· December 2024

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