Fabiola Mavillard

5PUBLICATIONS
23CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Cellular nervous systemSensory systems
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Publications (5)

|May 21, 2025
Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency.

Santiago López-Begines, Nozha Borjini, Ángela Lavado-Roldán

|Apr 05, 2021
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.

Fabiola Mavillard, Emilia Servián-Morilla, Eloy Rivas

|Oct 16, 2019
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

Fabiola Mavillard, Marcos Madruga-Garrido, Eloy Rivas

|Mar 31, 2019
Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α.

Jose L Nieto-González, Leonardo Gómez-Sánchez, Fabiola Mavillard

|Dec 13, 2017
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.

Emilia Servián-Morilla, Estefanía Robles-Lanuza, Ana C Sánchez-Hidalgo

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Frequent Collaborators

2 joint publications

Jose L Nieto-González

2 joint publications

Rafael Fernández-Chacón

2 joint publications

Macarena Cabrera-Serrano

1 joint publications

Estefanía Robles-Lanuza