Publications by authors named "Fabiola Mavillard"

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Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency.
Santiago López-Begines, Nozha Borjini, Ángela Lavado-Roldán, Cristina Mesa-Cruz, Fabiola Mavillard

Sci Adv· May 2025

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A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Fabiola Mavillard, Alejandra Guerra-Castellano, David Guerrero-Gómez, Eloy Rivas, Gloria Cantero

Biochim Biophys Acta Mol Basis Dis· October 2024

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The Iberian Roma Population Variant Server (IRPVS).
Fabiola Mavillard, Javier Perez-Florido, Francisco M Ortuño, Amador Valladares, Miren L Álvarez-Villegas

J Genet Genomics· July 2024

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Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, Iñigo Rojas-Marcos, Chiara Folland

Brain· December 2023

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Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, Nanna Scharff Poulsen, Tanya Stojkovic, Fabiola Mavillard

Brain· September 2023

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Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Fabiola Mavillard, Emilia Servián-Morilla, Eloy Rivas, Carmen Paradas, Macarena Cabrera-Serrano

Clin Genet· July 2021

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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Cristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, Itxaso Martí, Carmen Paradas, Fabiola Mavillard

Sci Rep· June 2020

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NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Fabiola Mavillard, Marcos Madruga-Garrido, Eloy Rivas, Emilia Servián-Morilla, Rainiero Ávila-Polo

Ann Clin Transl Neurol· November 2019

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Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, Caterina Garone, Francisco Javier Aguirre-Rodríguez

Ann Neurol· August 2019

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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, Pedro Linares-Clemente, María C Rivero

Proc Natl Acad Sci U S A· April 2019

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A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, Eloy Rivas, Bharti Morar

Neurology· July 2018

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Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.
Emilia Servián-Morilla, Estefanía Robles-Lanuza, Ana C Sánchez-Hidalgo, Rafael J Camacho-Garcia, Juan A Paez-Gomez, Fabiola Mavillard

J Neurosci· January 2018

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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard

EMBO Mol Med· November 2016

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PKA-mediated Golgi remodeling during cAMP signal transmission.
Fabiola Mavillard, Josefina Hidalgo, Diego Megias, Kostantin L Levitsky, Angel Velasco

Traffic· January 2010

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