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Clinical Genetics
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April 5, 2021
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy
Fabiola Mavillard, Emilia Servián-Morilla, Eloy Rivas, et al.
Traffic (Copenhagen, Denmark)
|
December 17, 2009
PKA-mediated Golgi remodeling during cAMP signal transmission
Fabiola Mavillard, Josefina Hidalgo, Diego Megias, et al.
Annals of Clinical and Translational Neurology
|
October 16, 2019
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Fabiola Mavillard, Marcos Madruga-Garrido, Eloy Rivas, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 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, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
December 13, 2017
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release
Emilia Servián-Morilla, Estefanía Robles-Lanuza, Ana C Sánchez-Hidalgo, et al.
Brain : a Journal of Neurology
|
July 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, et al.
Science Advances
|
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, et al.
Neurology
|
June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
Scientific Reports
|
June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Cristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
EMBO Molecular Medicine
|
November 4, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, et al.
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Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Clinical Genetics
|
April 5, 2021
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy
Fabiola Mavillard, Emilia Servián-Morilla, Eloy Rivas, et al.
Traffic (Copenhagen, Denmark)
|
December 17, 2009
PKA-mediated Golgi remodeling during cAMP signal transmission
Fabiola Mavillard, Josefina Hidalgo, Diego Megias, et al.
Annals of Clinical and Translational Neurology
|
October 16, 2019
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Fabiola Mavillard, Marcos Madruga-Garrido, Eloy Rivas, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 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, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
December 13, 2017
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release
Emilia Servián-Morilla, Estefanía Robles-Lanuza, Ana C Sánchez-Hidalgo, et al.
Brain : a Journal of Neurology
|
July 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, et al.
Science Advances
|
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, et al.
Neurology
|
June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
Scientific Reports
|
June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Cristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
EMBO Molecular Medicine
|
November 4, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, et al.
Page
of 2