Suchergebnisse - "Mavillard, Fabiola"

PubPharm (10)

1

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

enthalten in: Annals of clinical and translational neurology | 2019

von Mavillard, F. | Madruga-Garrido, M. | Rivas, E. | +6

2

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

enthalten in: Annals of neurology | 2019

von Domínguez-González, C. | Madruga-Garrido, M. | Mavillard, F. | +24

3

Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2019

von Nieto-González, J. | Gómez-Sánchez, L. | Mavillard, F. | +6

4

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

enthalten in: Annals of Clinical and Translational Neurology | 2019

von Mavillard, F. | Madruga‐Garrido, M. | Rivas, E. | +6

5

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

enthalten in: Annals of Neurology | 2019

von Domínguez‐González, C. | Madruga‐Garrido, M. | Mavillard, F. | +24

6

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

enthalten in: Neurology | 2018

von Cabrera-Serrano, M. | Mavillard, F. | Biancalana, V. | +19

7

Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release

enthalten in: The Journal of neuroscience : the official journal of the Society for Neuroscience | 2018

von Servián-Morilla, E. | Robles-Lanuza, E. | Sánchez-Hidalgo, A. | +6

8

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

enthalten in: EMBO molecular medicine | 2016

von Servián-Morilla, E. | Takeuchi, H. | Lee, T. | +21

9

PKA-mediated Golgi remodeling during cAMP signal transmission

enthalten in: Traffic (Copenhagen, Denmark) | 2010

von Mavillard, F. | Hidalgo, J. | Megias, D. | +2

10

Different Mechanisms of Recognition and ER Retention by Transmembrane Transcription Factors CREB-H and ATF6

enthalten in: Traffic | 2010

von Mavillard, F. | Hidalgo, J. | Megias, D. | +2

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