Suchergebnisse - "Mavillard, Fabiola"

PubPharm (11)

1

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

enthalten in: Brain : a journal of neurology | 2023

von Mavillard, F. | Servian-Morilla, E. | Dofash, L. | +13

2

Anoctamin-5 related muscle disease : clinical and genetic findings in a large European cohort

enthalten in: Brain : a journal of neurology | 2023

von de Bruyn, A. | Montagnese, F. | Holm-Yildiz, S. | +30

3

Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy

enthalten in: Clinical genetics | 2021

von Mavillard, F. | Servián-Morilla, E. | Rivas, E. | +2

4

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

enthalten in: Scientific reports | 2020

von Dominguez-Gonzalez, C. | Badosa, C. | Madruga-Garrido, M. | +23

5

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

6

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

enthalten in: Annals of neurology | 2019

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

7

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

8

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

9

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

10

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