Concepedia

Fabiola Mavillard

FM

Statistics

Publications

11

Citations

485

H-Index

11

Active since

2009

Affiliations

Instituto de Biomedicina de Sevilla(Current)

Hospital Universitario Virgen del Rocío

Universidad de Sevilla

Biomedical Research Networking Center on Neurodegenerative Diseases

Universitat Autònoma de Barcelona

Fabiola Mavillard is an author at Instituto de Biomedicina de Sevilla specializing in life sciences, muscular dystrophy, and genetics.

ORCID

Publications per year

2009–2023

11

Publications

11

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

Cristina Domínguez‐González, Marcos Madruga‐Garrido, Fabiola Mavillard et al. · Annals of Neurology · 2019 · 126 citations · Full text

, , +15

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. · EMBO Molecular Medicine · 2016 · 106 citations · Full text

, , +17

PKA‐Mediated Golgi Remodeling During cAMP Signal Transmission

Fabiola Mavillard, Josefina Hidalgo, Diego Megı́as et al. · Traffic · 2009 · 40 citations · Full text

, , +17

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

Cristina Domínguez‐González, Carmen Badosa, Marcos Madruga‐Garrido et al. · Scientific Reports · 2020 · 37 citations · Full text

, , +15

Heterozygous <i>CAPN3</i> missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Laura González, Gianina Ravenscroft, Macarena Cabrera‐Serrano et al. · Neuropathology and Applied Neurobiology · 2020 · 37 citations

, , +12

1–5 of 11