Fabiola Mavillard
Sevilla, AN, Spain
Last Updated: 09/26/2026
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Found 15 publications
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 16, 2024
The Iberian Roma Population Variant Server (IRPVS).
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: December 06, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Journal: Brain : a journal of neurology
Published: January 11, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Journal: Brain : a journal of neurology
Published: November 26, 2022
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Journal: Clinical genetics
Published: January 21, 2021
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
Journal: Neuropathology and applied neurobiology
Published: May 04, 2020
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Journal: Annals of clinical and translational neurology
Published: June 20, 2019
Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 31, 2019
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Journal: Acta neuropathologica communications
Published: January 16, 2019
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Journal: Annals of neurology
Published: December 31, 2018
Last Updated: 09/26/2026