Emilia Morilla-Servian
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 16 publications
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.
Journal: PLoS genetics
Published: May 09, 2025
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.
Journal: bioRxiv : the preprint server for biology
Published: December 09, 2024
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
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Journal: Brain : a journal of neurology
Published: January 11, 2023
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Journal: Human molecular genetics
Published: June 10, 2022
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Journal: Journal of neurology
Published: November 08, 2021
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
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Journal: Acta neuropathologica
Published: September 19, 2019
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Journal: Annals of clinical and translational neurology
Published: June 20, 2019
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Journal: Acta neuropathologica communications
Published: January 16, 2019
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Journal: Acta neuropathologica communications
Published: July 28, 2018
Last Updated: 09/26/2026