Eloy Rivas
Sevilla, AN 41013, Spain
Last Updated: 09/26/2026
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Found 34 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
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Journal: Brain : a journal of neurology
Published: February 27, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Journal: Brain : a journal of neurology
Published: December 14, 2023
Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain.
Journal: Neuropathology and applied neurobiology
Published: May 22, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Journal: Brain : a journal of neurology
Published: January 11, 2023
Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort.
Journal: Neurologia
Published: September 14, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Journal: Journal of medical genetics
Published: July 18, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Journal: Human molecular genetics
Published: June 10, 2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Journal: The American journal of pathology
Published: February 07, 2022
Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics.
Journal: Journal of clinical medicine
Published: October 28, 2021
Desmin Modulates Muscle Cell Adhesion and Migration.
Journal: Frontiers in cell and developmental biology
Published: September 26, 2021
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Journal: Clinical genetics
Published: January 21, 2021
Last Updated: 09/26/2026