Beatriz Cabello-Munoz
Sevilla, AN, Spain
Last Updated: 09/26/2026
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Found 10 publications
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2026
Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis.
Journal: The Lancet. Neurology
Published: April 09, 2024
[Translated article] Improvements in the Management of Patients With Generalized Pustular Psoriasis in Spain: Recommendations From a Group of Experts.
Journal: Actas dermo-sifiliograficas
Published: December 14, 2023
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Journal: Brain : a journal of neurology
Published: August 03, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Journal: Cellular and molecular life sciences : CMLS
Published: November 10, 2022
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
Journal: Journal of neuromuscular diseases
Published: August 09, 2021
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Journal: Molecular genetics & genomic medicine
Published: January 31, 2020
Cryptogenic West syndrome: Clinical profile, response to treatment and prognostic factors
Journal: Anales de pediatria
Published: May 19, 2017
Autoimmune post-herpes simplex encephalitis of adults and teenagers.
Journal: Neurology
Published: March 06, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026