Mario Sa

Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Journal: Research square

Published: July 17, 2026

Paramagnetic Rim Lesions in Pediatric Multiple Sclerosis and Their Association With Brain Tissue Atrophy.

Paramagnetic Rim Lesions in Pediatric Multiple Sclerosis and Their Association With Brain Tissue Atrophy.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: November 03, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Journal: European journal of human genetics : EJHG

Published: November 26, 2024

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Journal: The Lancet. Neurology

Published: September 04, 2024

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Journal: Movement disorders clinical practice

Published: March 06, 2024

Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?

Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?

Journal: Annals of neurology

Published: February 06, 2023

Factors Associated With Relapse and Treatment of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in the United Kingdom.

Factors Associated With Relapse and Treatment of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in the United Kingdom.

Journal: JAMA network open

Published: January 10, 2022

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.

Journal: The Lancet. Child & adolescent health

Published: May 08, 2021

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: Brain : a journal of neurology

Published: May 15, 2020

Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes.

Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 28, 2019

Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.

Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.

Journal: Multiple sclerosis (Houndmills, Basingstoke, England)

Published: November 01, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026