Adela D. Marina

Essen, NW, Germany

Last Updated: 09/26/2026

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Found 17 publications

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

Journal: European journal of neurology

Published: February 09, 2026

Individualized online exercise therapy aids recovery in pediatric long-COVID-findings from an exploratory randomized controlled trial.

Individualized online exercise therapy aids recovery in pediatric long-COVID-findings from an exploratory randomized controlled trial.

Journal: European journal of pediatrics

Published: September 06, 2025

278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands.

278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: April 14, 2025

Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data.

Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data.

Journal: Orphanet journal of rare diseases

Published: October 22, 2024

Characterization of children with early onset pediatric multiple sclerosis.

Characterization of children with early onset pediatric multiple sclerosis.

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

Published: August 17, 2024

Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis.

Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis.

Journal: Acta neuropathologica

Published: February 15, 2024

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 14, 2024

A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.

A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.

Journal: Journal of neuromuscular diseases

Published: January 13, 2024

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Journal: Skeletal muscle

Published: December 14, 2023

Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.

Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.

Journal: Acta neuropathologica

Published: November 16, 2023

Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.

Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.

Journal: Journal of cellular and molecular medicine

Published: September 23, 2023

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Journal: Open biology

Published: July 11, 2023

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Last Updated: 09/26/2026