Koen C. Demaegd

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 12 publications

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report.

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report.

Journal: European journal of human genetics : EJHG

Published: April 28, 2026

Fast and controlled access to tofersen for SOD1-related amyotrophic lateral sclerosis in The Netherlands; experiences using the orphan drug access protocol.

Fast and controlled access to tofersen for SOD1-related amyotrophic lateral sclerosis in The Netherlands; experiences using the orphan drug access protocol.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: April 13, 2026

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Journal: BMJ neurology open

Published: November 11, 2025

Serum small non-coding RNA define molecular subtypes in amyotrophic lateral sclerosis.

Serum small non-coding RNA define molecular subtypes in amyotrophic lateral sclerosis.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: November 01, 2025

A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.

A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: September 04, 2025

Small RNA sequencing identifies serum tDR-1:34-Gly-GCC tiRNA levels as a biomarker for survival in amyotrophic lateral sclerosis.

Small RNA sequencing identifies serum tDR-1:34-Gly-GCC tiRNA levels as a biomarker for survival in amyotrophic lateral sclerosis.

Journal: iScience

Published: August 15, 2025

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.

Journal: European journal of human genetics : EJHG

Published: November 08, 2024

Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).

Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: September 08, 2023

Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.

Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.

Journal: Trials

Published: October 05, 2022

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: October 05, 2022

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.

Journal: Neuromuscular disorders : NMD

Published: December 08, 2021

Transcellular Spreading of Tau in Tauopathies.

Transcellular Spreading of Tau in Tauopathies.

Journal: Chembiochem : a European journal of chemical biology

Published: May 27, 2018

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Last Updated: 09/26/2026