Jan H. Veldink

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 284 publications

Lessons from a systematic review of family-based studies in ALS.

Lessons from a systematic review of family-based studies in ALS.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: August 12, 2026

Correction: A rare missense variant impacting NEK1 kinase function is associated with ALS.

Correction: A rare missense variant impacting NEK1 kinase function is associated with ALS.

Journal: Acta neuropathologica communications

Published: July 21, 2026

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: July 17, 2026

Diagnostic Revision From Primary Lateral Sclerosis to Amyotrophic Lateral Sclerosis: A Cohort Study.

Diagnostic Revision From Primary Lateral Sclerosis to Amyotrophic Lateral Sclerosis: A Cohort Study.

Journal: Neurology

Published: May 29, 2026

Trans-eQTLs reveal the architecture of human gene regulatory networks.

Trans-eQTLs reveal the architecture of human gene regulatory networks.

Journal: medRxiv : the preprint server for health sciences

Published: April 29, 2026

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

A rare missense variant impacting NEK1 kinase function is associated with ALS.

A rare missense variant impacting NEK1 kinase function is associated with ALS.

Journal: Acta neuropathologica communications

Published: February 25, 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

Prodromal symptoms in amyotrophic lateral sclerosis from the perspective of the patient and of the caregiver.

Prodromal symptoms in amyotrophic lateral sclerosis from the perspective of the patient and of the caregiver.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: October 25, 2025

Reader Response: Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.

Reader Response: Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.

Journal: Neurology

Published: October 03, 2025

Dissecting epigenetic age acceleration in amyotrophic lateral sclerosis.

Dissecting epigenetic age acceleration in amyotrophic lateral sclerosis.

Journal: Epigenomics

Published: September 30, 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

Showing 1-12 of 284

Last Updated: 09/26/2026