Skip to main content

3 Result(s)

within Antoon Meylemans Remove this filter

and

  1. Article

    Open Access

    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

    Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-4...

    Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans… in Acta Neuropathologica (2023)

    Download PDF (6308 KB) View Article

  2. No Access

    Article

    Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

    Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesi...

    Antoon Meylemans, Pieter Depuydt, Elfride De Baere… in Acta Neurologica Belgica (2021)

  3. No Access

    Article

    Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review

    Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal reces...

    Antoon Meylemans, Jan De Bleecker in Acta Neurologica Belgica (2019)