Jonathan Baets

Antwerpen, VLG, Belgium

Last Updated: 09/26/2026

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Found 141 publications

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Journal: Journal of neuromuscular diseases
Published: August 14, 2026

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.

Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

Journal: JIMD reports
Published: April 01, 2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Journal: Human molecular genetics
Published: December 23, 2025

Ageing-Associated Dysregulation of Myogenic Differentiation in Inclusion Body Myositis.

Ageing-Associated Dysregulation of Myogenic Differentiation in Inclusion Body Myositis.

Journal: Journal of cachexia, sarcopenia and muscle
Published: November 07, 2025

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: June 19, 2025

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.

Journal: The Journal of physiology
Published: June 17, 2025

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

Journal: Journal of neuromuscular diseases
Published: April 25, 2025

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.

Journal: HGG advances
Published: April 14, 2025

Gender differences in Myasthenia Gravis in a neuromuscular reference center in Belgium.

Gender differences in Myasthenia Gravis in a neuromuscular reference center in Belgium.

Journal: Acta neurologica Belgica
Published: April 03, 2025

Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis.

Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis.

Journal: Journal of cachexia, sarcopenia and muscle
Published: March 21, 2025
Showing 1-12 of 141

Last Updated: 09/26/2026