Vincent Timmerman

Affiliations: 
Universiteit Antwerpen (Belgium) 
Area:
Audiology, Epidemiology
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"Vincent Timmerman"
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Publications

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Lischka A, Eggermann K, Record CJ, et al. (2023) Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a Journal of Neurology
Bremer J, Meinhardt A, Katona I, et al. (2023) Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort. Brain Pathology (Zurich, Switzerland). e13200
Ermanoska B, Asselbergh B, Morant L, et al. (2023) Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling. Nature Communications. 14: 999
Tedesco B, Vendredy L, Adriaenssens E, et al. (2023) HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies. Autophagy. 1-23
Van de Vondel L, De Winter J, Beijer D, et al. (2022) De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders : Official Journal of the Movement Disorder Society
Van Lent J, Verstraelen P, Asselbergh B, et al. (2021) Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction. Brain : a Journal of Neurology
Reid Alderson T, Adriaenssens E, Asselbergh B, et al. (2021) A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins. The Embo Journal. e103811
Adriaenssens E, Tedesco B, Mediani L, et al. (2020) BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes. Scientific Reports. 10: 8755
Beijer D, Sisto A, Van Lent J, et al. (2019) Defects in Axonal Transport in Inherited Neuropathies. Journal of Neuromuscular Diseases
Gualandi F, Sette E, Fortunato F, et al. (2019) Report of a novel ATP7A mutation causing distal motor neuropathy. Neuromuscular Disorders : Nmd
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