Vincent Timmerman

Universiteit Antwerpen (Belgium) 
Audiology, Epidemiology
"Vincent Timmerman"
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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
Siekierska A, Stamberger H, Deconinck T, et al. (2019) Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications. 10: 708
Haidar M, Asselbergh B, Adriaenssens E, et al. (2019) Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies. Autophagy. 1-18
Bernard-Marissal N, van Hameren G, Juneja M, et al. (2019) Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy. Proceedings of the National Academy of Sciences of the United States of America
Krols M, Asselbergh B, De Rycke R, et al. (2018) Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. Human Molecular Genetics
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