References
- Peeters K, Chamova T, Jordanova A. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain. 2014;137:2879–96.
- Kosac V, de Freitas MRG, Prado FM, Nascimento OJM, Bittar C. Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil. Arq Neuropsiquiatr. 2013;71:788–90.
- Kors S, Costello JL, Schrader M. VAP proteins – from organelle tethers to pathogenic host interactors and their role in neuronal disease. Front Cell Dev Biol. 2022;10:895856.
- Trilico MLC, Lorenzoni PJ, Kay CSK, Ducci RDP, Fustes OJH, Werneck LC, et al. Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the VAPB gene in Southern Brazil. Amyotroph Lateral Scler Frontotemporal Degener.. 2020;21:286–90.
- Funke AD, Esser M, Krüttgen A, Weis J, Mitne-Neto M, Lazar M, et al. The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case. Clin Genet. 2010;77:302–3.
- de Alcântara C, Cruzeiro MM, França MC, Camargos ST, de Souza LC. Amyotrophic lateral sclerosis type 8 is not a pure motor disease: evidence from a neuropsychological and behavioural study. J Neurol.. 2019;266:1980–7.