08 October 2024 by Paediatric Neurology
Dr. Vanessa Ng
Overview of hereditary neuropathies
Charcot-Marie-Tooth disease: Genetics, clinical features, and diagnosis
Cavaletti, Guido et al. Toxic medications in Charcot-Marie-Tooth patients: A systematic review. Journal of the peripheral nervous system : JPNS vol. 28,3 (2023): 295-307. doi:10.1111/jns.12566
Attarian, Shahram et al. Hereditary neuropathy with liability to pressure palsies. Journal of neurology vol. 267,8 (2020): 2198-2206. doi:10.1007/s00415-019-09319-8
Biondo, Elisa D et al. Diseases caused by mutations in the Na+/K+ pump a1 gene ATP1A1 American journal of physiology. Cell physiology vol. 321,2 (2021): C394-C408. doi:10.1152/ajpcell.00059.2021
Cinarli Yuksel, Feride et al. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease. Journal of neurology vol. 270,5 (2023): 2576-2590. doi:10.1007/s00415-023-11581-w
Lassuthova, Petra et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American journal of human genetics vol. 102,3 (2018): 505-514. doi:10.1016/j.ajhg.2018.01.023
Fernandez-Garcia, Miguel A et al. Genetic neuropathies presenting with CIDP-like features in childhood. Neuromuscular disorders : NMD vol. 31,2 (2021): 113-122. doi:10.1016/j.nmd.2020.11.013
Zheng, Yongsheng et al. Efficacy of hematopoietic stem cell transplantation treatment in refractory chronic inflammatory demyelinating polyradiculoneuropathy: a systematic review and meta-analysis. European journal of neurology vol. 30,8 (2023): 2570-2582. doi:10.1111/ene.15857
Nagashima, Takahide et al. Continuous spectrum of pharyngeal-cervical-brachial variant of Guillain-Barré syndrome. Archives of neurology vol. 64,10 (2007): 1519-23. doi:10.1001/archneur.64.10.1519
Krishnakumar, Aparna et al. Guillain-Barré Syndrome with Preserved Reflexes in a Child after COVID-19 Infection. Indian journal of pediatrics vol. 88,8 (2021): 831-832. doi:10.1007/s12098-021-03792-8
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