TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum
Author:
Funder
Higher Education Commission, Pakistan
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10048-017-0508-6.pdf
Reference20 articles.
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3. Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Gunther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH (2016) Novel genetic, clinical, and pathomechanistic insights into TFG-associated hereditary spastic paraplegia. Hum Mutat. doi: 10.1002/humu.23060
4. Blackstone C (2012) Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci 35:25–47. doi: 10.1146/annurev-neuro-062111-150400
5. Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nurnberg G, Altmuller J, Saxena R, Chapman ER, Dent EW, Nurnberg P, Audhya A (2013) Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A 110(13):5091–5096. doi: 10.1073/pnas.1217197110
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1. Identification and analyses of exonic and copy number variants in spastic paraplegia;Scientific Reports;2024-06-21
2. TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance;Proceedings of the National Academy of Sciences;2022-09-26
3. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature;Journal of Human Genetics;2021-03-25
4. A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2;Brain and Behavior;2020-07-14
5. Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum;Parkinsonism & Related Disorders;2019-07
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