A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-021-00941-x.pdf
Reference19 articles.
1. Murala S, Nagarajan E, Bollu PC. Hereditary spastic paraplegia. Neurol Sci. 2021;42:883–94.
2. Fink JK. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126:307–28.
3. Sayad A, Akbari MT, Hesami O, Ghafouri-Fard S, Taheri M. Identification of a mutation in SPG11 in an iranian patient with spastic paraplegia and ears of the lynx sign. J Mol Neurosci. 2020;70:959–61.
4. Schüle R, Schöls L. Genetics of hereditary spastic paraplegias. Semin Neurol. 2011;31:484–93.
5. Svenstrup K, Møller RS, Christensen J, Budtz‐Jørgensen E, Gilling M, Nielsen JE. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. Eur J Neurol. 2011;18:1197–9.
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia;Annals of Clinical and Translational Neurology;2023-01-06
2. Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene;Journal of Clinical Neuroscience;2022-06
3. Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6;Frontiers in Genetics;2022-04-08
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