Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients-Reference-Cited by-同舟云学术

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Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

Published:2018-06-11 Issue:7 Volume:96 Page:701-712
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Lu Cong,Li Li-Xi,Dong Hai-Lin,Wei Qiao,Liu Zhi-Jun,Ni Wang,Gitler Aaron D.,Wu Zhi-Ying

Funder

the National Natural Science Foundation of China

the research foundation for distinguished scholar of Zhejiang University

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/article/10.1007/s00109-018-1655-4/fulltext.html

Reference40 articles.

1. de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB (2017) Hereditary spastic paraplegia: clinical and genetic hallmarks. Cerebellum 16:525–551

2. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151–1155

3. Tesson C, Koht J, Stevanin G (2015) Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet 134:511–538

4. Klebe S, Stevanin G, Depienne C (2015) Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol 171:505–530

5. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N et al (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39:366–372

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1. KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2024-04-10

2. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia;Movement Disorders;2024-01-31

3. Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype;CNS Neuroscience & Therapeutics;2023-11-27

4. Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice;neurogenetics;2023-05-03

5. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia;Annals of Clinical and Translational Neurology;2023-01-06

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