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| Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran |
| Sajad Rafiee Komachali, Zakieh Siahpoosh, Mansoor Salehi |
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Genomics Inform. 2022;20(3):e30 Published online September 30, 2022 DOI: https://doi.org/10.5808/gi.22030 |
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Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran Genomics & Informatics. 2022;20(3):e30  Erratum: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing Genetics in Medicine. 2016;18(1):108 Novel mutation in SMPD1 gene found by whole-exome sequencing in Niemann-Pick disease patient Gene Reports. 2022;29:101692 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia Clinical Genetics. 2013;85(2):154-158 CHRNG gene mutations found by whole exome sequencing are related to recurrent pregnancy loss Human Gene. 2023;36:201167 Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese Population . 2020; Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum Frontiers in Integrative Neuroscience. 2023;17: Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese Population . 2020; Novel mutations in SPG11
cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism Movement Disorders. 2011;26(3):553-556 Two novel mutations in theSPG11gene causing hereditary spastic paraplegia associated with thin corpus callosum Movement Disorders. 2008;23(6):917-919 |
