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Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
Ja-Young Oh, Hyun Jung Do, Seungok Lee, Ja-Hyun Jang, Eun-Hae Cho, Dae-Hyun Jang
Ann Rehabil Med. 2016;40(6):1129-1134.   Published online December 30, 2016
DOI: https://doi.org/10.5535/arm.2016.40.6.1129

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Identification of a HeterozygousSPG11Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
Annals of Rehabilitation Medicine. 2016;40(6):1129   Crossref logo
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Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
Clinical Genetics. 2013;85(2):154-158   Crossref logo
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Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene
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Exome sequencing sheds light on hereditary spastic paraplegia
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Increased baroreceptor sensitivity in a patient with hereditary spastic paraplegia – type SPG11
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Mild Cognitive Impairment in novel SPG11 Mutation-Related Sporadic Hereditary Spastic Paraplegia with Thin Corpus Callosum
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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
BMC Neurology. 2018;18(1):   Crossref logo
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SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia
Clinica Chimica Acta. 2015;445:1   Crossref logo
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Case report: SPG11 hereditary spastic paraplegia with no thinning in the corpus callosum
Journal of the Neurological Sciences. 2019;405:38-39   Crossref logo
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First patient with hereditary spastic paraplegia type 8 in Poland
Clinical Case Reports. 2017;5(9):1468-1470   Crossref logo
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