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- [21] Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutationNEUROLOGICAL SCIENCES, 2018, 39 (09) : 1547 - 1550Konstantopoulos, KostasZamba-Papanicolaou, EleniChristodoulou, Kyproula
- [22] Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutationNeurological Sciences, 2018, 39 : 1547 - 1550Kostas KonstantopoulosEleni Zamba-PapanicolaouKyproula Christodoulou
- [23] Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegiaJOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 335 (1-2) : 112 - 117Zhao, WeiZhu, Qing-YanZhang, Jia-TangLiu, HuiWang, Li-JuanChen, Zhi-QiangGuan, Li-PingHuang, Xu-ShengYang, LingYu, Sheng-Yuan
- [24] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case reportWORLD JOURNAL OF CLINICAL CASES, 2023, 11 (14) : 3288 - 3294Wang, JieBu, Wei-TingZhu, Mei-JiaTang, Ji-YouLiu, Xiao-Min
- [25] Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matterNEUROPATHOLOGY, 2005, 25 (04) : 346 - 352Kuru, SSakai, MKonagaya, MYoshida, MHashizume, Y
- [26] A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumneurogenetics, 2010, 11 : 441 - 448Amir BoukhrisImed FekiNizar ElleuchMohamed Imed MiladiAnne Boland-AugéJérémy TruchettoEmeline MundwillerNadia JezequelDiana ZelenikaChokri MhiriAlexis BriceGiovanni Stevanin
- [27] A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumNEUROGENETICS, 2010, 11 (04) : 441 - 448Boukhris, AmirFeki, ImedElleuch, NizarMiladi, Mohamed ImedBoland-Auge, AnneTruchetto, JeremyMundwiller, EmelineJezequel, NadiaZelenika, DianaMhiri, ChokriBrice, AlexisStevanin, Giovanni
- [28] A case report of a woman with young onset cognitive impairment associated with hereditary spastic paraplegia due to a mutation in the SPAST geneJOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 367 : 131 - 132Tisher, AnnyaSalardini, Arash
- [29] NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-SubgroupBMC MEDICAL GENETICS, 2017, 18Elsaid, Mahmoud F.Ibrahim, KhalidChalhoub, NaderElsotouhy, AhmedEl Mudehki, NooraAleem, Alice Abdel
- [30] Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportBMC Neurology, 18Xiaoqian ZhangLei ZhangYanqing WuGang LiShengcai ChenYuanpeng XiaHongge Li