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11. Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family. Tian X; Wang M; Zhang K; Zhang X Can J Neurol Sci; 2016 Nov; 43(6):833-840. PubMed ID: 27018819 [TBL] [Abstract][Full Text] [Related]
12. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Orlén H; Melberg A; Raininko R; Kumlien E; Entesarian M; Söderberg P; Påhlman M; Darin N; Kyllerman M; Holmberg E; Engler H; Eriksson U; Dahl N Am J Med Genet B Neuropsychiatr Genet; 2009 Oct; 150B(7):984-92. PubMed ID: 19194956 [TBL] [Abstract][Full Text] [Related]
13. Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum. Zhang SS; Chen Q; Chen XP; Wang JG; Burgunder JM; Shang HF; Burgunder JM; Yang Y Mov Disord; 2008 Apr; 23(6):917-9. PubMed ID: 18361476 [No Abstract] [Full Text] [Related]
14. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Simpson MA; Cross H; Proukakis C; Pryde A; Hershberger R; Chatonnet A; Patton MA; Crosby AH Am J Hum Genet; 2003 Nov; 73(5):1147-56. PubMed ID: 14564668 [TBL] [Abstract][Full Text] [Related]
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16. Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings. Okuda B; Iwamoto Y; Tachibana H Acta Neurol Scand; 2002 Oct; 106(4):222-4. PubMed ID: 12225319 [TBL] [Abstract][Full Text] [Related]
17. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. Abdel Aleem A; Abu-Shahba N; Swistun D; Silhavy J; Bielas SL; Sattar S; Gleeson JG; Zaki MS Eur J Med Genet; 2011; 54(1):82-5. PubMed ID: 20971220 [TBL] [Abstract][Full Text] [Related]
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20. Complicated hereditary spastic paraplegia with thin corpus callosum: variation of phenotypic expression over time. Sperfeld AD; Kassubek J; Crosby AH; Winner B; Ludolph AC; Uttner I; Hanemann CO J Neurol; 2004 Oct; 251(10):1285-7. PubMed ID: 15503116 [No Abstract] [Full Text] [Related] [Next] [New Search]