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4. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Lossos A; Stevanin G; Meiner V; Argov Z; Bouslam N; Newman JP; Gomori JM; Klebe S; Lerer I; Elleuch N; Silverstein S; Durr A; Abramsky O; Ben-Nariah Z; Brice A Arch Neurol; 2006 May; 63(5):756-60. PubMed ID: 16682547 [TBL] [Abstract][Full Text] [Related]
5. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. Blumkin L; Lerman-Sagie T; Lev D; Yosovich K; Leshinsky-Silver E J Neurol Sci; 2011 Jun; 305(1-2):67-70. PubMed ID: 21440262 [TBL] [Abstract][Full Text] [Related]
6. A case report of SPG11 mutations in a Chinese ARHSP-TCC family. Zhang L; McFarland KN; Jiao J; Jiao Y BMC Neurol; 2016 Jun; 16():87. PubMed ID: 27256065 [TBL] [Abstract][Full Text] [Related]
7. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15. Shibasaki Y; Tanaka H; Iwabuchi K; Kawasaki S; Kondo H; Uekawa K; Ueda M; Kamiya T; Katayama Y; Nakamura A; Takashima H; Nakagawa M; Masuda M; Utsumi H; Nakamuro T; Tada K; Kurohara K; Inoue K; Koike F; Sakai T; Tsuji S; Kobayashi H Ann Neurol; 2000 Jul; 48(1):108-12. PubMed ID: 10894224 [TBL] [Abstract][Full Text] [Related]
8. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Paisan-Ruiz C; Nath P; Wood NW; Singleton A; Houlden H Eur J Neurol; 2008 Oct; 15(10):1065-70. PubMed ID: 18717728 [TBL] [Abstract][Full Text] [Related]
9. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. Boukhris A; Stevanin G; Feki I; Denis E; Elleuch N; Miladi MI; Truchetto J; Denora P; Belal S; Mhiri C; Brice A Arch Neurol; 2008 Mar; 65(3):393-402. PubMed ID: 18332254 [TBL] [Abstract][Full Text] [Related]
11. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. França MC; D'Abreu A; Maurer-Morelli CV; Seccolin R; Appenzeller S; Alessio A; Damasceno BP; Nucci A; Cendes F; Lopes-Cendes I Mov Disord; 2007 Aug; 22(11):1556-62. PubMed ID: 17516453 [TBL] [Abstract][Full Text] [Related]
12. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. Olmez A; Uyanik G; Ozgül RK; Gross C; Cirak S; Elibol B; Anlar B; Winner B; Hehr U; Topaloglu H; Winkler J Neuropediatrics; 2006 Apr; 37(2):59-66. PubMed ID: 16773502 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Stevanin G; Santorelli FM; Azzedine H; Coutinho P; Chomilier J; Denora PS; Martin E; Ouvrard-Hernandez AM; Tessa A; Bouslam N; Lossos A; Charles P; Loureiro JL; Elleuch N; Confavreux C; Cruz VT; Ruberg M; Leguern E; Grid D; Tazir M; Fontaine B; Filla A; Bertini E; Durr A; Brice A Nat Genet; 2007 Mar; 39(3):366-72. PubMed ID: 17322883 [TBL] [Abstract][Full Text] [Related]
15. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Paisan-Ruiz C; Dogu O; Yilmaz A; Houlden H; Singleton A Neurology; 2008 Apr; 70(16 Pt 2):1384-9. PubMed ID: 18337587 [TBL] [Abstract][Full Text] [Related]
16. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Stevanin G; Azzedine H; Denora P; Boukhris A; Tazir M; Lossos A; Rosa AL; Lerer I; Hamri A; Alegria P; Loureiro J; Tada M; Hannequin D; Anheim M; Goizet C; Gonzalez-Martinez V; Le Ber I; Forlani S; Iwabuchi K; Meiner V; Uyanik G; Erichsen AK; Feki I; Pasquier F; Belarbi S; Cruz VT; Depienne C; Truchetto J; Garrigues G; Tallaksen C; Tranchant C; Nishizawa M; Vale J; Coutinho P; Santorelli FM; Mhiri C; Brice A; Durr A; Brain; 2008 Mar; 131(Pt 3):772-84. PubMed ID: 18079167 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. Riverol M; Samaranch L; Pascual B; Pastor P; Irigoyen J; Pastor MA; de Castro P; Masdeu JC J Neuroimaging; 2009 Jan; 19(1):52-60. PubMed ID: 19040626 [TBL] [Abstract][Full Text] [Related]
19. Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study. Alfaidi N; Sobahy T; Ali Q; Al Said Y; Karim G; Khan H; Kurdi K; Cupler E J Neurol Sci; 2022 Mar; 434():120144. PubMed ID: 35074613 [TBL] [Abstract][Full Text] [Related]
20. Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum. Ma J; Xiong L; Chang Y; Jing X; Huang W; Hu B; Shi X; Xu W; Wang Y; Li X Parkinsonism Relat Disord; 2014 Feb; 20(2):256-9. PubMed ID: 24315199 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]