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Items: 1 to 20 of 111

1.

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.

Yoon WT, Lee WY, Lee ST, Ahn JY, Ki CS, Cho JW.

Eur J Neurol. 2012 Jan;19(1):e7-8. doi: 10.1111/j.1468-1331.2011.03569.x. No abstract available.

PMID:
22175763
2.

Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

Kim SM, Lee JS, Kim S, Kim HJ, Kim MH, Lee KM, Hong YH, Park KS, Sung JJ, Lee KW.

J Neurol. 2009 Oct;256(10):1714-8. doi: 10.1007/s00415-009-5189-0. Epub 2009 Jun 10.

PMID:
19513778
3.

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

Giannoccaro MP, Liguori R, Arnoldi A, Donadio V, Avoni P, Bassi MT.

J Neurol. 2014 Sep;261(9):1825-7. doi: 10.1007/s00415-014-7443-3. Epub 2014 Jul 25. No abstract available.

PMID:
25059394
4.

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Cao L, Rong TY, Huang XJ, Fang R, Wu ZY, Tang HD, Chen SD.

Parkinsonism Relat Disord. 2013 Mar;19(3):367-70. doi: 10.1016/j.parkreldis.2012.10.007. Epub 2012 Oct 31.

PMID:
23121729
5.

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 30;23(6):917-9. doi: 10.1002/mds.21942. No abstract available.

PMID:
18361476
6.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS.

J Neurol Sci. 2008 Dec 15;275(1-2):92-9. doi: 10.1016/j.jns.2008.07.038. Epub 2008 Oct 2.

PMID:
18835492
7.

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 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12.

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. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20.

PMID:
18717728
9.

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

Orlacchio A, Montieri P, Babalini C, Gaudiello F, Bernardi G, Kawarai T.

J Neurol. 2011 Jul;258(7):1361-3. doi: 10.1007/s00415-011-5934-z. Epub 2011 Feb 19. No abstract available.

PMID:
21336785
10.

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. Epub 2007 Feb 18.

PMID:
17322883
11.

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 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12.

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 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928.

PMID:
19194956
13.

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.

Zhao W, Zhu QY, Zhang JT, Liu H, Wang LJ, Chen ZQ, Guan LP, Huang XS, Yang L, Yu SY.

J Neurol Sci. 2013 Dec 15;335(1-2):112-7. doi: 10.1016/j.jns.2013.09.004. Epub 2013 Sep 10.

PMID:
24090761
14.

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. doi: 10.1016/j.parkreldis.2013.11.004. Epub 2013 Nov 14.

PMID:
24315199
15.

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Guidubaldi A, Piano C, Santorelli FM, Silvestri G, Petracca M, Tessa A, Bentivoglio AR.

Mov Disord. 2011 Feb 15;26(3):553-6. doi: 10.1002/mds.23552. Epub 2011 Mar 4.

PMID:
21381113
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; SPATAX consortium.

Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

17.

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 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25.

PMID:
21440262
18.

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, Marienhagen J, Hehr U, Winkler J.

Arch Neurol. 2004 Jan;61(1):117-21.

PMID:
14732628
19.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Crimella C, Arnoldi A, Crippa F, Mostacciuolo ML, Boaretto F, Sironi M, D'Angelo MG, Manzoni S, Piccinini L, Turconi AC, Toscano A, Musumeci O, Benedetti S, Fazio R, Bresolin N, Daga A, Martinuzzi A, Bassi MT.

J Med Genet. 2009 May;46(5):345-51. doi: 10.1136/jmg.2008.063321. Epub 2009 Feb 5.

PMID:
19196735
20.

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.

PMID:
16682547
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