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Items: 1 to 20 of 419

1.

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P.

J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1402-4. doi: 10.1136/jnnp.2008.167528.

PMID:
19917823
2.

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. doi: 10.1001/archneur.65.3.393.

PMID:
18332254
3.

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.

PMID:
18835492
4.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C.

Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121.

PMID:
24833714
5.

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
6.

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 callosum.

Boukhris A, Feki I, Elleuch N, Miladi MI, Boland-Augé A, Truchetto J, Mundwiller E, Jezequel N, Zelenika D, Mhiri C, Brice A, Stevanin G.

Neurogenetics. 2010 Oct;11(4):441-8. doi: 10.1007/s10048-010-0249-2.

PMID:
20593214
7.

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.

PMID:
19513778
8.

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.

PMID:
16773502
9.

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.

Brockmann K, Simpson MA, Faber A, Bönnemann C, Crosby AH, Gärtner J.

Neuropediatrics. 2005 Aug;36(4):274-8.

PMID:
16138254
10.

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C.

Clin Genet. 2009 Jun;75(6):527-36. doi: 10.1111/j.1399-0004.2009.01176.x.

PMID:
19438933
11.

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
12.

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.

PMID:
21440262
13.

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA.

Neurology. 2006 Apr 25;66(8):1230-4.

PMID:
16636240
14.

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi GP.

Neurogenetics. 2007 Nov;8(4):301-5.

PMID:
17717710
15.

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.

PMID:
24315199
16.

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.

PMID:
24090761
17.

Genetics of hereditary spastic paraplegias.

Schüle R, Schöls L.

Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Review.

PMID:
22266886
18.

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G.

Neurogenetics. 2007 Nov;8(4):307-15.

PMID:
17661097
19.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G.

Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59.

PMID:
19805727
20.

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C.

J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3.

PMID:
19224311

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