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Items: 1 to 20 of 382

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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.

9.

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
10.

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
11.

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.

Li YS, Mao CY, Shi CH, Song B, Wu J, Qin J, Ji Y, Niu HX, Luo HY, Shang DD, Sun SL, Xu YM.

J Clin Neurosci. 2015 Jul;22(7):1150-4. doi: 10.1016/j.jocn.2015.01.014. Epub 2015 May 21.

PMID:
26003865
12.

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
13.

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
14.

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. Epub 2010 Jul 1.

PMID:
20593214
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.

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
17.

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
18.

SPG11 compound mutations in spastic paraparesis with thin corpus callosum.

Samaranch L, Riverol M, Masdeu JC, Lorenzo E, Vidal-Taboada JM, Irigoyen J, Pastor MA, de Castro P, Pastor P.

Neurology. 2008 Jul 29;71(5):332-6. doi: 10.1212/01.wnl.0000319646.23052.d1.

PMID:
18663179
19.

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.

20.

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J.

Ann Neurol. 2007 Dec;62(6):656-65.

PMID:
18067136
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