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Results: 1 to 20 of 85

Similar articles for PubMed (Select 20108361)

1.

Identification of a de novo mutation in SPG11.

Denora PS, Brockmann K, Ciccolella M, Truchetto J, Stevanin G, Santorelli FM.

Mov Disord. 2010 Mar 15;25(4):501-3. doi: 10.1002/mds.22964. No abstract available.

PMID:
20108361
2.

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.

Lee MJ, Cheng TW, Hua MS, Pan MK, Wang J, Stephenson DA, Yang CC.

J Neurol Neurosurg Psychiatry. 2008 May;79(5):607-9. doi: 10.1136/jnnp.2007.136390. No abstract available.

PMID:
18408091
3.

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
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.

Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.

Winner B, Gross C, Uyanik G, Schulte-Mattler W, Lürding R, Marienhagen J, Bogdahn U, Windpassinger C, Hehr U, Winkler J.

Clin Neurol Neurosurg. 2006 Oct;108(7):692-8. Epub 2005 Aug 15.

PMID:
16102895
6.

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM.

J Neurol Sci. 2009 Feb 15;277(1-2):22-5. doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13.

PMID:
19084844
7.

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
8.

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
9.

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA.

Neurosciences (Riyadh). 2012 Jan;17(1):48-52.

PMID:
22246010
10.

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
11.

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
12.

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
13.

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
14.

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
15.

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM.

Neurogenetics. 2006 Jul;7(3):149-56. Epub 2006 May 13.

PMID:
16699786
16.

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.

PMID:
10894224
17.

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
18.

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
19.

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
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. Epub 2009 Feb 9.

PMID:
19224311
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