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Items: 1 to 20 of 152

1.

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH.

Am J Hum Genet. 2003 Nov;73(5):1147-56. Epub 2003 Oct 16.

2.

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
3.

Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

Hanna MC, Blackstone C.

Neurogenetics. 2009 Jul;10(3):217-28. doi: 10.1007/s10048-009-0172-6. Epub 2009 Jan 31.

PMID:
19184135
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.

PMID:
16682547
5.

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
6.

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
7.

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
8.

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B.

Brain. 2006 Sep;129(Pt 9):2332-40. Epub 2006 May 3.

9.

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

Heinzlef O, Paternotte C, Mahieux F, Prud'homme JF, Dien J, Madigand M, Pouget J, Weissenbach J, Roullet E, Hazan J.

J Med Genet. 1998 Feb;35(2):89-93.

10.

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH.

J Neurol. 2004 Sep;251(9):1105-10.

PMID:
15372254
11.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
12.

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML.

Am J Hum Genet. 2000 Aug;67(2):504-9. Epub 2000 Jun 30.

13.

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
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. Epub 2007 Feb 18.

PMID:
17322883
15.

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.

16.

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
17.

Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.

Gucuyener K, Hirfanoglu T, Ok I, Cansu A, Serdaroglu A.

J Child Neurol. 2007 Feb;22(2):214-7.

PMID:
17621486
18.

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
19.

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
20.

[Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum].

Iwabuchi K, Kubota Y, Hanihara T, Nagatomo H.

No To Shinkei. 1994 Oct;46(10):941-7. Review. Japanese.

PMID:
7826709
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