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Results: 8

1.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Fink JK.

Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Review.

PMID:
23897027
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H.

J Neurol. 2013 Sep;260(9):2414-6. doi: 10.1007/s00415-013-7044-6. Epub 2013 Jul 24. No abstract available.

PMID:
23881105
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ.

J Neurol. 2013 Jul;260(7):1765-9. doi: 10.1007/s00415-013-6870-x. Epub 2013 Mar 2.

PMID:
23455931
[PubMed - indexed for MEDLINE]
4.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G.

J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1. Review.

PMID:
22554690
[PubMed - indexed for MEDLINE]
5.

A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.

Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.

Chin Med J (Engl). 2008 Mar 5;121(5):430-4.

PMID:
18364116
[PubMed - indexed for MEDLINE]
Free Article
6.

High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.

Chin SF, Teschendorff AE, Marioni JC, Wang Y, Barbosa-Morais NL, Thorne NP, Costa JL, Pinder SE, van de Wiel MA, Green AR, Ellis IO, Porter PL, Tavaré S, Brenton JD, Ylstra B, Caldas C.

Genome Biol. 2007;8(10):R215.

PMID:
17925008
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA.

Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1.

PMID:
17160902
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.

Hedera P, Eldevik OP, Maly P, Rainier S, Fink JK.

Neuroradiology. 2005 Oct;47(10):730-4. Epub 2005 Sep 6.

PMID:
16143870
[PubMed - indexed for MEDLINE]

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