Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 14

1.

Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.

Solowska JM, D'Rozario M, Jean DC, Davidson MW, Marenda DR, Baas PW.

J Neurosci. 2014 Jan 29;34(5):1856-67. doi: 10.1523/JNEUROSCI.3309-13.2014.

PMID:
24478365
[PubMed - indexed for MEDLINE]
2.

Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.

Chang J, Lee S, Blackstone C.

Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14954-9. doi: 10.1073/pnas.1307391110. Epub 2013 Aug 22.

PMID:
23969831
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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]
4.

Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.

Feng Y, Ke X, Zhai M, Xin Q, Gong Y, Liu Q.

Singapore Med J. 2013 May;54(5):251-4.

PMID:
23716148
[PubMed - indexed for MEDLINE]
Free Article
5.

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P.

JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. Review.

PMID:
23400676
[PubMed - indexed for MEDLINE]
6.

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.

Guthrie G, Pfeffer G, Bailie M, Bradshaw K, Browning AC, Horvath R, Chinnery PF, Yu-Wai-Man P.

J Neurol. 2013 Mar;260(3):906-9. doi: 10.1007/s00415-012-6780-3. Epub 2012 Dec 13. No abstract available.

PMID:
23238845
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes.

Wiethoff S, Zhour A, Schöls L, Fischer MD.

BMC Neurol. 2012 Nov 23;12:143. doi: 10.1186/1471-2377-12-143.

PMID:
23176075
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY, Fu SC, Chang YY, Wu-Chou YH, Lai SC, Chen RS, Lu CS.

J Formos Med Assoc. 2012 Jul;111(7):380-5. doi: 10.1016/j.jfma.2011.06.016. Epub 2012 May 30.

PMID:
22817815
[PubMed - indexed for MEDLINE]
9.

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.

Fassier C, Tarrade A, Peris L, Courageot S, Mailly P, Dalard C, Delga S, Roblot N, Lefèvre J, Job D, Hazan J, Curmi PA, Melki J.

Dis Model Mech. 2013 Jan;6(1):72-83. doi: 10.1242/dmm.008946. Epub 2012 Jul 5.

PMID:
22773755
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.

Eckert T, Link S, Le DT, Sobczak JP, Gieseke A, Richter K, Woehlke G.

J Biol Chem. 2012 Jul 27;287(31):26278-90. doi: 10.1074/jbc.M111.291898. Epub 2012 May 27.

PMID:
22637577
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.

Henson BJ, Zhu W, Hardaway K, Wetzel JL, Stefan M, Albers KM, Nicholls RD.

PLoS One. 2012;7(5):e36505. doi: 10.1371/journal.pone.0036505. Epub 2012 May 4.

PMID:
22574173
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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]
13.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

Sulek A, Elert E, Rajkiewicz M, Zdzienicka E, Stepniak I, Krysa W, Zaremba J.

Neurol Sci. 2013 Feb;34(2):239-42. doi: 10.1007/s10072-011-0899-3. Epub 2011 Dec 28.

PMID:
22203332
[PubMed - indexed for MEDLINE]
14.

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.

Kumar KR, Sue CM, Burke D, Ng K.

Clin Neurophysiol. 2012 Jul;123(7):1454-9. doi: 10.1016/j.clinph.2011.11.080. Epub 2011 Dec 21.

PMID:
22192498
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk