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Results: 14

Cited In for PubMed (Select 14597333)

1.

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia.

Gao Y, Chi L, Jin Y, Nan G.

Neural Regen Res. 2012 Jan 15;7(2):91-5. doi: 10.3969/j.issn.1673-5374.2012.02.002.

2.

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY, Chang YY, Yeh TH, Lai SC, Liou CW, Kuo HC, Wu YR, Lyu RK, Hung JW, Chang YC, Lu CS.

BMC Neurol. 2014 Nov 25;14(1):216. doi: 10.1186/s12883-014-0216-x.

3.

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Zhu PP, Denton KR, Pierson TM, Li XJ, Blackstone C.

Hum Mol Genet. 2014 Nov 1;23(21):5638-48. doi: 10.1093/hmg/ddu280. Epub 2014 Jun 6.

PMID:
24908668
4.

The power of yeast to model diseases of the powerhouse of the cell.

Baile MG, Claypool SM.

Front Biosci (Landmark Ed). 2013 Jan 1;18:241-78. Review.

5.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

6.

Membrane fusion by the GTPase atlastin requires a conserved C-terminal cytoplasmic tail and dimerization through the middle domain.

Moss TJ, Andreazza C, Verma A, Daga A, McNew JA.

Proc Natl Acad Sci U S A. 2011 Jul 5;108(27):11133-8. doi: 10.1073/pnas.1105056108. Epub 2011 Jun 20.

7.

Fusing a lasting relationship between ER tubules.

Moss TJ, Daga A, McNew JA.

Trends Cell Biol. 2011 Jul;21(7):416-23. doi: 10.1016/j.tcb.2011.03.009. Epub 2011 May 6. Review.

8.

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

McCorquodale DS 3rd, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S.

Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x.

9.
10.

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y.

Am J Hum Genet. 2008 Dec;83(6):752-9. doi: 10.1016/j.ajhg.2008.11.003.

11.

Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.

Solowska JM, Morfini G, Falnikar A, Himes BT, Brady ST, Huang D, Baas PW.

J Neurosci. 2008 Feb 27;28(9):2147-57. doi: 10.1523/JNEUROSCI.3159-07.2008.

12.

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Züchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA.

Am J Hum Genet. 2006 Aug;79(2):365-9. Epub 2006 May 26.

13.

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.

Pirozzi M, Quattrini A, Andolfi G, Dina G, Malaguti MC, Auricchio A, Rugarli EI.

J Clin Invest. 2006 Jan;116(1):202-8. Epub 2005 Dec 15. Erratum in: J Clin Invest. 2014 Feb;124(2):871.

14.

Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.

Orso G, Martinuzzi A, Rossetto MG, Sartori E, Feany M, Daga A.

J Clin Invest. 2005 Nov;115(11):3026-34.

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