PubMed for id: 324411

Year	Number of Results
1983	1
2001	1
2002	1
2005	1
2009	2
2010	3
2013	2
2014	4
2015	2
2016	1
2017	1
2018	1
2019	2
2020	3
2021	2
2023	0

1

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).

Graciani Z, Santos S, Macedo-Souza LI, Monteiro CB, Veras MI, Amorim S, Zatz M, Kok F. Graciani Z, et al. Arq Neuropsiquiatr. 2010 Feb;68(1):3-6. doi: 10.1590/s0004-282x2010000100002. Arq Neuropsiquiatr. 2010. PMID: 20339643 Free article.

2

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448

3

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M. Macedo-Souza LI, et al. Ann Neurol. 2005 May;57(5):730-7. doi: 10.1002/ana.20478. Ann Neurol. 2005. PMID: 15852396

4

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.

Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S. Galvão CRC, et al. BMC Neurol. 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. BMC Neurol. 2019. PMID: 31656170 Free PMC article.

5

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.

6

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

Amorim S, Heise CO, Santos S, Macedo-Souza LI, Zatz M, Kok F. Amorim S, et al. Muscle Nerve. 2014 Jan;49(1):131-3. doi: 10.1002/mus.24087. Epub 2013 Oct 25. Muscle Nerve. 2014. PMID: 24123118

7

Yagi T, Ito D, Suzuki N. Yagi T, et al. J Neuropathol Exp Neurol. 2016 Apr;75(4):299-305. doi: 10.1093/jnen/nlw009. Epub 2016 Mar 4. J Neuropathol Exp Neurol. 2016. PMID: 26945032 Review.

8

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.

Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Beetz C, et al. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11. Proc Natl Acad Sci U S A. 2013. PMID: 23479643 Free PMC article. Clinical Trial.

9

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.

de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP. de Freitas JL, et al. J Neurol Sci. 2020 Feb 15;409:116620. doi: 10.1016/j.jns.2019.116620. Epub 2019 Dec 6. J Neurol Sci. 2020. PMID: 31865189 Review.

10

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Lossos A, et al. Neurology. 2015 Feb 17;84(7):659-67. doi: 10.1212/WNL.0000000000001270. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609768

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