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Items: 12

1.

Infantile-onset ascending spastic paraplegia phenotype associated with SPAST mutation.

de Souza PV, Bortholin T, Naylor FG, de Rezende Pinto WB, Oliveira AS.

J Neurol Sci. 2016 Dec 15;371:34-35. doi: 10.1016/j.jns.2016.10.017. Epub 2016 Oct 12. No abstract available.

PMID:
27871443
2.

Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.

Renvoisé B, Malone B, Falgairolle M, Munasinghe J, Stadler J, Sibilla C, Park SH, Blackstone C.

Hum Mol Genet. 2016 Dec 1;25(23):5111-5125. doi: 10.1093/hmg/ddw315.

PMID:
27638887
3.

A case report of a woman with young onset cognitive impairment associated with hereditary spastic paraplegia due to a mutation in the SPAST gene.

Tisher A, Salardini A.

J Neurol Sci. 2016 Aug 15;367:131-2. doi: 10.1016/j.jns.2016.05.057. Epub 2016 May 31. No abstract available.

PMID:
27423575
4.

Translation and validation into Brazilian Portuguese of the Spastic Paraplegia Rating Scale (SPRS).

Servelhere KR, Faber I, Coan AC, França M Junior.

Arq Neuropsiquiatr. 2016 Jun;74(6):489-94. doi: 10.1590/0004-282X20160047.

5.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Polymeris AA, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A, Gika AD, Youroukos S, Skouteli E, Santorelli FM, Pons R.

J Neurol. 2016 Aug;263(8):1604-11. doi: 10.1007/s00415-016-8179-z. Epub 2016 Jun 3.

PMID:
27260292
6.

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM.

J Neurol Sci. 2016 May 15;364:116-21. doi: 10.1016/j.jns.2016.03.018. Epub 2016 Mar 12.

PMID:
27084228
7.

Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr.

Eur J Neurol. 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839.

PMID:
26806216
8.

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.

Julien C, Lissouba A, Madabattula S, Fardghassemi Y, Rosenfelt C, Androschuk A, Strautman J, Wong C, Bysice A, O'sullivan J, Rouleau GA, Drapeau P, Parker JA, Bolduc FV.

Hum Mol Genet. 2016 Mar 15;25(6):1088-99. doi: 10.1093/hmg/ddv632. Epub 2016 Jan 6.

9.

Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia.

Zempel H, Mandelkow EM.

Mol Neurodegener. 2015 Dec 21;10:68. doi: 10.1186/s13024-015-0064-1. Review.

10.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Elert-Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, Rudzinska M, Wasielewska A, Pilch J, Kubalska J, Lipczynska-Lojkowska W, Kulczycki J, Kurdziel K, Sikorska A, Beetz C, Zaremba J, Sulek A.

J Neurol Sci. 2015 Dec 15;359(1-2):35-9. doi: 10.1016/j.jns.2015.10.030. Epub 2015 Oct 17.

PMID:
26671083
11.

Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.

Wang K, Zhao G.

J Neurol Sci. 2015 Oct 15;357(1-2):282-4. doi: 10.1016/j.jns.2015.07.003. Epub 2015 Jul 3. Review.

PMID:
26165777
12.

Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Solowska JM, Baas PW.

Brain. 2015 Sep;138(Pt 9):2471-84. doi: 10.1093/brain/awv178. Epub 2015 Jun 20. Review.

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