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Items: 13

1.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Bencheikh BO.

Am J Hum Genet. 2016 May 5;98(5):1038-46. doi: 10.1016/j.ajhg.2016.04.002.

PMID:
27153400
2.

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.

Hensiek A, Kirker S, Reid E.

J Neurol. 2015 Jul;262(7):1601-12. doi: 10.1007/s00415-014-7598-y. Epub 2014 Dec 6.

3.

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C.

PLoS One. 2014 Jan 22;9(1):e86340. doi: 10.1371/journal.pone.0086340. eCollection 2014.

4.

Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.

Koul R, Al-Murshedi FM, Al-Azri FM, Mani R, Abdelrahim RA, Koul V, Alfutaisi AM.

Sultan Qaboos Univ Med J. 2013 Aug;13(3):371-9. Epub 2013 Jun 25.

5.

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. Erratum in: J Neurol. 2016 Feb;263(2):419-20.

6.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

7.

Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.

Mancuso G, Barth E, Crivello P, Rugarli EI.

PLoS One. 2012;7(5):e36337. doi: 10.1371/journal.pone.0036337. Epub 2012 May 1.

8.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P, Griffiths PG, Chinnery PF.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26. Review.

9.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN.

Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.

10.

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies.

Smits P, Smeitink J, van den Heuvel L.

J Biomed Biotechnol. 2010;2010:737385. doi: 10.1155/2010/737385. Epub 2010 Apr 13. Review.

11.

Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.

Karlberg T, van den Berg S, Hammarström M, Sagemark J, Johansson I, Holmberg-Schiavone L, Schüler H.

PLoS One. 2009 Oct 20;4(10):e6975. doi: 10.1371/journal.pone.0006975.

12.

The in-depth evaluation of suspected mitochondrial disease.

Mitochondrial Medicine Society's Committee on Diagnosis, Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK.

Mol Genet Metab. 2008 May;94(1):16-37. doi: 10.1016/j.ymgme.2007.11.018. Epub 2008 Feb 1. Review.

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.

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