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Items: 1 to 20 of 34

1.

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.

Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F.

BMC Neurosci. 2010 Apr 28;11:55. doi: 10.1186/1471-2202-11-55.

2.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.

Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.

PMID:
20208537
3.

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.

Warnecke T, Duning T, Schirmacher A, Mohammadi S, Schwindt W, Lohmann H, Dziewas R, Deppe M, Ringelstein EB, Young P.

Mov Disord. 2010 Mar 15;25(4):413-20. doi: 10.1002/mds.22949.

PMID:
20108356
4.

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G.

J Neurosci. 2009 Jul 22;29(29):9244-54. doi: 10.1523/JNEUROSCI.1532-09.2009.

5.

MR imaging findings in autosomal recessive hereditary spastic paraplegia.

Hourani R, El-Hajj T, Barada WH, Hourani M, Yamout BI.

AJNR Am J Neuroradiol. 2009 May;30(5):936-40. doi: 10.3174/ajnr.A1483. Epub 2009 Feb 4.

6.

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Salinas S, Proukakis C, Crosby A, Warner TT.

Lancet Neurol. 2008 Dec;7(12):1127-38. doi: 10.1016/S1474-4422(08)70258-8. Review.

PMID:
19007737
7.

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

Brugman F, Scheffer H, Wokke JH, Nillesen WM, de Visser M, Aronica E, Veldink JH, van den Berg LH.

Neurology. 2008 Nov 4;71(19):1500-5. doi: 10.1212/01.wnl.0000319700.11606.21. Epub 2008 Sep 17.

PMID:
18799786
8.

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

Tzoulis C, Denora PS, Santorelli FM, Bindoff LA.

J Neurol. 2008 Aug;255(8):1142-4. doi: 10.1007/s00415-008-0858-y. Epub 2008 Jun 23.

PMID:
18563470
9.

The mitochondrial protease AFG3L2 is essential for axonal development.

Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, Malaguti M, Previtali S, Guénet JL, Quattrini A, Cox GA, Casari G.

J Neurosci. 2008 Mar 12;28(11):2827-36. doi: 10.1523/JNEUROSCI.4677-07.2008.

10.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
11.

Cognitive performance in pure and complicated hereditary spastic paraparesis: a neuropsychological and neuroimaging study.

Uttner I, Baumgartner A, Sperfeld AD, Kassubek J.

Neurosci Lett. 2007 May 29;419(2):158-61. Epub 2007 Apr 18.

PMID:
17485167
12.

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schöls L.

Neurology. 2006 Aug 8;67(3):430-4.

PMID:
16894103
13.

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.

Neurology. 2006 Mar 14;66(5):654-9.

PMID:
16534102
14.

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.

15.

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, Warner TT.

Brain. 2004 May;127(Pt 5):973-80. Epub 2004 Feb 25. Erratum in: Brain. 2004 Sep;127(Pt 9):2148.

PMID:
14985266
16.

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI.

J Clin Invest. 2004 Jan;113(2):231-42.

17.

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G.

J Cell Biol. 2003 Nov 24;163(4):777-87. Epub 2003 Nov 17.

18.

Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).

McDermott CJ, Roberts D, Tomkins J, Bushby KM, Shaw PJ.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun;4(2):96-9.

PMID:
14506940
19.

The hereditary spastic paraplegias: nine genes and counting.

Fink JK.

Arch Neurol. 2003 Aug;60(8):1045-9. Review.

PMID:
12925358
20.

Transcranial magnetic stimulation study in hereditary spastic paraparesis.

Nardone R, Tezzon F.

Eur Neurol. 2003;49(4):234-7.

PMID:
12736541

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