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Results: 1 to 20 of 55

Select item 227491841.

Neurotransmitter abnormalities and response to supplementation in SPG11.

Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C.

Mol Genet Metab. 2012 Sep;107(1-2):229-33. doi: 10.1016/j.ymgme.2012.05.020. Epub 2012 Jun 1.

PMID:: 22749184; [PubMed - indexed for MEDLINE]

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Select item 226965812.

White and grey matter abnormalities in patients with SPG11 mutations.

França MC Jr, Yasuda CL, Pereira FR, D'Abreu A, Lopes-Ramos CM, Rosa MV, Cendes F, Lopes-Cendes I.

J Neurol Neurosurg Psychiatry. 2012 Aug;83(8):828-33. doi: 10.1136/jnnp-2011-300129. Epub 2012 Jun 13.

PMID:: 22696581; [PubMed - indexed for MEDLINE]

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Select item 225546903.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G.

J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1. Review.

PMID:: 22554690; [PubMed - indexed for MEDLINE]

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Select item 222668864.

Genetics of hereditary spastic paraplegias.

Schüle R, Schöls L.

Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Epub 2012 Jan 21. Review.

PMID:: 22266886; [PubMed - indexed for MEDLINE]

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Select item 222460105.

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA.

Neurosciences (Riyadh). 2012 Jan;17(1):48-52.

PMID:: 22246010; [PubMed - indexed for MEDLINE]

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Select item 222374446.

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.

Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I.

Genet Med. 2012 Jan;14(1):143-51. doi: 10.1038/gim.2011.7.

PMID:: 22237444; [PubMed - indexed for MEDLINE]

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Select item 221757637.

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.

Yoon WT, Lee WY, Lee ST, Ahn JY, Ki CS, Cho JW.

Eur J Neurol. 2012 Jan;19(1):e7-8. doi: 10.1111/j.1468-1331.2011.03569.x. No abstract available.

PMID:: 22175763; [PubMed - indexed for MEDLINE]

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Select item 221548218.

Exome sequencing reveals SPG11 mutations causing juvenile ALS.

Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA.

Neurobiol Aging. 2012 Apr;33(4):839.e5-9. doi: 10.1016/j.neurobiolaging.2011.11.012. Epub 2011 Dec 10.

PMID:: 22154821; [PubMed - indexed for MEDLINE]

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Select item 216259359.

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

Stromillo ML, Malandrini A, Dotti MT, Battaglini M, Borgogni F, Tessa A, Storti E, Denora PS, Santorelli FM, Gaudiano C, Battisti C, Federico A, De Stefano N.

J Neurol. 2011 Dec;258(12):2240-7. doi: 10.1007/s00415-011-6106-x. Epub 2011 May 29.

PMID:: 21625935; [PubMed - indexed for MEDLINE]

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Select item 2154583810.

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G.

Mol Cell Neurosci. 2011 Jul;47(3):191-202. doi: 10.1016/j.mcn.2011.04.004. Epub 2011 Apr 27.

PMID:: 21545838; [PubMed - indexed for MEDLINE]

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Select item 2144026211.

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E.

J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25.

PMID:: 21440262; [PubMed - indexed for MEDLINE]

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Select item 2138111312.

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Guidubaldi A, Piano C, Santorelli FM, Silvestri G, Petracca M, Tessa A, Bentivoglio AR.

Mov Disord. 2011 Feb 15;26(3):553-6. doi: 10.1002/mds.23552. Epub 2011 Mar 4.

PMID:: 21381113; [PubMed - indexed for MEDLINE]

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Select item 2121487613.

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo MG, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi MT.

Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31.

PMID:: 21214876; [PubMed - indexed for MEDLINE]

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Select item 2103586714.

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

Puech B, Lacour A, Stevanin G, Sautiere BG, Devos D, Depienne C, Denis E, Mundwiller E, Ferriby D, Vermersch P, Defoort-Dhellemmes S.

Ophthalmology. 2011 Mar;118(3):564-73. doi: 10.1016/j.ophtha.2010.07.024. Epub 2010 Oct 29.

PMID:: 21035867; [PubMed - indexed for MEDLINE]

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Select item 2097122015.

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS.

Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12.

PMID:: 20971220; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2069453116.

Rare causes of dystonia parkinsonism.

Schneider SA, Bhatia KP.

Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. Review.

PMID:: 20694531; [PubMed - indexed for MEDLINE]

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Select item 2066932717.

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H.

Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221.

PMID:: 20669327; [PubMed - indexed for MEDLINE]

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Select item 2061386218.

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.

Słabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F.

PLoS Biol. 2010 Jun 29;8(6):e1000408. doi: 10.1371/journal.pbio.1000408.

PMID:: 20613862; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2059321419.

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

Boukhris A, Feki I, Elleuch N, Miladi MI, Boland-Augé A, Truchetto J, Mundwiller E, Jezequel N, Zelenika D, Mhiri C, Brice A, Stevanin G.

Neurogenetics. 2010 Oct;11(4):441-8. doi: 10.1007/s10048-010-0249-2. Epub 2010 Jul 1.

PMID:: 20593214; [PubMed - indexed for MEDLINE]

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Select item 2057198920.

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.

Siri L, Battaglia FM, Tessa A, Rossi A, Rocco MD, Facchinetti S, Mascaretti M, Santorelli FM, Veneselli E, Biancheri R.

Neuropediatrics. 2010 Feb;41(1):35-8. doi: 10.1055/s-0030-1253352. Epub 2010 Jun 22.

PMID:: 20571989; [PubMed - indexed for MEDLINE]

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Supplemental Content

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5 free full-text articles in PubMed Central

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. [Eur J Med Genet. 2011]
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. Eur J Med Genet. 2011 Jan-Feb; 54(1):82-5. Epub 2010 Nov 12.
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. [PLoS Biol. 2010]
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
Słabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, et al. PLoS Biol. 2010 Jun 29; 8(6):e1000408. Epub 2010 Jun 29.
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. [Neurogenetics. 2010]
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S, et al. Neurogenetics. 2010 Oct; 11(4):379-89.

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