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Items: 1 to 20 of 188

1.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, Munhoz RP, Rogaeva EA, St George-Hyslop PH, Bernardi G, Kawarai T.

Brain. 2010 Feb;133(Pt 2):591-8. doi: 10.1093/brain/awp325. Epub 2010 Jan 28.

2.

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.

Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.

3.

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.

Ma J, Xiong L, Chang Y, Jing X, Huang W, Hu B, Shi X, Xu W, Wang Y, Li X.

Parkinsonism Relat Disord. 2014 Feb;20(2):256-9. doi: 10.1016/j.parkreldis.2013.11.004. Epub 2013 Nov 14.

PMID:
24315199
4.

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.

Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A.

Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12.

5.

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J.

Ann Neurol. 2007 Dec;62(6):656-65.

PMID:
18067136
6.

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
7.

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
8.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.

Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S, Castellotti B, Mazzini L, SorarĂ¹ G, Cereda C, D'Alfonso S, Gellera C, Comi GP, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43. doi: 10.1136/jnnp.2011.242313. Epub 2011 May 25.

PMID:
21613650
9.

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau GA.

Ann Neurol. 2001 Feb;49(2):267-71.

PMID:
11220750
10.

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H.

Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20.

PMID:
18717728
11.

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA.

Arch Neurol. 2003 Dec;60(12):1768-71.

PMID:
14676054
12.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH.

Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25.

13.

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP.

Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. Epub 2014 Feb 21.

14.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S.

Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.

PMID:
24315819
15.

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.

Wu J, Shen E, Shi D, Sun Z, Cai T.

Genet Med. 2012 Sep;14(9):823-6. doi: 10.1038/gim.2012.50. Epub 2012 May 17.

PMID:
22595939
16.

[What is the role of the genetic survey in amyotrophic lateral sclerosis?].

Camu W.

Rev Neurol (Paris). 2006 Jun;162 Spec No 2:4S91-4S95. French.

PMID:
17128094
17.

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M.

Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x.

PMID:
19087158
18.

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):572-7. doi: 10.1136/jnnp.2009.192310.

PMID:
20460594
19.

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.

Nat Genet. 2007 Mar;39(3):366-72. Epub 2007 Feb 18.

PMID:
17322883
20.

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
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