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Results: 1 to 20 of 137

Similar articles for PubMed (Select 18322265)

1.

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH Jr.

Neurology. 2008 Apr 1;70(14):1179-85. doi: 10.1212/01.wnl.0000289760.85237.4e. Epub 2008 Mar 5.

PMID:
18322265
2.

VAPB: new genetic clues to the pathogenesis of ALS.

Hirano M.

Neurology. 2008 Apr 1;70(14):1161-2. doi: 10.1212/01.wnl.0000307756.15383.fc. No abstract available.

PMID:
18378881
3.

Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).

Kanekura K, Nishimoto I, Aiso S, Matsuoka M.

J Biol Chem. 2006 Oct 6;281(40):30223-33. Epub 2006 Aug 4.

4.

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.

Ingre C, Pinto S, Birve A, Press R, Danielsson O, de Carvalho M, Guđmundsson G, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):620-7. doi: 10.3109/21678421.2013.822515. Epub 2013 Aug 23.

PMID:
23971766
5.

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, René F, Drapeau P, Rouleau GA, Dupuis L.

Hum Mol Genet. 2013 Jun 15;22(12):2350-60. doi: 10.1093/hmg/ddt080. Epub 2013 Feb 26.

6.

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.

Aliaga L, Lai C, Yu J, Chub N, Shim H, Sun L, Xie C, Yang WJ, Lin X, O'Donovan MJ, Cai H.

Hum Mol Genet. 2013 Nov 1;22(21):4293-305. doi: 10.1093/hmg/ddt279. Epub 2013 Jun 13. Erratum in: Hum Mol Genet. 2014 Jun 1;23(11):3069.

7.

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.

van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Dec;33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9.

8.

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.

Fernández-Santiago R, Hoenig S, Lichtner P, Sperfeld AD, Sharma M, Berg D, Weichenrieder O, Illig T, Eger K, Meyer T, Anneser J, Münch C, Zierz S, Gasser T, Ludolph A.

J Neurol. 2009 Aug;256(8):1337-42. doi: 10.1007/s00415-009-5124-4. Epub 2009 Apr 12.

9.

ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.

Suzuki H, Kanekura K, Levine TP, Kohno K, Olkkonen VM, Aiso S, Matsuoka M.

J Neurochem. 2009 Feb;108(4):973-985. doi: 10.1111/j.0022-3042.2008.05857.x.

PMID:
19183264
10.

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.

Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele A, Labella V, Simone IL, Majorana G, Monsurrò MR, Valentino P, Muglia M, Quattrone A.

J Negat Results Biomed. 2006 May 29;5:7.

11.

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ, Shaw PJ.

Arch Neurol. 2010 Apr;67(4):455-61. doi: 10.1001/archneurol.2010.52.

PMID:
20385912
12.

Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.

Teuling E, Ahmed S, Haasdijk E, Demmers J, Steinmetz MO, Akhmanova A, Jaarsma D, Hoogenraad CC.

J Neurosci. 2007 Sep 5;27(36):9801-15.

13.

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M.

Am J Hum Genet. 2004 Nov;75(5):822-31. Epub 2004 Sep 15.

14.

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.

Paubel A, Violette J, Amy M, Praline J, Meininger V, Camu W, Corcia P, Andres CR, Vourc'h P; French Amyotrophic Lateral Sclerosis (ALS) Study Group.

Arch Neurol. 2008 Oct;65(10):1333-6. doi: 10.1001/archneur.65.10.1333.

PMID:
18852347
15.

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP.

Eur J Neurol. 2009 Jun;16(6):727-32. doi: 10.1111/j.1468-1331.2009.02574.x. Epub 2009 Feb 19.

PMID:
19236453
16.

Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.

Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS.

J Biol Chem. 2010 Dec 17;285(51):40266-81. doi: 10.1074/jbc.M110.161398. Epub 2010 Oct 12.

17.

Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity.

Suzuki H, Matsuoka M.

J Neurochem. 2011 Dec;119(5):1099-107. doi: 10.1111/j.1471-4159.2011.07491.x. Epub 2011 Oct 20.

PMID:
21933185
18.

Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis.

Whittle AJ, Ross OA, Naini A, Gordon P, Mistumoto H, Dächsel JC, Stone JT, Wszolek ZK, Farrer MJ, Przedborski S.

J Neural Transm. 2007 Mar;114(3):327-9. Epub 2006 Jul 25.

PMID:
16865326
19.

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.

Mitne-Neto M, Machado-Costa M, Marchetto MC, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HC, Oliveira AS, Lazar M, Muotri AR, Zatz M.

Hum Mol Genet. 2011 Sep 15;20(18):3642-52. doi: 10.1093/hmg/ddr284. Epub 2011 Jun 17.

20.

A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.

Tran D, Chalhoub A, Schooley A, Zhang W, Ngsee JK.

J Cell Sci. 2012 Jun 15;125(Pt 12):2831-6. doi: 10.1242/jcs.102111. Epub 2012 Mar 27.

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