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Results: 1 to 20 of 95

Similar articles for PubMed (Select 24482476)

1.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-11. doi: 10.1126/science.1247363.

2.

Genetics: Exome sequencing sheds light on hereditary spastic paraplegia.

Chase A.

Nat Rev Neurol. 2014 Mar;10(3):124. doi: 10.1038/nrneurol.2014.27. Epub 2014 Feb 25. No abstract available.

PMID:
24566998
3.

Will next-generation sequencing also take us to the next level of understanding disease mechanisms?

Lehn A.

Mov Disord. 2014 Jun;29(7):868. doi: 10.1002/mds.25905. Epub 2014 May 5. No abstract available.

PMID:
24797999
4.

Genetics. A unified process for neurological disease.

Singleton AB.

Science. 2014 Jan 31;343(6170):497-8. doi: 10.1126/science.1250172. No abstract available.

PMID:
24482474
5.

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

Bettencourt C, López-Sendón JL, García-Caldentey J, Rizzu P, Bakker IM, Shomroni O, Quintáns B, Dávila JR, Bevova MR, Sobrido MJ, Heutink P, de Yébenes JG.

Clin Genet. 2014 Feb;85(2):154-8. doi: 10.1111/cge.12133. Epub 2013 Mar 25.

PMID:
23438842
6.

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.

Zhan ZX, Liao XX, Du J, Luo YY, Hu ZT, Wang JL, Yan XX, Zhang JG, Dai MZ, Zhang P, Xia K, Tang BS, Shen L.

Eur J Med Genet. 2013 Jul;56(7):375-8. doi: 10.1016/j.ejmg.2013.04.008. Epub 2013 May 9.

PMID:
23664929
7.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.

Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a. Epub 2008 May 7.

PMID:
18463364
8.

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.

Li YS, Mao CY, Shi CH, Song B, Wu J, Qin J, Ji Y, Niu HX, Luo HY, Shang DD, Sun SL, Xu YM.

J Clin Neurosci. 2015 Jul;22(7):1150-4. doi: 10.1016/j.jocn.2015.01.014. Epub 2015 May 21.

PMID:
26003865
9.

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.

Zhao W, Zhu QY, Zhang JT, Liu H, Wang LJ, Chen ZQ, Guan LP, Huang XS, Yang L, Yu SY.

J Neurol Sci. 2013 Dec 15;335(1-2):112-7. doi: 10.1016/j.jns.2013.09.004. Epub 2013 Sep 10.

PMID:
24090761
10.

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O.

Genome Res. 2011 May;21(5):658-64. doi: 10.1101/gr.117143.110. Epub 2011 Apr 12.

11.

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC).

J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212.

PMID:
23188110
12.

Molecular aspects of hereditary spastic paraplegia.

Noreau A, Dion PA, Rouleau GA.

Exp Cell Res. 2014 Jul 1;325(1):18-26. doi: 10.1016/j.yexcr.2014.02.021. Epub 2014 Mar 11. Review.

PMID:
24631291
13.

REEPing the benefits of an animal model of hereditary spastic paraplegia.

Deutch AY, Hedera P, Colbran RJ.

J Clin Invest. 2013 Oct;123(10):4134-6. doi: 10.1172/JCI72324. Epub 2013 Sep 24.

14.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium.

Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

15.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P.

Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3.

PMID:
22552817
16.

A diagnostic gene chip for hereditary spastic paraplegias.

Luo Y, Du J, Zhan Z, Chen C, Wang J, Hu Y, Hu Z, Xia K, Tang B, Shen L.

Brain Res Bull. 2013 Aug;97:112-8. doi: 10.1016/j.brainresbull.2013.07.002. Epub 2013 Jul 10.

PMID:
23850684
17.

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y.

Am J Hum Genet. 2008 Dec;83(6):752-9. doi: 10.1016/j.ajhg.2008.11.003.

18.

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.

Intern Med. 2013;52(14):1629-33. Epub 2013 Jul 15.

19.

Zebrafish models of human motor neuron diseases: advantages and limitations.

Babin PJ, Goizet C, Raldúa D.

Prog Neurobiol. 2014 Jul;118:36-58. doi: 10.1016/j.pneurobio.2014.03.001. Epub 2014 Apr 3. Review.

20.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C.

Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.

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