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Items: 11


Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators.

Liu N, Lee CH, Swigut T, Grow E, Gu B, Bassik MC, Wysocka J.

Nature. 2018 Jan 11;553(7687):228-232. doi: 10.1038/nature25179. Epub 2017 Dec 6.


The diagnostic value of saccades in movement disorder patients: a practical guide and review.

Termsarasab P, Thammongkolchai T, Rucker JC, Frucht SJ.

J Clin Mov Disord. 2015 Oct 15;2:14. doi: 10.1186/s40734-015-0025-4. eCollection 2015. Review.


MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus.

Frismand S, Salem H, Panouilleres M, Pélisson D, Jacobs S, Vighetto A, Cotton F, Tilikete C.

Neuroimage Clin. 2013 Apr 10;2:542-8. doi: 10.1016/j.nicl.2013.03.018. eCollection 2013.


Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium, Valentine R, Packham E, Evans J, Seller A, Ragoussis J.

Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.


Cognitive functions in ataxia with oculomotor apraxia type 2.

Klivényi P, Nemeth D, Sefcsik T, Janacsek K, Hoffmann I, Haden GP, Londe Z, Vecsei L.

Front Neurol. 2012 Aug 10;3:125. eCollection 2012.


A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

Nicolaou P, Georghiou A, Votsi C, Middleton LT, Zamba-Papanicolaou E, Christodoulou K.

BMC Med Genet. 2008 Apr 14;9:28. doi: 10.1186/1471-2350-9-28.


The involvement of DNA-damage and -repair defects in neurological dysfunction.

Kulkarni A, Wilson DM 3rd.

Am J Hum Genet. 2008 Mar;82(3):539-66. doi: 10.1016/j.ajhg.2008.01.009. Review.


Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.

Suraweera A, Becherel OJ, Chen P, Rundle N, Woods R, Nakamura J, Gatei M, Criscuolo C, Filla A, Chessa L, Fusser M, Epe B, Gueven N, Lavin MF.

J Cell Biol. 2007 Jun 18;177(6):969-79. Epub 2007 Jun 11.


XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damage.

Lévy N, Martz A, Bresson A, Spenlehauer C, de Murcia G, Ménissier-de Murcia J.

Nucleic Acids Res. 2006 Jan 5;34(1):32-41. Print 2006.


Molecular pathology of ataxia telangiectasia.

Taylor AM, Byrd PJ.

J Clin Pathol. 2005 Oct;58(10):1009-15. Review.


A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.

Luo H, Chan DW, Yang T, Rodriguez M, Chen BP, Leng M, Mu JJ, Chen D, Songyang Z, Wang Y, Qin J.

Mol Cell Biol. 2004 Oct;24(19):8356-65.

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