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Items: 7

1.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.

Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H.

Neurology. 2012 Jul 10;79(2):127-31. doi: 10.1212/WNL.0b013e31825f048e. Epub 2012 Jun 6.

2.

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Shakkottai VG, Fogel BL.

Neurol Clin. 2013 Nov;31(4):987-1007. doi: 10.1016/j.ncl.2013.04.006. Epub 2013 Jul 30. Review.

3.

[The genetics of spinocerebellar ataxias].

Jacobi H, Minnerop M, Klockgether T.

Nervenarzt. 2013 Feb;84(2):137-42. doi: 10.1007/s00115-012-3637-z. Review. German.

PMID:
23338152
4.

Recent advances in the genetics of cerebellar ataxias.

Sailer A, Houlden H.

Curr Neurol Neurosci Rep. 2012 Jun;12(3):227-36. doi: 10.1007/s11910-012-0267-6. Review.

PMID:
22527681
5.

Spinocerebellar ataxia 15: A phenotypic review and expansion.

Tipton PW, Guthrie K, Strongosky A, Reimer R, Wszolek ZK.

Neurol Neurochir Pol. 2017 Jan - Feb;51(1):86-91. doi: 10.1016/j.pjnns.2016.10.006. Epub 2016 Nov 10. Review.

PMID:
27908616
6.

A Clinician's perspective on clinical exome sequencing.

O'Donnell-Luria AH, Miller DT.

Hum Genet. 2016 Jun;135(6):643-54. doi: 10.1007/s00439-016-1662-x. Epub 2016 Apr 28. Review.

PMID:
27126233
7.

Clinical exome sequencing in neurologic disease.

Fogel BL, Satya-Murti S, Cohen BH.

Neurol Clin Pract. 2016 Apr;6(2):164-176. Review. Erratum in: Neurol Clin Pract. 2016 Aug;6(4):368.

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