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Items: 11

1.

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L.

Hum Mol Genet. 2005 Oct 15;14(20):2981-90. Epub 2005 Aug 31.

PMID:
16135556
2.

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ.

Am J Med Genet A. 2009 May;149A(5):861-7. doi: 10.1002/ajmg.a.32731. Review.

PMID:
19353676
3.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
4.

Other autosomal recessive and childhood ataxias.

De Michele G, Filla A.

Handb Clin Neurol. 2012;103:343-57. doi: 10.1016/B978-0-444-51892-7.00021-8. Review.

PMID:
21827899
5.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
6.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
7.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
8.

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A.

Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Review.

PMID:
20880070
9.

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.

Kiferle L, Orsucci D, Mancuso M, Lo Gerfo A, Petrozzi L, Siciliano G, Ceravolo R, Bonuccelli U.

Neurosci Lett. 2013 Nov 27;556:1-4. doi: 10.1016/j.neulet.2013.09.034. Epub 2013 Sep 26. Review.

PMID:
24076137
10.

Autosomal recessive spinocerebellar ataxias in Japan.

Tanaka F, Doi H, Kunii M.

Rinsho Shinkeigaku. 2016 Jun 22;56(6):395-9. doi: 10.5692/clinicalneurol.cn-000879. Epub 2016 May 14. Review. Japanese.

PMID:
27181749
11.

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ.

J Neurol Sci. 2013 Mar 15;326(1-2):24-8. doi: 10.1016/j.jns.2013.01.004. Epub 2013 Jan 21. Review.

PMID:
23343605

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