PubMed for id: 91574

Year	Number of Results
1993	1
2000	1
2002	1
2003	1
2004	1
2007	1
2010	2
2011	3
2012	3
2013	3
2014	6
2015	3
2016	2
2017	1
2019	3
2020	3
2021	2
2022	1
2024	0

1

Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria?

Ayyub SA, Gao F, Lightowlers RN, Chrzanowska-Lightowlers ZM. Ayyub SA, et al. J Cell Sci. 2020 Jan 2;133(1):jcs231811. doi: 10.1242/jcs.231811. J Cell Sci. 2020. PMID: 31896602 Review.

2

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].

Lin SZ, Sun XT, Ma HW. Lin SZ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2019 Nov;21(11):1094-1098. doi: 10.7499/j.issn.1008-8830.2019.11.008. Zhongguo Dang Dai Er Ke Za Zhi. 2019. PMID: 31753091 Free PMC article. Chinese.

3

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM. Wesolowska M, et al. J Neuromuscul Dis. 2015 Oct 7;2(4):409-419. doi: 10.3233/JND-150121. J Neuromuscul Dis. 2015. PMID: 27858754 Free PMC article.

4

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Pyle A, et al. J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003. J Neuromuscul Dis. 2014. PMID: 26380172 Free PMC article.

5

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N. Imagawa E, et al. J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):212-6. doi: 10.1136/jnnp-2014-310084. Epub 2015 May 20. J Neurol Neurosurg Psychiatry. 2016. PMID: 25995486

6

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.

7

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.

Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. Heidary G, et al. J Neuroophthalmol. 2014 Mar;34(1):39-43. doi: 10.1097/WNO.0000000000000076. J Neuroophthalmol. 2014. PMID: 24284555 Review.

8

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.

9

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R. Buchert R, et al. Eur J Med Genet. 2013 Nov;56(11):599-602. doi: 10.1016/j.ejmg.2013.09.010. Epub 2013 Sep 28. Eur J Med Genet. 2013. PMID: 24080142

10

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). Shimazaki H, et al. J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212. J Med Genet. 2012. PMID: 23188110

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