Holt IJ - Search Results

1

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

Marchington DR, Poulton J, Sellar A, Holt IJ. Marchington DR, et al. Among authors: holt ij. Hum Mol Genet. 1996 Apr;5(4):473-9. doi: 10.1093/hmg/5.4.473. Hum Mol Genet. 1996. PMID: 8845839

2

163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands.

Poulton J, Holt IJ. Poulton J, et al. Among authors: holt ij. Neuromuscul Disord. 2009 Jun;19(6):439-43. doi: 10.1016/j.nmd.2009.04.009. Epub 2009 May 21. Neuromuscul Disord. 2009. PMID: 19464176 No abstract available.

3

Transmission of mitochondrial DNA diseases and ways to prevent them.

Poulton J, Chiaratti MR, Meirelles FV, Kennedy S, Wells D, Holt IJ. Poulton J, et al. Among authors: holt ij. PLoS Genet. 2010 Aug 12;6(8):e1001066. doi: 10.1371/journal.pgen.1001066. PLoS Genet. 2010. PMID: 20711358 Free PMC article. Review.

4

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.

Kajander OA, Rovio AT, Majamaa K, Poulton J, Spelbrink JN, Holt IJ, Karhunen PJ, Jacobs HT. Kajander OA, et al. Among authors: holt ij. Hum Mol Genet. 2000 Nov 22;9(19):2821-35. doi: 10.1093/hmg/9.19.2821. Hum Mol Genet. 2000. PMID: 11092758

5

Mitochondrial DNA: does more lead to less?

Poulton J, Holt IJ. Poulton J, et al. Among authors: holt ij. Nat Genet. 1994 Dec;8(4):313-5. doi: 10.1038/ng1294-313. Nat Genet. 1994. PMID: 7894476 No abstract available.

6

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A. Tyynismaa H, et al. Among authors: holt ij. Hum Mol Genet. 2004 Dec 15;13(24):3219-27. doi: 10.1093/hmg/ddh342. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509589

7

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A. Dalla Rosa I, et al. Among authors: holt ij. PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan. PLoS Genet. 2016. PMID: 26760297 Free PMC article.

8

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: holt ij. Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508084 Free PMC article.

9

Mitochondrial DNA polymorphism in mitochondrial myopathy.

Holt IJ, Harding AE, Morgan-Hughes JA. Holt IJ, et al. Hum Genet. 1988 May;79(1):53-7. doi: 10.1007/BF00291710. Hum Genet. 1988. PMID: 2896621

10

Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA.

Vergani L, Rossi R, Brierley CH, Hanna M, Holt IJ. Vergani L, et al. Among authors: holt ij. Hum Mol Genet. 1999 Sep;8(9):1751-5. doi: 10.1093/hmg/8.9.1751. Hum Mol Genet. 1999. PMID: 10441339

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