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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Among authors: holt i. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872
Mitochondrial DNA analysis in Parkinson's disease.
Schapira AH, Holt IJ, Sweeney M, Harding AE, Jenner P, Marsden CD. Schapira AH, et al. Among authors: holt ij. Mov Disord. 1990;5(4):294-7. doi: 10.1002/mds.870050406. Mov Disord. 1990. PMID: 1979656
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.
Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.
Akman G, Desai R, Bailey LJ, Yasukawa T, Dalla Rosa I, Durigon R, Holmes JB, Moss CF, Mennuni M, Houlden H, Crouch RJ, Hanna MG, Pitceathly RD, Spinazzola A, Holt IJ. Akman G, et al. Among authors: holt ij. Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4276-85. doi: 10.1073/pnas.1600537113. Epub 2016 Jul 8. Proc Natl Acad Sci U S A. 2016. PMID: 27402764 Free PMC article.
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.
194 results