Taanman JW - Search Results

1

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.

Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T. Wolf NI, et al. Among authors: taanman jw. Epilepsia. 2009 Jun;50(6):1596-607. doi: 10.1111/j.1528-1167.2008.01877.x. Epub 2008 Nov 19. Epilepsia. 2009. PMID: 19054397 Free article.

2

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH. Taanman JW, et al. Hum Mutat. 2009 Feb;30(2):248-54. doi: 10.1002/humu.20852. Hum Mutat. 2009. PMID: 18828154

3

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S. Hikmat O, et al. Among authors: taanman jw. Genet Med. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28471437 Free article.

4

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. Rajakulendran S, et al. Among authors: taanman jw. PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016. PLoS One. 2016. PMID: 26735972 Free PMC article.

5

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S. Pagnamenta AT, et al. Among authors: taanman jw. Mol Genet Metab. 2006 Nov;89(3):214-21. doi: 10.1016/j.ymgme.2006.05.003. Epub 2006 Jun 23. Mol Genet Metab. 2006. PMID: 16798039

6

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S. Pagnamenta AT, et al. Among authors: taanman jw. Hum Reprod. 2006 Oct;21(10):2467-73. doi: 10.1093/humrep/del076. Epub 2006 Apr 4. Hum Reprod. 2006. PMID: 16595552

7

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. Fassone E, et al. Among authors: taanman jw. Hum Mol Genet. 2010 Dec 15;19(24):4837-47. doi: 10.1093/hmg/ddq414. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858599 Free PMC article.

8

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S. Pitceathly RD, et al. Among authors: taanman jw. J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378381

9

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. Fassone E, et al. Among authors: taanman jw. J Med Genet. 2011 Oct;48(10):691-7. doi: 10.1136/jmedgenet-2011-100340. J Med Genet. 2011. PMID: 21931170

10

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Among authors: taanman jw. JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242. JAMA Neurol. 2013. PMID: 24100867

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