Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 122

1.

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

Chan SS, Longley MJ, Naviaux RK, Copeland WC.

DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. Epub 2005 Sep 21.

PMID:
16181814
2.

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

Mousson de Camaret B, Chassagne M, Mayençon M, Padet S, Crehalet H, Clerc-Renaud P, Rouvet I, Zabot MT, Rivier F, Sarda P, des Portes V, Bozon D.

Mitochondrion. 2011 Jan;11(1):223-7. doi: 10.1016/j.mito.2010.07.011. Epub 2010 Aug 4.

PMID:
20691285
3.

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC.

Mitochondrion. 2009 Sep;9(5):340-5. doi: 10.1016/j.mito.2009.05.002. Epub 2009 Jun 6.

4.

Molecular diagnosis of Alpers syndrome.

Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK.

J Hepatol. 2006 Jul;45(1):108-16. Epub 2006 Feb 20.

PMID:
16545482
5.

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM.

BMC Neurol. 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4.

6.

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Naviaux RK, Nguyen KV.

Ann Neurol. 2004 May;55(5):706-12.

PMID:
15122711
7.

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ.

Mitochondrion. 2011 Jan;11(1):104-7. doi: 10.1016/j.mito.2010.07.012. Epub 2010 Aug 12.

PMID:
20708716
8.

POLG mutations in Alpers syndrome.

Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK.

Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21.

PMID:
16177225
9.

POLG mutations and Alpers syndrome.

Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S.

Ann Neurol. 2005 Jun;57(6):921-3.

PMID:
15929042
10.

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Chan SS, Copeland WC.

Biochim Biophys Acta. 2009 May;1787(5):312-9. doi: 10.1016/j.bbabio.2008.10.007. Epub 2008 Oct 29. Review.

11.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.

Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.

12.

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S.

Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332.

13.

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J.

Hum Mol Genet. 2008 Aug 15;17(16):2496-506. doi: 10.1093/hmg/ddn150. Epub 2008 May 16. Erratum in: Hum Mol Genet. 2009 Dec 15;18(24):4905-6.

14.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

15.

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.

PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.

16.

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC.

J Biol Chem. 2009 Jul 17;284(29):19501-10. doi: 10.1074/jbc.M109.011940. Epub 2009 May 28.

17.

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.

Brunetti-Pierri N, Selby K, O'Sullivan M, Hendson G, Truong C, Waters PJ, Wong LJ.

Neuropediatrics. 2008 Jun;39(3):179-83. doi: 10.1055/s-0028-1093334. Epub 2008 Nov 7.

PMID:
18991199
18.
19.

Consequences of mutations in human DNA polymerase gamma.

Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.

Gene. 2005 Jul 18;354:125-31. Review.

PMID:
15913923
20.

Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons.

Lamba JK, Adachi M, Sun D, Tammur J, Schuetz EG, Allikmets R, Schuetz JD.

Hum Mol Genet. 2003 Jan 15;12(2):99-109.

Items per page

Supplemental Content

Write to the Help Desk