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Items: 1 to 20 of 198

1.

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.

Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M, Bindoff LA.

Brain. 2010 May;133(Pt 5):1428-37. doi: 10.1093/brain/awq067. Epub 2010 Apr 16.

PMID:
20400524
2.

Recessive twinkle mutations cause severe epileptic encephalopathy.

Lönnqvist T, Paetau A, Valanne L, Pihko H.

Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20.

PMID:
19304794
3.

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M.

Brain. 2005 Apr;128(Pt 4):723-31. Epub 2005 Feb 2.

PMID:
15689359
4.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PMID:
16621917
5.

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

PMID:
16896309
6.

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.

Brain. 2006 Jul;129(Pt 7):1685-92. Epub 2006 Apr 25.

PMID:
16638794
7.

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.

Tzoulis C, Bindoff LA.

Brain. 2012 Dec;135(Pt 12):3627-34. doi: 10.1093/brain/aws223. Epub 2012 Oct 12.

PMID:
23065482
8.

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy.

Tzoulis C, Henriksen E, Miletic H, Bindoff LA.

Mitochondrion. 2017 Jan;32:10-15. doi: 10.1016/j.mito.2016.11.004. Epub 2016 Nov 10.

PMID:
27838477
9.

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.

10.

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
11.

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.

Neurology. 2005 Apr 12;64(7):1204-8.

PMID:
15824347
12.

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.

Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5.

PMID:
18775955
13.

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.

Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM.

Brain. 2012 Jun;135(Pt 6):1736-50. doi: 10.1093/brain/aws110. Epub 2012 May 9.

14.

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.

Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17.

PMID:
22342071
15.

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K.

Epilepsia. 2008 Jun;49(6):1038-45. doi: 10.1111/j.1528-1167.2008.01544.x. Epub 2008 Feb 20.

16.

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.

Martikainen MH, Hinttala R, Majamaa K.

BMJ Case Rep. 2010 Sep 29;2010. pii: bcr0120102604. doi: 10.1136/bcr.01.2010.2604.

17.

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

Habek M, Barun B, Adamec I, Mitrović Z, Ozretić D, Brinar VV.

Neurologist. 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6.

PMID:
22931735
18.

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.

Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS.

J Neuropathol Exp Neurol. 2008 Sep;67(9):857-66. doi: 10.1097/NEN.0b013e3181839b2d.

PMID:
18716558
19.

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Tzoulis C, Tran GT, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA.

Ann Neurol. 2014 Jul;76(1):66-81. doi: 10.1002/ana.24185. Epub 2014 Jun 14.

20.

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T.

Brain. 2007 Nov;130(Pt 11):3032-40. Epub 2007 Oct 5.

PMID:
17921179

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