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Results: 1 to 20 of 185

1.

Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

Boes M, Bauer J, Urbach H, Elger CE, Frank S, Baron M, Zsurka G, Kunz WS, Kornblum C.

Seizure. 2009 Apr;18(3):232-4. doi: 10.1016/j.seizure.2008.08.003. Epub 2008 Sep 9.

PMID:
18783964
[PubMed - indexed for MEDLINE]
Free Article
2.

Juvenile Alpers disease.

Wiltshire E, Davidzon G, DiMauro S, Akman HO, Sadleir L, Haas L, Zuccollo J, McEwen A, Thorburn DR.

Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14.

PMID:
18195149
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

Epilepsia. 2009 Jun;50(6):1596-607. doi: 10.1111/j.1528-1167.2008.01877.x. Epub 2008 Nov 19.

PMID:
19054397
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

Simonati A, Filosto M, Savio C, Tomelleri G, Tonin P, Dalla Bernardina B, Rizzuto N.

Acta Neuropathol. 2003 Jul;106(1):57-65. Epub 2003 Apr 30.

PMID:
12721699
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
18294203
[PubMed - indexed for MEDLINE]
10.

Phenotypic and genotypic variability in Alpers syndrome.

Sofou K, Moslemi AR, Kollberg G, Bjarnadóttir I, Oldfors A, Nennesmo I, Holme E, Tulinius M, Darin N.

Eur J Paediatr Neurol. 2012 Jul;16(4):379-89. doi: 10.1016/j.ejpn.2011.12.006. Epub 2012 Jan 10.

PMID:
22237560
[PubMed - indexed for MEDLINE]
11.

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

de Vries MC, Rodenburg RJ, Morava E, Lammens M, van den Heuvel LP, Korenke GC, Smeitink JA.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S299-302. doi: 10.1007/s10545-008-0871-4. Epub 2008 May 20.

PMID:
18500570
[PubMed - indexed for MEDLINE]
12.

Alpers syndrome with prominent white matter changes.

Bao X, Wu Y, Wong LJ, Zhang Y, Xiong H, Chou PC, Truong CK, Jiang Y, Qin J, Yuan Y, Lin Q, Wu X.

Brain Dev. 2008 Apr;30(4):295-300. Epub 2007 Oct 17.

PMID:
17923349
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
Free Article
15.

Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.

McCoy B, Owens C, Howley R, Ryan S, King M, Farrell MA, Lynch BJ.

Eur J Paediatr Neurol. 2011 Nov;15(6):558-62. doi: 10.1016/j.ejpn.2011.05.012. Epub 2011 Jun 24.

PMID:
21704543
[PubMed - indexed for MEDLINE]
16.

Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease.

Cardenas JF, Amato RS.

Semin Pediatr Neurol. 2010 Mar;17(1):62-4. doi: 10.1016/j.spen.2010.02.012.

PMID:
20434700
[PubMed - indexed for MEDLINE]
17.

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA.

Eur J Pediatr. 2007 Mar;166(3):229-34. Epub 2006 Sep 7.

PMID:
16957900
[PubMed - indexed for MEDLINE]
18.

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

Hasselmann O, Blau N, Ramaekers VT, Quadros EV, Sequeira JM, Weissert M.

Mol Genet Metab. 2010 Jan;99(1):58-61. doi: 10.1016/j.ymgme.2009.08.005. Epub .

PMID:
19766516
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
Free Article
20.

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
[PubMed - indexed for MEDLINE]
Free Article

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