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Results: 1 to 20 of 205

1.

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]
2.

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]
3.

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]
4.

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]
5.

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]
6.

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]
7.

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]
8.

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

Naviaux RK, Nguyen KV.

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

PMID:
15122711
[PubMed - indexed for MEDLINE]
9.

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]
10.

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H.

Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25.

PMID:
21357833
[PubMed - indexed for MEDLINE]
11.

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
12.

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]
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.

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]
15.

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
[PubMed - indexed for MEDLINE]
16.

Alpers syndrome with mutations in POLG: clinical and investigative features.

Hunter MF, Peters H, Salemi R, Thorburn D, Mackay MT.

Pediatr Neurol. 2011 Nov;45(5):311-8. doi: 10.1016/j.pediatrneurol.2011.07.008.

PMID:
22000311
[PubMed - indexed for MEDLINE]
17.

Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male.

Montine TJ, Powers JM, Vogel FS, Radtke RA.

Clin Neuropathol. 1995 Nov-Dec;14(6):322-6.

PMID:
8605737
[PubMed - indexed for MEDLINE]
18.

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]
19.

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ.

Seizure. 2010 Apr;19(3):140-6. doi: 10.1016/j.seizure.2010.01.002. Epub 2010 Feb 6.

PMID:
20138553
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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]

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