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Items: 1 to 20 of 97

1.

Alpers syndrome: the natural history of a case highlighting neuroimaging, neuropathology, and fat metabolism.

Khan A, Trevenen C, Wei XC, Sarnat HB, Payne E, Kirton A.

J Child Neurol. 2012 May;27(5):636-40. doi: 10.1177/0883073811423973. Epub 2011 Nov 22.

PMID:
22114215
2.

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
3.

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
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
5.

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
6.

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.

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
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.

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.

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.

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
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
13.

MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome.

Flemming K, Ulmer S, Duisberg B, Hahn A, Jansen O.

AJNR Am J Neuroradiol. 2002 Sep;23(8):1421-3.

14.

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
15.

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
16.

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
17.

A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.

Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, Hassinen IE, Majamaa K.

Pediatrics. 2003 Mar;111(3):e262-8.

PMID:
12612282
18.

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
19.

[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases].

Castro-Gago M, González-Conde V, Fernández-Seara MJ, Rodrigo-Sáez E, Fernández-Cebrián S, Alonso-Martín A, Campos Y, Arenas J, Eirís-Puñal J.

Rev Neurol. 1999 Nov 16-30;29(10):912-7. Spanish.

PMID:
10637838
20.

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

Naviaux RK, Nguyen KV.

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

PMID:
15122711

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