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Items: 1 to 20 of 168

1.

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
2.

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K.

Brain Dev. 2015 Aug;37(7):719-24. doi: 10.1016/j.braindev.2014.10.013. Epub 2014 Nov 18.

PMID:
25466440
3.

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
4.

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH.

Ann Neurol. 1999 Jan;45(1):54-8.

PMID:
9894877
5.

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

Naviaux RK, Nguyen KV.

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

PMID:
15122711
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
7.

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.

8.

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
9.

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
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.

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
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.

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
14.

[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
15.

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
16.

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.

17.

[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex].

Siemes H, Goebel HH, Sengers RC, Ruitenbeek W, Trijbels JM.

Monatsschr Kinderheilkd. 1987 Dec;135(12):821-6. German.

PMID:
3125426
18.

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.

19.

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
20.

Mitochondrial DNA depletion in Alpers syndrome.

Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J.

Neuropediatrics. 2004 Aug;35(4):217-23.

PMID:
15328560

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