218 related articles for article (PubMed ID: 22237560)
1. 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. PubMed ID: 22237560
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 16896309
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18294203
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19054397
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 22114215
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18195149
[TBL] [Abstract][Full Text] [Related]
7. 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; 76(9):811-5. PubMed ID: 21357833
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15929042
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17923349
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22342071
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 22000311
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 18991199
[TBL] [Abstract][Full Text] [Related]
13. 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; 65(9):1493-5. PubMed ID: 16177225
[TBL] [Abstract][Full Text] [Related]
14. Molecular diagnosis of Alpers syndrome.
Nguyen KV; Sharief FS; Chan SS; Copeland WC; Naviaux RK
J Hepatol; 2006 Jul; 45(1):108-16. PubMed ID: 16545482
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 21704543
[TBL] [Abstract][Full Text] [Related]
16. 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; 14(6):322-6. PubMed ID: 8605737
[TBL] [Abstract][Full Text] [Related]
17. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
Naviaux RK; Nguyen KV
Ann Neurol; 2004 May; 55(5):706-12. PubMed ID: 15122711
[TBL] [Abstract][Full Text] [Related]
18. [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. PubMed ID: 10637838
[TBL] [Abstract][Full Text] [Related]
19. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Ashley N; O'Rourke A; Smith C; Adams S; Gowda V; Zeviani M; Brown GK; Fratter C; Poulton J
Hum Mol Genet; 2008 Aug; 17(16):2496-506. PubMed ID: 18487244
[TBL] [Abstract][Full Text] [Related]
20. Polymerase gamma 1 mutations: clinical correlations.
Milone M; Massie R
Neurologist; 2010 Mar; 16(2):84-91. PubMed ID: 20220442
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]