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Items: 1 to 20 of 121

1.

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
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.

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.

4.

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
5.

Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations.

Visser NA, Braun KP, Leijten FS, van Nieuwenhuizen O, Wokke JH, van den Bergh WM.

J Neurol. 2011 Feb;258(2):218-22. doi: 10.1007/s00415-010-5721-2. Epub 2010 Aug 29.

6.

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
7.

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

Naviaux RK, Nguyen KV.

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

PMID:
15122711
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.

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
10.

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
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.

Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus.

Dhamija R, Moseley BD, Wirrell EC.

Neurology. 2011 Feb 1;76(5):e22-5. doi: 10.1212/WNL.0b013e31820a0d39. No abstract available.

PMID:
21282586
13.

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
14.

Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

Spiegler J, Stefanova I, Hellenbroich Y, Sperner J.

Neuropediatrics. 2011 Oct;42(5):194-6. doi: 10.1055/s-0031-1287812. Epub 2011 Oct 17.

PMID:
22006280
15.

Brain MR imaging findings in two patients with Alpers' syndrome.

Smith JK, Mah JK, Castillo M.

Clin Imaging. 1996 Oct-Dec;20(4):235-7.

PMID:
8959359
16.

Respiratory chain deficiency in Alpers syndrome.

Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chrétien D, Rötig A, Rustin P, Munnich A, de Lonlay P.

Neuropediatrics. 2001 Jun;32(3):150-2.

PMID:
11521212
17.

Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.

Mohamed K, Fathallah W, Ahmed E.

J Inherit Metab Dis. 2011 Apr;34(2):439-41. doi: 10.1007/s10545-011-9278-8. Epub 2011 Feb 9.

PMID:
21305355
18.

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
19.

Clinical quiz. Alpers' disease.

Fitzgerald JF, Troncone R, Del Rosario MA.

J Pediatr Gastroenterol Nutr. 1999 May;28(5):501,509. No abstract available.

PMID:
10328125
20.

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

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