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Results: 1 to 20 of 109

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
[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.

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.

PMID:
20803213
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.

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
[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.

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
[PubMed - indexed for MEDLINE]
10.

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]
11.

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]
12.

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
[PubMed - indexed for MEDLINE]
13.

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]
14.

Palliative functional hemispherectomy for treatment of refractory status epilepticus associated with Alpers' disease.

Lupashko S, Malik S, Donahue D, Hernandez A, Perry MS.

Childs Nerv Syst. 2011 Aug;27(8):1321-3. doi: 10.1007/s00381-011-1495-9. Epub 2011 Jun 1.

PMID:
21630043
[PubMed - indexed for MEDLINE]
15.

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
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S.

Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332.

PMID:
20142534
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults.

Harding BN, Alsanjari N, Smith SJ, Wiles CM, Thrush D, Miller DH, Scaravilli F, Harding AE.

J Neurol Neurosurg Psychiatry. 1995 Mar;58(3):320-5. Review.

PMID:
7897414
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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