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Items: 1 to 20 of 77

1.

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

Roshal D, Glosser D, Zangaladze A.

Epilepsy Behav. 2011 Jun;21(2):206-10. doi: 10.1016/j.yebeh.2011.03.003. Epub 2011 Apr 22.

PMID:
21515089
2.

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA.

Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30.

PMID:
18238797
3.

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

Paus S, Zsurka G, Baron M, Deschauer M, Bamberg C, Klockgether T, Kunz WS, Kornblum C.

Mov Disord. 2008 Jul 15;23(9):1286-8. doi: 10.1002/mds.22135.

PMID:
18546343
4.

Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.

Lee YC, Lu YC, Chang MH, Soong BW.

J Neurol Sci. 2007 Mar 15;254(1-2):65-8. Epub 2007 Feb 14.

PMID:
17300808
5.

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.

6.

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.

Brain. 2006 Jul;129(Pt 7):1685-92. Epub 2006 Apr 25.

PMID:
16638794
7.

Do carriers of POLG mutation W748S have disease manifestations?

Rantamäki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B.

Clin Genet. 2007 Dec;72(6):532-7. Epub 2007 Sep 25.

PMID:
17894835
8.
9.

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
10.

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

Deprez L, Peeters K, Van Paesschen W, Claeys KG, Claes LR, Suls A, Audenaert D, Van Dyck T, Goossens D, Del-Favero J, De Jonghe P.

Neurology. 2007 Jun 5;68(23):1995-2002. Epub 2007 Apr 25.

PMID:
17460155
11.

Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia.

Montassir H, Maegaki Y, Ohno K, Ogura K.

Epilepsy Res. 2010 Feb;88(2-3):93-9. doi: 10.1016/j.eplepsyres.2009.10.001. Epub 2009 Nov 14.

PMID:
19914803
12.

POLG1 variations presenting as multiple sclerosis.

Echaniz-Laguna A, Chassagne M, de Sèze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B.

Arch Neurol. 2010 Sep;67(9):1140-3. doi: 10.1001/archneurol.2010.219.

PMID:
20837861
13.

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.

14.

[Magnetic resonance and clinical and electroencephalographical localization in focal epilepsy].

Consalvo DE, Kochen SS, Silva WH, Oddo SA, Giagante B, Salgado PA, Schuster GS, Sica RE.

Medicina (B Aires). 2001;61(1):53-6. Spanish.

PMID:
11265624
15.

Epileptic kinetopsia: ictal illusory motion perception.

Laff R, Mesad S, Devinsky O.

Neurology. 2003 Nov 11;61(9):1262-4.

PMID:
14610133
16.

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

Remes AM, Hinttala R, Kärppä M, Soini H, Takalo R, Uusimaa J, Majamaa K.

Parkinsonism Relat Disord. 2008 Dec;14(8):652-4. doi: 10.1016/j.parkreldis.2008.01.009. Epub 2008 Mar 5.

PMID:
18321754
17.

Screening for POLG W748S and A467T mutations in ataxia patients from Spain.

Pelayo-Negro AL, Sánchez-Quintana C, Rodríguez-Oroz MC, Volpini V, Zeviani M, Tola-Arribas MA, Berciano J, Infante J.

Mov Disord. 2012 Sep 1;27(10):1326. doi: 10.1002/mds.25085. Epub 2012 Jun 18. No abstract available.

PMID:
22711370
18.

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
19.

[Idiopathic partial epilepsy with occipital paroxysms].

Martinović Z.

Srp Arh Celok Lek. 1999 Jul-Aug;127(7-8):241-8. Serbian.

PMID:
10624397
20.

Symptomatic parieto-occipital epilepsy as sequela of perinatal asphyxia.

Oguni H, Sugama M, Osawa M.

Pediatr Neurol. 2008 May;38(5):345-52. doi: 10.1016/j.pediatrneurol.2007.10.016.

PMID:
18410851

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