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Items: 19

1.

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.

Ann Neurol. 2002 Aug;52(2):211-9.

PMID:
12210792
2.

Consequences of mutations in human DNA polymerase gamma.

Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.

Gene. 2005 Jul 18;354:125-31. Review.

PMID:
15913923
3.

Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.

Copeland WC, Ponamarev MV, Nguyen D, Kunkel TA, Longley MJ.

Acta Biochim Pol. 2003;50(1):155-67. Review.

4.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
5.

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases.

Kawai H, Akaike M, Yokoi K, Nishida Y, Kunishige M, Mine H, Saito S.

Muscle Nerve. 1995 Jul;18(7):753-60. Review.

PMID:
7783765
7.

[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].

Mukai M, Sugaya K, Matsubara S, Cai H, Yabe I, Sasaki H, Nakano I.

Rinsho Shinkeigaku. 2014;54(5):417-22. Review. Japanese.

PMID:
24943079
8.

Polymerase gamma 1 mutations: clinical correlations.

Milone M, Massie R.

Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.

PMID:
20220442
9.

Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia.

Rowland LP, Hirano M, DiMauro S, Schon EA.

Neuromuscul Disord. 1997 Oct;7 Suppl 1:S15-21. Review.

PMID:
9392010
10.

Neurological disorders due to mutations of the mitochondrial genome.

Zeviani M, DiDonato S.

Neuromuscul Disord. 1991;1(3):165-72. Review.

PMID:
1822790
11.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
12.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
13.

[Autosomal dominant chronic progressive external ophthalmoplegia].

Higuchi I, Nakagawa M.

Nihon Rinsho. 2002 Apr;60 Suppl 4:450-4. Review. Japanese. No abstract available.

PMID:
12013910
14.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA.

Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Review.

PMID:
25660390
15.

[ARCO (autosomal recessive cardiomyopathy and ophthalmoplegia)].

Goto Y.

Ryoikibetsu Shokogun Shirizu. 2001;(36):170-1. Review. Japanese. No abstract available.

PMID:
11596359
16.

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.

Delgado-Alvarado M, de la Riva P, Jiménez-Urbieta H, Gago B, Gabilondo A, Bornstein B, Rodríguez-Oroz MC.

J Neurol Sci. 2015 Mar 15;350(1-2):93-7. doi: 10.1016/j.jns.2015.02.011. Epub 2015 Feb 11. Review.

PMID:
25724872
17.

Progressive scoliosis associated with lateral gaze palsy.

Hamanishi C, Tanaka S, Kasahara Y, Shikata J.

Spine (Phila Pa 1976). 1993 Dec;18(16):2545-8. Review.

PMID:
8303464
18.

A metabolic basis for dominance and recessivity.

Keightley PD.

Genetics. 1996 Jun;143(2):621-5. Review. No abstract available.

19.

[Ophthalmoplegia].

Numabe H.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):378-9. Review. Japanese. No abstract available.

PMID:
11528793

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