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Items: 1 to 20 of 21

1.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.

Neurology. 2003 Apr 22;60(8):1354-6.

PMID:
12707443
2.

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

Siciliano G, Tessa A, Petrini S, Mancuso M, Bruno C, Grieco GS, Malandrini A, DeFlorio L, Martini B, Federico A, Nappi G, Santorelli FM, Murri L.

Neuromuscul Disord. 2003 Feb;13(2):162-5.

PMID:
12565915
3.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C.

Neuromuscul Disord. 2003 Feb;13(2):133-42.

PMID:
12565911
4.

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
5.

Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

Lewis S, Hutchison W, Thyagarajan D, Dahl HH.

J Neurol Sci. 2002 Sep 15;201(1-2):39-44.

PMID:
12163192
6.

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP.

Neurology. 2001 Dec 26;57(12):2295-8.

PMID:
11756613
7.

ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.

Hirano M, DiMauro S.

Neurology. 2001 Dec 26;57(12):2163-5. No abstract available.

PMID:
11756592
8.

Diseases caused by nuclear genes affecting mtDNA stability.

Suomalainen A, Kaukonen J.

Am J Med Genet. 2001 Spring;106(1):53-61. Review.

PMID:
11579425
9.

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C.

Nat Genet. 2001 Jul;28(3):223-31. Erratum in: Nat Genet 2001 Sep;29(1):100.

PMID:
11431692
10.

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C.

Nat Genet. 2001 Jul;28(3):211-2.

PMID:
11431686
11.

A helicase is born.

Moraes CT.

Nat Genet. 2001 Jul;28(3):200-1.

PMID:
11431681
12.

Role of adenine nucleotide translocator 1 in mtDNA maintenance.

Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A.

Science. 2000 Aug 4;289(5480):782-5.

13.

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.

Moslemi AR, Melberg A, Holme E, Oldfors A.

Neurology. 1999 Jul 13;53(1):79-84.

PMID:
10408540
14.

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF.

Neurology. 1998 Jan;50(1):99-106.

PMID:
9443465
15.

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.

Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P, Rabl W, Hecker W, Gerbitz KD.

Genomics. 1997 Jan 1;39(1):8-18.

PMID:
9027481
16.

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features.

Chalmers RM, Brockington M, Howard RS, Lecky BR, Morgan-Hughes JA, Harding AE.

J Neurol Sci. 1996 Nov;143(1-2):41-5.

PMID:
8981296
17.
18.

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
19.

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

Fischer JC, Ruitenbeek W, Gabreëls FJ, Janssen AJ, Renier WO, Sengers RC, Stadhouders AM, ter Laak HJ, Trijbels JM, Veerkamp JH.

Eur J Pediatr. 1986 Feb;144(5):441-4.

PMID:
3956532
20.

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S.

Nature. 1989 May 25;339(6222):309-11.

PMID:
2725645

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