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Items: 1 to 20 of 127

1.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ.

Arch Neurol. 2012 Apr;69(4):490-9. doi: 10.1001/archneurol.2011.2167.

2.

In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathy.

Müller-Höcker J, Seibel P, Schneiderbanger K, Zietz C, Obermaier-Kusser B, Gerbitz KD, Kadenbach B.

Hum Pathol. 1992 Dec;23(12):1431-7.

PMID:
1334946
3.

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres.

Oldfors A, Larsson NG, Holme E, Tulinius M, Kadenbach B, Droste M.

J Neurol Sci. 1992 Jul;110(1-2):169-77.

PMID:
1324295
4.

"Bartter-like" phenotype in Kearns-Sayre syndrome.

Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E, Rizzoni G.

Pediatr Nephrol. 2006 Mar;21(3):355-60. Epub 2005 Dec 29.

PMID:
16382326
5.

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.

Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M.

Pediatr Res. 1990 Aug;28(2):131-6.

PMID:
2395603
6.

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.

Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA, Bonilla E.

Nat Genet. 1992 Aug;1(5):359-67.

PMID:
1284549
7.

Neuropathology in Kearns-Sayre syndrome.

Oldfors A, Fyhr IM, Holme E, Larsson NG, Tulinius M.

Acta Neuropathol. 1990;80(5):541-6.

PMID:
2251912
8.

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7952-6.

9.

Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.

Reichmann H, Degoul F, Gold R, Meurers B, Ketelsen UP, Hartmann J, Marsac C, Lestienne P.

Eur Neurol. 1991;31(2):108-13.

PMID:
1646110
10.

Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.

Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E.

Ann Neurol. 1999 Mar;45(3):377-83.

PMID:
10072053
12.

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.

Moraes CT, Schon EA, DiMauro S, Miranda AF.

Biochem Biophys Res Commun. 1989 Apr 28;160(2):765-71.

PMID:
2541710
13.

[Deletions of mitochondrial DNA in Kearns-Sayre syndrome].

Soga F, Ueno S, Yorifuji S.

Nihon Rinsho. 1993 Sep;51(9):2386-90. Review. Japanese.

PMID:
8411717
14.

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart.

Fromenty B, Carrozzo R, Shanske S, Schon EA.

Am J Med Genet. 1997 Sep 5;71(4):443-52.

PMID:
9286453
15.

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.

Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, Eymard B, Fardeau M, Ponsot G, Paturneau-Jouas M, et al.

J Neurol Sci. 1991 Feb;101(2):168-77.

PMID:
1851820
16.

A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion.

Vázquez-Acevedo M, Vázquez-Memije ME, Mutchinick OM, Morales JJ, García-Ramos G, González-Halphen D.

Neurol Sci. 2002 Dec;23(5):247-50.

PMID:
12522683
17.

Progression in a case of Kearns-Sayre syndrome.

Ishikawa Y, Goto Y, Ishikawa Y, Minami R.

J Child Neurol. 2000 Nov;15(11):750-5.

PMID:
11108509
18.

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

Poulton J, Morten KJ, Weber K, Brown GK, Bindoff L.

Hum Mol Genet. 1994 Jun;3(6):947-51.

PMID:
7951243
19.

[Mitochondrial DNA deletions in Kearns-Sayre syndrome].

Carod-Artal FJ, Lopez Gallardo E, Solano A, Dahmani Y, Herrero MD, Montoya J.

Neurologia. 2006 Sep;21(7):357-64. Spanish.

PMID:
16977556
20.

Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy.

Zanssen S, Molnar M, Buse G, Schröder JM.

Clin Neuropathol. 1998 Nov-Dec;17(6):291-6.

PMID:
9832255

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