240 related articles for article (PubMed ID: 25808502)
1. Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M; Orsucci D; Angelini C; Bertini E; Carelli V; Comi GP; Donati MA; Federico A; Minetti C; Moggio M; Mongini T; Santorelli FM; Servidei S; Tonin P; Toscano A; Bruno C; Bello L; Caldarazzo Ienco E; Cardaioli E; Catteruccia M; Da Pozzo P; Filosto M; Lamperti C; Moroni I; Musumeci O; Pegoraro E; Ronchi D; Sauchelli D; Scarpelli M; Sciacco M; Valentino ML; Vercelli L; Zeviani M; Siciliano G
J Neurol; 2015 May; 262(5):1301-9. PubMed ID: 25808502
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
Gustafson MA; McCormick EM; Perera L; Longley MJ; Bai R; Kong J; Dulik M; Shen L; Goldstein AC; McCormack SE; Laskin BL; Leroy BP; Ortiz-Gonzalez XR; Ellington MG; Copeland WC; Falk MJ
PLoS One; 2019; 14(9):e0221829. PubMed ID: 31479473
[TBL] [Abstract][Full Text] [Related]
3. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Broomfield A; Sweeney MG; Woodward CE; Fratter C; Morris AM; Leonard JV; Abulhoul L; Grunewald S; Clayton PT; Hanna MG; Poulton J; Rahman S
J Inherit Metab Dis; 2015 May; 38(3):445-57. PubMed ID: 25352051
[TBL] [Abstract][Full Text] [Related]
4. Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
Sabella-Jiménez V; Otero-Herrera C; Silvera-Redondo C; Garavito-Galofre P
Mol Genet Genomic Med; 2020 Nov; 8(11):e1509. PubMed ID: 33030289
[TBL] [Abstract][Full Text] [Related]
5. The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.
Semeraro M; Boenzi S; Carrozzo R; Diodato D; Martinelli D; Olivieri G; Antonetti G; Sacchetti E; Catesini G; Rizzo C; Dionisi-Vici C
Clin Chim Acta; 2018 Jun; 481():156-160. PubMed ID: 29534959
[TBL] [Abstract][Full Text] [Related]
6. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.
Sadikovic B; Wang J; El-Hattab AW; Landsverk M; Douglas G; Brundage EK; Craigen WJ; Schmitt ES; Wong LJ
PLoS One; 2010 Dec; 5(12):e15687. PubMed ID: 21187929
[TBL] [Abstract][Full Text] [Related]
7. Mitochondrial DNA with a large-scale deletion causes two distinct mitochondrial disease phenotypes in mice.
Katada S; Mito T; Ogasawara E; Hayashi J; Nakada K
G3 (Bethesda); 2013 Sep; 3(9):1545-52. PubMed ID: 23853091
[TBL] [Abstract][Full Text] [Related]
8. The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
Zhao Y; Hou Y; Zhao X; Liufu T; Yu M; Zhang W; Xie Z; Zhang VW; Yuan Y; Wang Z
Mol Genet Genomic Med; 2024 Jan; 12(1):e2328. PubMed ID: 38018320
[TBL] [Abstract][Full Text] [Related]
9. Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Wild KT; Goldstein AC; Muraresku C; Ganetzky RD
Am J Med Genet A; 2020 Feb; 182(2):365-373. PubMed ID: 31825167
[TBL] [Abstract][Full Text] [Related]
10. Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.
Finsterer J; Scorza FA; Scorza CA
Med Arch; 2018 Jun; 72(3):234-236. PubMed ID: 30061775
[No Abstract] [Full Text] [Related]
11. Pearson syndrome in a Diamond-Blackfan anemia cohort.
Alter BP
Blood; 2014 Jul; 124(3):312-3. PubMed ID: 25035146
[TBL] [Abstract][Full Text] [Related]
12. Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Grigalionienė K; Burnytė B; Balkelienė D; Ambrozaitytė L; Utkus A
Mol Genet Genomic Med; 2023 Jan; 11(1):e2059. PubMed ID: 36181358
[TBL] [Abstract][Full Text] [Related]
13. [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].
Wang ZX; Yuan Y; Gao F; Qi Y; Shen DG; Chen QT
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug; 20(4):273-8. PubMed ID: 12903032
[TBL] [Abstract][Full Text] [Related]
14. [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].
Barrientos A; Casademont J; Grau JM; Cardellach F; Montoya J; Estivill X; Urbano-Márquez A; Nunes V
Med Clin (Barc); 1995 Jul; 105(5):180-4. PubMed ID: 7630231
[TBL] [Abstract][Full Text] [Related]
15. Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.
Guo L; Wang X; Ji H
DNA Cell Biol; 2020 Aug; 39(8):1449-1457. PubMed ID: 32609007
[TBL] [Abstract][Full Text] [Related]
16. Ophthalmoplegia in Mitochondrial Disease.
Lee SJ; Na JH; Han J; Lee YM
Yonsei Med J; 2018 Dec; 59(10):1190-1196. PubMed ID: 30450853
[TBL] [Abstract][Full Text] [Related]
17. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B; Kaliszewska M; Rusecka J; Kosińska J; Bartnik E; Tońska K; Kamińska AM; Kostera-Pruszczyk A
Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33396418
[TBL] [Abstract][Full Text] [Related]
18. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Rodríguez-López C; García-Cárdaba LM; Blázquez A; Serrano-Lorenzo P; Gutiérrez-Gutiérrez G; San Millán-Tejado B; Muelas N; Hernández-Laín A; Vílchez JJ; Gutiérrez-Rivas E; Arenas J; Martín MA; Domínguez-González C
J Med Genet; 2020 Sep; 57(9):643-646. PubMed ID: 32161153
[TBL] [Abstract][Full Text] [Related]
19. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
Gagne KE; Ghazvinian R; Yuan D; Zon RL; Storm K; Mazur-Popinska M; Andolina L; Bubala H; Golebiowska S; Higman MA; Kalwak K; Kurre P; Matysiak M; Niewiadomska E; Pels S; Petruzzi MJ; Pobudejska-Pieniazek A; Szczepanski T; Fleming MD; Gazda HT; Agarwal S
Blood; 2014 Jul; 124(3):437-40. PubMed ID: 24735966
[TBL] [Abstract][Full Text] [Related]
20. Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.
Zoccolella S; Torraco A; Amati A; Lamberti P; Serlenga L; Papa S; Petruzzella V
Funct Neurol; 2006; 21(1):39-41. PubMed ID: 16735000
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]