173 related articles for article (PubMed ID: 35286480)
1. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Domínguez-González C; Fernández-Torrón R; Moore U; de Fuenmayor-Fernández de la Hoz CP; Vélez-Gómez B; Cabezas JA; Alonso-Pérez J; González-Mera L; Olivé M; García-García J; Moris G; León Hernández JC; Muelas N; Servian-Morilla E; Martin MA; Díaz-Manera J; Paradas C
J Neurol; 2022 Jul; 269(7):3550-3562. PubMed ID: 35286480
[TBL] [Abstract][Full Text] [Related]
2. Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C; Hernández-Laín A; Rivas E; Hernández-Voth A; Sayas Catalán J; Fernández-Torrón R; Fuiza-Luces C; García García J; Morís G; Olivé M; Miralles F; Díaz-Manera J; Caballero C; Méndez-Ferrer B; Martí R; García Arumi E; Badosa MC; Esteban J; Jimenez-Mallebrera C; Encinar AB; Arenas J; Hirano M; Martin MÁ; Paradas C
Orphanet J Rare Dis; 2019 May; 14(1):100. PubMed ID: 31060578
[TBL] [Abstract][Full Text] [Related]
3. Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Berardo A; Domínguez-González C; Engelstad K; Hirano M
J Neuromuscul Dis; 2022; 9(2):225-235. PubMed ID: 35094997
[TBL] [Abstract][Full Text] [Related]
4. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.
Béhin A; Jardel C; Claeys KG; Fagart J; Louha M; Romero NB; Laforêt P; Eymard B; Lombès A
Neurology; 2012 Feb; 78(9):644-8. PubMed ID: 22345218
[TBL] [Abstract][Full Text] [Related]
5. Retrospective natural history of thymidine kinase 2 deficiency.
Garone C; Taylor RW; Nascimento A; Poulton J; Fratter C; Domínguez-González C; Evans JC; Loos M; Isohanni P; Suomalainen A; Ram D; Hughes MI; McFarland R; Barca E; Lopez Gomez C; Jayawant S; Thomas ND; Manzur AY; Kleinsteuber K; Martin MA; Kerr T; Gorman GS; Sommerville EW; Chinnery PF; Hofer M; Karch C; Ralph J; Cámara Y; Madruga-Garrido M; Domínguez-Carral J; Ortez C; Emperador S; Montoya J; Chakrapani A; Kriger JF; Schoenaker R; Levin B; Thompson JLP; Long Y; Rahman S; Donati MA; DiMauro S; Hirano M
J Med Genet; 2018 Aug; 55(8):515-521. PubMed ID: 29602790
[TBL] [Abstract][Full Text] [Related]
6. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Wang L; Limongelli A; Vila MR; Carrara F; Zeviani M; Eriksson S
Mol Genet Metab; 2005 Jan; 84(1):75-82. PubMed ID: 15639197
[TBL] [Abstract][Full Text] [Related]
7. Muscle structural changes in mitochondrial myopathy relate to genotype.
Olsen DB; Langkilde AR; Ørngreen MC; Rostrup E; Schwartz M; Vissing J
J Neurol; 2003 Nov; 250(11):1328-34. PubMed ID: 14648149
[TBL] [Abstract][Full Text] [Related]
8. Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination.
Mensch A; Kraya T; Koester F; Müller T; Stoevesandt D; Zierz S
J Neurol; 2020 Aug; 267(8):2408-2420. PubMed ID: 32361838
[TBL] [Abstract][Full Text] [Related]
9. Primary mitochondrial myopathies in childhood.
Olimpio C; Tiet MY; Horvath R
Neuromuscul Disord; 2021 Oct; 31(10):978-987. PubMed ID: 34736635
[TBL] [Abstract][Full Text] [Related]
10. Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression.
Manini A; Meneri M; Rodolico C; Corti S; Toscano A; Comi GP; Musumeci O; Ronchi D
Front Neurol; 2022; 13():857279. PubMed ID: 35280287
[TBL] [Abstract][Full Text] [Related]
11. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.
Vilà MR; Villarroya J; García-Arumí E; Castellote A; Meseguer A; Hirano M; Roig M
J Neurol Sci; 2008 Apr; 267(1-2):137-41. PubMed ID: 18021809
[TBL] [Abstract][Full Text] [Related]
12. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.
Zhang S; Li FY; Bass HN; Pursley A; Schmitt ES; Brown BL; Brundage EK; Mardach R; Wong LJ
Mol Genet Metab; 2010 Jan; 99(1):53-7. PubMed ID: 19815440
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
[TBL] [Abstract][Full Text] [Related]
14. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.
Leshinsky-Silver E; Michelson M; Cohen S; Ginsberg M; Sadeh M; Barash V; Lerman-Sagie T; Lev D
Eur J Paediatr Neurol; 2008 Jul; 12(4):309-13. PubMed ID: 17951082
[TBL] [Abstract][Full Text] [Related]
15. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.
Leung DG; Cohen JS; Michelle EH; Bai R; Mammen AL; Christopher-Stine L
J Clin Neuromuscul Dis; 2018 Mar; 19(3):117-123. PubMed ID: 29465611
[TBL] [Abstract][Full Text] [Related]
17. Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.
Roos S; Lindgren U; Ehrstedt C; Moslemi AR; Oldfors A
Neuromuscul Disord; 2014 Aug; 24(8):713-20. PubMed ID: 24953930
[TBL] [Abstract][Full Text] [Related]
18. Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody.
Minamiyama S; Ueda S; Nakashima R; Yamakado H; Sakato Y; Yamashita H; Sawamoto N; Fujimoto R; Nishino I; Urushitani M; Mimori T; Takahashi R
Muscle Nerve; 2020 Jan; 61(1):81-87. PubMed ID: 31588577
[TBL] [Abstract][Full Text] [Related]
19. The expanding phenotype of mitochondrial myopathy.
DiMauro S; Gurgel-Giannetti J
Curr Opin Neurol; 2005 Oct; 18(5):538-42. PubMed ID: 16155436
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
Durham SE; Bonilla E; Samuels DC; DiMauro S; Chinnery PF
Neurology; 2005 Aug; 65(3):453-5. PubMed ID: 16087914
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
