These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 28441825)

  • 1. [Progressive cavitating leukoencephalopathy: four cases and literatures review].
    Ren CH; Fang F; Cheng H; Ding CH; Chen CH; Zhang YJ; Shen DM
    Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):283-287. PubMed ID: 28441825
    [No Abstract]   [Full Text] [Related]  

  • 2. [Clinical and genetic characteristics of children with Leigh syndrome].
    Fang F; Shen Y; Shen DM; Liu ZM; Ding CH; Zhang WC; Sun SZ; Lyu JL; Han TL; Wang XH; Zhang WH; Yang XY; Li JW; Wu HS
    Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):205-209. PubMed ID: 28273704
    [No Abstract]   [Full Text] [Related]  

  • 3. Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood.
    Zhang J; Liu M; Zhang Z; Zhou L; Kong W; Jiang Y; Wang J; Xiao J; Wu Y
    Pediatr Neurol; 2019 May; 94():38-47. PubMed ID: 30770271
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
    Björkman K; Sofou K; Darin N; Holme E; Kollberg G; Asin-Cayuela J; Holmberg Dahle KM; Oldfors A; Moslemi AR; Tulinius M
    Mitochondrion; 2015 Mar; 21():33-40. PubMed ID: 25615419
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [DARS mutations responsible for hypomyelination with brain stem and spinal cord involvement and leg spasticity: report of two cases and review of literature].
    Zhang J; Liu M; Zhou L; Zhang ZB; Wang JM; Jiang YW; Wu Y
    Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):211-215. PubMed ID: 29518832
    [No Abstract]   [Full Text] [Related]  

  • 6. Cystic Leucoencephalopathy in NDUFV1 Mutation.
    Wadhwa Y; Rohilla S; Kaushik JS
    Indian J Pediatr; 2018 Dec; 85(12):1128-1131. PubMed ID: 29948731
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
    Kashani A; Thiffault I; Dilenge ME; Saint-Martin C; Guerrero K; Tran LT; Shoubridge E; van der Knaap MS; Braverman N; Bernard G
    Neurogenetics; 2014 Aug; 15(3):161-4. PubMed ID: 24952175
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole genome and exome sequencing identify
    Liu Z; Zhang L; Ren C; Xu M; Li S; Ban R; Wu Y; Chen L; Sun S; Elstner M; Shimura M; Ogawa-Tominaga M; Murayama K; Shi T; Prokisch H; Fang F
    J Med Genet; 2022 Apr; 59(4):351-357. PubMed ID: 33811136
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
    Jiang HF; Deng J; Fang F; Li H; Wang XH; Dai LF
    Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):893-899. PubMed ID: 33120460
    [No Abstract]   [Full Text] [Related]  

  • 10. Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
    Liu M; Zhang J; Zhang Z; Zhou L; Jiang Y; Wang J; Xiao J; Wu Y
    Clin Genet; 2018 Feb; 93(2):235-241. PubMed ID: 28671726
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.
    Becker N; Sharma A; Gosse M; Kubat B; Conway KS
    Acta Neuropathol Commun; 2022 Sep; 10(1):142. PubMed ID: 36163075
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review].
    Shen MX; Ji XN; Wu F; Gao YY; Feng S; Xie LN; Zheng P; Mao YY; Chen Q
    Zhonghua Er Ke Za Zhi; 2023 Jul; 61(7):642-647. PubMed ID: 37385809
    [No Abstract]   [Full Text] [Related]  

  • 13. MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
    Zafeiriou DI; Rodenburg RJ; Scheffer H; van den Heuvel LP; Pouwels PJ; Ververi A; Athanasiadou-Piperopoulou F; van der Knaap MS
    Neuropediatrics; 2008 Jun; 39(3):172-5. PubMed ID: 18991197
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
    Ferreira M; Torraco A; Rizza T; Fattori F; Meschini MC; Castana C; Go NE; Nargang FE; Duarte M; Piemonte F; Dionisi-Vici C; Videira A; Vilarinho L; Santorelli FM; Carrozzo R; Bertini E
    Neurogenetics; 2011 Feb; 12(1):9-17. PubMed ID: 21203893
    [TBL] [Abstract][Full Text] [Related]  

  • 15. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
    Dallabona C; Abbink TE; Carrozzo R; Torraco A; Legati A; van Berkel CG; Niceta M; Langella T; Verrigni D; Rizza T; Diodato D; Piemonte F; Lamantea E; Fang M; Zhang J; Martinelli D; Bevivino E; Dionisi-Vici C; Vanderver A; Philip SG; Kurian MA; Verma IC; Bijarnia-Mahay S; Jacinto S; Furtado F; Accorsi P; Ardissone A; Moroni I; Ferrero I; Tartaglia M; Goffrini P; Ghezzi D; van der Knaap MS; Bertini E
    Brain; 2016 Mar; 139(Pt 3):782-94. PubMed ID: 26912632
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical features of 54 cases of leukoencephalopathy with vanishing white matter disease in children].
    Zhou L; Zhang HH; Chen N; Zhang ZB; Liu M; Dai LF; Wang JM; Jiang YW; Wu Y
    Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):837-843. PubMed ID: 31665837
    [No Abstract]   [Full Text] [Related]  

  • 17. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
    Zhu H; Bao X; Zhang Y
    Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
    Liu Z; Fang F; Ding C; Wu H; Lyu J; Wu Y
    Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):817-21. PubMed ID: 25582465
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Mitochondrial pyruvate carrier deficiency: 3 cases report and literature review].
    Jiang HF; Fang F; Liu ZM; Xu CL; Zhao PQ; Fu XL
    Zhonghua Er Ke Za Zhi; 2023 Nov; 61(11):995-1000. PubMed ID: 37899339
    [No Abstract]   [Full Text] [Related]  

  • 20. NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
    Mahesan A; Choudhary PK; Kamila G; Rohil A; Meena AK; Kumar A; Jauhari P; Chakrabarty B; Gulati S
    Pediatr Neurol; 2024 Jun; 155():91-103. PubMed ID: 38626668
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.