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 *

169 related articles for article (PubMed ID: 30258207)

  • 1. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
    Hamanaka K; Miyatake S; Zerem A; Lev D; Blumkin L; Yokochi K; Fujita A; Imagawa E; Iwama K; Nakashima M; Mitsuhashi S; Mizuguchi T; Takata A; Miyake N; Saitsu H; van der Knaap MS; Lerman-Sagie T; Matsumoto N
    J Hum Genet; 2018 Dec; 63(12):1223-1229. PubMed ID: 30258207
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
    Lossos A; Stümpfig C; Stevanin G; Gaussen M; Zimmerman BE; Mundwiller E; Asulin M; Chamma L; Sheffer R; Misk A; Dotan S; Gomori JM; Ponger P; Brice A; Lerer I; Meiner V; Lill R
    Neurology; 2015 Feb; 84(7):659-67. PubMed ID: 25609768
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
    Torraco A; Ardissone A; Invernizzi F; Rizza T; Fiermonte G; Niceta M; Zanetti N; Martinelli D; Vozza A; Verrigni D; Di Nottia M; Lamantea E; Diodato D; Tartaglia M; Dionisi-Vici C; Moroni I; Farina L; Bertini E; Ghezzi D; Carrozzo R
    J Neurol; 2017 Jan; 264(1):102-111. PubMed ID: 27785568
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
    Khalifa M; Naffaa L
    Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
    Debray FG; Stümpfig C; Vanlander AV; Dideberg V; Josse C; Caberg JH; Boemer F; Bours V; Stevens R; Seneca S; Smet J; Lill R; van Coster R
    J Inherit Metab Dis; 2015 Nov; 38(6):1147-53. PubMed ID: 25971455
    [TBL] [Abstract][Full Text] [Related]  

  • 7. POLR3A variants in striatal involvement without diffuse hypomyelination.
    Hiraide T; Kubota K; Kono Y; Watanabe S; Matsubayashi T; Nakashima M; Kaname T; Fukao T; Shimozawa N; Ogata T; Saitsu H
    Brain Dev; 2020 Apr; 42(4):363-368. PubMed ID: 31932101
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.
    Xu H; Ma K; Gao Y; Song Q; Chen C; Xu X; Peng J; Sun Y
    Mol Genet Genomic Med; 2024 Jun; 12(6):e2485. PubMed ID: 38923322
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expert opinion and caution are imperative for interpretation of next generation sequencing data.
    Thiffault I; Bernard G
    Eur J Med Genet; 2016 Oct; 59(10):519-21. PubMed ID: 27535217
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
    Wu S; Bai Z; Dong X; Yang D; Chen H; Hua J; Zhou L; Lv H
    BMC Pediatr; 2019 Aug; 19(1):289. PubMed ID: 31438894
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.
    Kawaguchi M; Sassa T; Kidokoro H; Nakata T; Kato K; Muramatsu H; Okuno Y; Yamamoto H; Kaname T; Kihara A; Natsume J
    Brain Dev; 2020 Feb; 42(2):217-221. PubMed ID: 31837835
    [TBL] [Abstract][Full Text] [Related]  

  • 12. RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
    Mendes MI; Green LMC; Bertini E; Tonduti D; Aiello C; Smith D; Salsano E; Beerepoot S; Hertecant J; von Spiczak S; Livingston JH; Emrick L; Fraser J; Russell L; Bernard G; Magri S; Di Bella D; Taroni F; Koenig MK; Moroni I; Cappuccio G; Brunetti-Pierri N; Rhee J; Mendelsohn BA; Helbig I; Helbig K; Muhle H; Ismayl O; Vanderver AL; Salomons GS; van der Knaap MS; Wolf NI
    Ann Clin Transl Neurol; 2020 Jan; 7(1):83-93. PubMed ID: 31814314
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
    Ajit Bolar N; Vanlander AV; Wilbrecht C; Van der Aa N; Smet J; De Paepe B; Vandeweyer G; Kooy F; Eyskens F; De Latter E; Delanghe G; Govaert P; Leroy JG; Loeys B; Lill R; Van Laer L; Van Coster R
    Hum Mol Genet; 2013 Jul; 22(13):2590-602. PubMed ID: 23462291
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
    Helman G; Zerem A; Almad A; Hacker JL; Woidill S; Sase S; LeFevre AN; Ekstein J; Johansson MM; Stutterd CA; Taft RJ; Simons C; Grinspan JB; Pizzino A; Schmidt JL; Harding B; Hirsch Y; Viaene AN; Fattal-Valevski A; Vanderver A
    Pediatr Neurol; 2021 Aug; 121():11-19. PubMed ID: 34111619
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
    Song C; Peng L; Wang S; Liu Y
    J Hum Genet; 2019 Oct; 64(10):979-983. PubMed ID: 31388113
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
    Charif M; Nasca A; Thompson K; Gerber S; Makowski C; Mazaheri N; Bris C; Goudenège D; Legati A; Maroofian R; Shariati G; Lamantea E; Hopton S; Ardissone A; Moroni I; Giannotta M; Siegel C; Strom TM; Prokisch H; Vignal-Clermont C; Derrien S; Zanlonghi X; Kaplan J; Hamel CP; Leruez S; Procaccio V; Bonneau D; Reynier P; White FE; Hardy SA; Barbosa IA; Simpson MA; Vara R; Perdomo Trujillo Y; Galehdari H; Deshpande C; Haack TB; Rozet JM; Taylor RW; Ghezzi D; Amati-Bonneau P; Lenaers G
    JAMA Neurol; 2018 Jan; 75(1):105-113. PubMed ID: 29181510
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
    Labauge P; Horzinski L; Ayrignac X; Blanc P; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Sèze J; Fogli A; Boespflug-Tanguy O
    Brain; 2009 Aug; 132(Pt 8):2161-9. PubMed ID: 19625339
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
    Wongkittichote P; Pantano C; Bogush E; Alves CAP; Hong X; He M; Demczko MM; Ganetzky RD; Goldstein A
    Mol Genet Metab; 2023; 140(1-2):107710. PubMed ID: 37903659
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
    Bai H; Li D; Zheng Y; Jiang X
    Medicine (Baltimore); 2022 Aug; 101(34):e30350. PubMed ID: 36042647
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expanding the clinical and genetic spectra of NKX6-2-related disorder.
    Baldi C; Bertoli-Avella AM; Al-Sannaa N; Alfadhel M; Al-Thihli K; Alameer S; Elmonairy AA; Al Shamsi AM; Abdelrahman HA; Al-Gazali L; Shawli A; Al-Hakami F; Yavuz H; Kandaswamy KK; Rolfs A; Brandau O; Bauer P
    Clin Genet; 2018 May; 93(5):1087-1092. PubMed ID: 29388673
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.