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 *

176 related articles for article (PubMed ID: 30770271)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. [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]  

  • 5. 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]  

  • 6. Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
    Bindu PS; Sonam K; Chiplunkar S; Govindaraj P; Nagappa M; Vekhande CC; Aravinda HR; Ponmalar JJ; Mahadevan A; Gayathri N; Bharath MS; Sinha S; Taly AB
    Mult Scler Relat Disord; 2018 Feb; 20():84-92. PubMed ID: 29353736
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
    Melchionda L; Haack TB; Hardy S; Abbink TE; Fernandez-Vizarra E; Lamantea E; Marchet S; Morandi L; Moggio M; Carrozzo R; Torraco A; Diodato D; Strom TM; Meitinger T; Tekturk P; Yapici Z; Al-Murshedi F; Stevens R; Rodenburg RJ; Lamperti C; Ardissone A; Moroni I; Uziel G; Prokisch H; Taylor RW; Bertini E; van der Knaap MS; Ghezzi D; Zeviani M
    Am J Hum Genet; 2014 Sep; 95(3):315-25. PubMed ID: 25175347
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
    Parayil Sankaran B; Nagappa M; Chiplunkar S; Kothari S; Govindaraj P; Sinha S; Taly AB
    J Child Neurol; 2020 Jun; 35(7):433-441. PubMed ID: 32180488
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. 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]  

  • 11. Multifocal cavitating leukodystrophy-A distinct image in mitochondrial LYRM7 mutations.
    Cherian A; Divya KP; Jose J; Thomas B
    Mult Scler Relat Disord; 2021 Jan; 47():102615. PubMed ID: 33189022
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy.
    Liu YH; Chou YT; Chang FP; Lee WJ; Guo YC; Chou CT; Huang HC; Mizuguchi T; Chou CC; Yu HY; Yu KW; Wu HM; Tsai PC; Matsumoto N; Lee YC; Liao YC
    Brain; 2022 Sep; 145(9):3010-3021. PubMed ID: 35411397
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.
    Biancheri R; Rossi D; Cassandrini D; Rossi A; Bruno C; Santorelli FM
    AJNR Am J Neuroradiol; 2010 Oct; 31(9):E78-9. PubMed ID: 20581069
    [No Abstract]   [Full Text] [Related]  

  • 14. Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
    Hartman TG; Yosovich K; Michaeli HG; Blumkin L; Ben-Sira L; Lev D; Lerman-Sagie T; Zerem A
    Neurogenetics; 2020 Oct; 21(4):243-249. PubMed ID: 32424628
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
    Hamilton EM; Polder E; Vanderver A; Naidu S; Schiffmann R; Fisher K; Raguž AB; Blumkin L; ; van Berkel CG; Waisfisz Q; Simons C; Taft RJ; Abbink TE; Wolf NI; van der Knaap MS
    Brain; 2014 Jul; 137(Pt 7):1921-30. PubMed ID: 24785942
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.
    Sharma S; Singh P; Fernandez-Vizarra E; Zeviani M; Van der Knaap MS; Saran RK
    J Child Neurol; 2018 May; 33(6):428-431. PubMed ID: 29577824
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
    Dehnavi AZ; Heidari E; Rasulinezhad M; Heidari M; Ashrafi MR; Hosseini MM; Sadeghzadeh F; Fallah MS; Rostampour N; Bahraini A; Garshasbi M; Tavasoli AR
    Hum Genomics; 2021 Jul; 15(1):45. PubMed ID: 34281620
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Teaching NeuroImages: MRI findings in an infant with cavitating leukoencephalopathy.
    Hong A; Assaad P; Karkare S
    Neurology; 2019 Feb; 92(8):e884-e885. PubMed ID: 30777920
    [No Abstract]   [Full Text] [Related]  

  • 19. Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation.
    Rezaei M; Dourandish Z; Kiani Mehr G; Ghorbani A; Fatehi F
    Acta Neurol Belg; 2024 Aug; 124(4):1409-1410. PubMed ID: 38592654
    [No Abstract]   [Full Text] [Related]  

  • 20. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
    Depienne C; Bugiani M; Dupuits C; Galanaud D; Touitou V; Postma N; van Berkel C; Polder E; Tollard E; Darios F; Brice A; de Die-Smulders CE; Vles JS; Vanderver A; Uziel G; Yalcinkaya C; Frints SG; Kalscheuer VM; Klooster J; Kamermans M; Abbink TE; Wolf NI; Sedel F; van der Knaap MS
    Lancet Neurol; 2013 Jul; 12(7):659-68. PubMed ID: 23707145
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.