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 *

174 related articles for article (PubMed ID: 32382377)

  • 1. Progressive cavitating leukoencephalopathy associated with a homozygous
    Shinagawa A; Hugdal S; Babu J; Rangaswamy R
    Radiol Case Rep; 2020 Jul; 15(7):908-913. PubMed ID: 32382377
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Progressive cavitating leukoencephalopathy: a novel childhood disease.
    Naidu S; Bibat G; Lin D; Burger P; Barker P; Rosemberg S; Braverman N; Arroyo H; Dowling M; Hamosh A; Kimonis V; Blank C; Fiumara A; Facchini S; Singhal B; Moser H; Kelley R; DiMauro S
    Ann Neurol; 2005 Dec; 58(6):929-38. PubMed ID: 16315274
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    de Souza PVS; Bortholin T; Burlin S; Naylor FGM; Pinto WBVR; Oliveira ASB
    J Pediatr Genet; 2018 Mar; 7(1):40-42. PubMed ID: 29441221
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. 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]  

  • 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. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome
    Chapleau A; Boucher RM; Pastinen T; Thiffault I; Gould PV; Bernard G
    Front Cell Neurosci; 2023; 17():1216487. PubMed ID: 37601282
    [TBL] [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. Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.
    Kurtz J; Fernandes JA; Mansukhani M; Copeland WC; Naini AB
    Case Rep Genet; 2021; 2021():9969071. PubMed ID: 34777884
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.
    Ishiyama A; Muramatsu K; Uchino S; Sakai C; Matsushima Y; Makioka N; Ogata T; Suzuki E; Komaki H; Sasaki M; Mimaki M; Goto YI; Nishino I
    Clin Genet; 2018 May; 93(5):1103-1106. PubMed ID: 29344937
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
    Friederich MW; Perez FA; Knight KM; Van Hove RA; Yang SP; Saneto RP; Van Hove JLK
    Mol Genet Metab; 2020 Mar; 129(3):236-242. PubMed ID: 31917109
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Neeve VC; Samuels DC; Bindoff LA; van den Bosch B; Van Goethem G; Smeets H; Lombès A; Jardel C; Hirano M; Dimauro S; De Vries M; Smeitink J; Smits BW; de Coo IF; Saft C; Klopstock T; Keiling BC; Czermin B; Abicht A; Lochmüller H; Hudson G; Gorman GG; Turnbull DM; Taylor RW; Holinski-Feder E; Chinnery PF; Horvath R
    Brain; 2012 Dec; 135(Pt 12):3614-26. PubMed ID: 23250882
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
    Felhi R; Sfaihi L; Charif M; Desquiret-Dumas V; Bris C; Goudenège D; Ammar-Keskes L; Hachicha M; Bonneau D; Procaccio V; Reynier P; Amati-Bonneau P; Lenaers G; Fakhfakh F
    Clin Chim Acta; 2019 Jan; 488():104-110. PubMed ID: 30395865
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two cases with progressive cystic leukoencephalopathy.
    Yapici Z; Benbir G; Saltik S; He L; Brown GK; Taylor RW; Dincer A; Naidu S; Yalcinkaya C
    Neuropediatrics; 2009 Feb; 40(1):47-51. PubMed ID: 19639529
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    Yasuda K; Murase N; Yoshinaga K; Ohtani R; Goto YI; Takahashi R; Nakamura M
    J Clin Neurosci; 2019 Mar; 61():302-304. PubMed ID: 30385167
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
    Perrier S; Gauquelin L; Tétreault M; Tran LT; Webb N; Srour M; Mitchell JJ; Brunel-Guitton C; Majewski J; Long V; Keller S; Gambello MJ; Simons C; ; Vanderver A; Bernard G
    Clin Genet; 2018 Feb; 93(2):396-400. PubMed ID: 28857146
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.