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 *

303 related articles for article (PubMed ID: 26912632)

  • 1. 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]  

  • 2. 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]  

  • 3. Acute Devastating Multifocal Cavitating Leukoencephalopathy in a Six-Year-Old Girl due to Missense Mutation in LYRM7 Gene.
    Natarajan S; Ramaswamy G; Kannan L; Gunasekeran V; Kathirvelu G
    Pediatr Neurol; 2021 Apr; 117():44-46. PubMed ID: 33662890
    [No Abstract]   [Full Text] [Related]  

  • 4. LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
    Alfattal R; Alfarhan M; Algaith AM; Albash B; Elshafie RM; Alshammari A; Alahmad A; Dashti F; Alsafi R; Alsharhan H
    Am J Med Genet A; 2023 May; 191(5):1401-1411. PubMed ID: 36757047
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
    Invernizzi F; Tigano M; Dallabona C; Donnini C; Ferrero I; Cremonte M; Ghezzi D; Lamperti C; Zeviani M
    Hum Mutat; 2013 Dec; 34(12):1619-22. PubMed ID: 24014394
    [TBL] [Abstract][Full Text] [Related]  

  • 6. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
    Hempel M; Kremer LS; Tsiakas K; Alhaddad B; Haack TB; Löbel U; Feichtinger RG; Sperl W; Prokisch H; Mayr JA; Santer R
    Mitochondrion; 2017 Nov; 37():55-61. PubMed ID: 28694194
    [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. 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]  

  • 9. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
    Steenweg ME; Ghezzi D; Haack T; Abbink TE; Martinelli D; van Berkel CG; Bley A; Diogo L; Grillo E; Te Water Naudé J; Strom TM; Bertini E; Prokisch H; van der Knaap MS; Zeviani M
    Brain; 2012 May; 135(Pt 5):1387-94. PubMed ID: 22492562
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Novel (ovario) leukodystrophy related to AARS2 mutations.
    Dallabona C; Diodato D; Kevelam SH; Haack TB; Wong LJ; Salomons GS; Baruffini E; Melchionda L; Mariotti C; Strom TM; Meitinger T; Prokisch H; Chapman K; Colley A; Rocha H; Ounap K; Schiffmann R; Salsano E; Savoiardo M; Hamilton EM; Abbink TE; Wolf NI; Ferrero I; Lamperti C; Zeviani M; Vanderver A; Ghezzi D; van der Knaap MS
    Neurology; 2014 Jun; 82(23):2063-71. PubMed ID: 24808023
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
    Moosa AN; Traboulsi EI; Reid J; Prieto L; Moran R; Friedman NR
    J Child Neurol; 2013 Apr; 28(4):531-4. PubMed ID: 22752479
    [TBL] [Abstract][Full Text] [Related]  

  • 14. AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
    Tang Y; Qin Q; Xing Y; Guo D; Di L; Jia J
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00582. PubMed ID: 30706699
    [TBL] [Abstract][Full Text] [Related]  

  • 15. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
    Ardissone A; Tonduti D; Legati A; Lamantea E; Barone R; Dorboz I; Boespflug-Tanguy O; Nebbia G; Maggioni M; Garavaglia B; Moroni I; Farina L; Pichiecchio A; Orcesi S; Chiapparini L; Ghezzi D
    Orphanet J Rare Dis; 2018 Apr; 13(1):45. PubMed ID: 29615062
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
    Kremer LS; L'hermitte-Stead C; Lesimple P; Gilleron M; Filaut S; Jardel C; Haack TB; Strom TM; Meitinger T; Azzouz H; Tebib N; Ogier de Baulny H; Touati G; Prokisch H; Lombès A
    J Hepatol; 2016 Aug; 65(2):377-85. PubMed ID: 27151179
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
    Mordaunt DA; Jolley A; Balasubramaniam S; Thorburn DR; Mountford HS; Compton AG; Nicholl J; Manton N; Clark D; Bratkovic D; Friend K; Yu S
    Am J Med Genet A; 2015 Jun; 167(6):1330-6. PubMed ID: 25899669
    [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. Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction.
    Kang PB; Hunter JV; Melvin JJ; Selak MA; Faerber EN; Kaye EM
    J Child Neurol; 2002 Jun; 17(6):421-8. PubMed ID: 12174962
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
    Kevelam SH; Bugiani M; Salomons GS; Feigenbaum A; Blaser S; Prasad C; Häberle J; Baric I; Bakker IM; Postma NL; Kanhai WA; Wolf NI; Abbink TE; Waisfisz Q; Heutink P; van der Knaap MS
    Brain; 2013 May; 136(Pt 5):1534-43. PubMed ID: 23482991
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.