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 *

124 related articles for article (PubMed ID: 31106229)

  • 1. Multiple Mitochondrial Dysfunctions Syndrome 4 Due to
    Alfadhel M
    Child Neurol Open; 2019; 6():2329048X19847377. PubMed ID: 31106229
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
    Alfadhel M; Nashabat M; Alrifai MT; Alshaalan H; Al Mutairi F; Al-Shahrani SA; Plecko B; Almass R; Alsagob M; Almutairi FB; Al-Rumayyan A; Al-Twaijri W; Al-Owain M; Taylor RW; Kaya N
    Eur J Paediatr Neurol; 2018 Jan; 22(1):46-55. PubMed ID: 29122497
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
    Toldo I; Nosadini M; Boscardin C; Talenti G; Manara R; Lamantea E; Legati A; Ghezzi D; Perilongo G; Sartori S
    Metab Brain Dis; 2018 Jun; 33(3):805-812. PubMed ID: 29359243
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4.
    Eidi M; Garshasbi M
    BMC Neurol; 2019 Jul; 19(1):153. PubMed ID: 31279336
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review.
    Alfallaj R; Alfadhel M
    Child Neurol Open; 2019; 6():2329048X19831486. PubMed ID: 30815509
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
    Al-Hassnan ZN; Al-Dosary M; Alfadhel M; Faqeih EA; Alsagob M; Kenana R; Almass R; Al-Harazi OS; Al-Hindi H; Malibari OI; Almutari FB; Tulbah S; Alhadeq F; Al-Sheddi T; Alamro R; AlAsmari A; Almuntashri M; Alshaalan H; Al-Mohanna FA; Colak D; Kaya N
    J Med Genet; 2015 Mar; 52(3):186-94. PubMed ID: 25539947
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Formation of [4Fe-4S] clusters in the mitochondrial iron-sulfur cluster assembly machinery.
    Brancaccio D; Gallo A; Mikolajczyk M; Zovo K; Palumaa P; Novellino E; Piccioli M; Ciofi-Baffoni S; Banci L
    J Am Chem Soc; 2014 Nov; 136(46):16240-50. PubMed ID: 25347204
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI.
    Kassem H; Wafaie A; Abdelfattah S; Farid T
    Eur J Radiol; 2014 Jan; 83(1):191-6. PubMed ID: 24558666
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
    Roubertie A; Leboucq N; Picot MC; Nogue E; Brunel H; Le Bars E; Manes G; Angebault Prouteau C; Blanchet C; Mondain M; Chevassus H; Amati-Bonneau P; Sarzi E; Pagès M; Villain M; Meunier I; Lenaers G; Hamel CP
    J Neurol Sci; 2015 Feb; 349(1-2):154-60. PubMed ID: 25641387
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
    Shukla A; Hebbar M; Srivastava A; Kadavigere R; Upadhyai P; Kanthi A; Brandau O; Bielas S; Girisha KM
    J Hum Genet; 2017 Jul; 62(7):723-727. PubMed ID: 28356563
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ISCA1 is essential for mitochondrial Fe
    Beilschmidt LK; Ollagnier de Choudens S; Fournier M; Sanakis I; Hograindleur MA; Clémancey M; Blondin G; Schmucker S; Eisenmann A; Weiss A; Koebel P; Messaddeq N; Puccio H; Martelli A
    Nat Commun; 2017 May; 8():15124. PubMed ID: 28492233
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
    Babiker MOE
    Eur J Paediatr Neurol; 2018 Jan; 22(1):4-5. PubMed ID: 29289521
    [No Abstract]   [Full Text] [Related]  

  • 14. A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
    Lebigot E; Schiff M; Golinelli-Cohen MP
    Biomedicines; 2021 Aug; 9(8):. PubMed ID: 34440194
    [TBL] [Abstract][Full Text] [Related]  

  • 15. IBA57 Recruits ISCA2 to Form a [2Fe-2S] Cluster-Mediated Complex.
    Gourdoupis S; Nasta V; Calderone V; Ciofi-Baffoni S; Banci L
    J Am Chem Soc; 2018 Oct; 140(43):14401-14412. PubMed ID: 30269484
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
    Lebigot E; Gaignard P; Dorboz I; Slama A; Rio M; de Lonlay P; Héron B; Sabourdy F; Boespflug-Tanguy O; Cardoso A; Habarou F; Ottolenghi C; Thérond P; Bouton C; Golinelli-Cohen MP; Boutron A
    Mol Genet Metab; 2017 Nov; 122(3):85-94. PubMed ID: 28803783
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings.
    Uluc K; Baskan O; Yildirim KA; Ozsahin S; Koseoglu M; Isak B; Scheper GC; Gunal DI; van der Knaap MS
    J Neurol Sci; 2008 Oct; 273(1-2):118-22. PubMed ID: 18619624
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.
    Bindu PS; Arvinda H; Taly AB; Govindaraju C; Sonam K; Chiplunkar S; Kumar R; Gayathri N; Bharath Mm S; Nagappa M; Sinha S; Khan NA; Govindaraj P; Nunia V; Paramasivam A; Thangaraj K
    Mitochondrion; 2015 Nov; 25():6-16. PubMed ID: 26341968
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.