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  • 1-10 ل  330 نتائج ل ""Mitochondrial disease""
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Academic Journal

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

  • Authors : Shayota BJ; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Subjects: Mutation*; Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics ; Kidney Diseases/Kidney Diseases/Kidney Diseases/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Dec; Vol. 7 (12), pp. e973. Date of Electronic Publication: 2019 Sep 30.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

Subjects: mitochondrial disease; mtDNA; nDNA

  • Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)Orphanet journal of rare diseases., London : BMC, 2023, vol. 18, art. no. 307, p. 1-10.

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Academic Journal

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease.

  • Authors : Lin DS; Department of Pediatrics, Mackay Memorial Hospital, Taipei 10449, Taiwan. .; Department of Medicine and Institute of Biomedical Sciences, Mackay Medical College, New Taipei 25245, Taiwan. .

Subjects: Models, Biological*; Autophagy/Autophagy/Autophagy/*genetics ; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics

  • Source: Cells [Cells] 2019 Jan 17; Vol. 8 (1). Date of Electronic Publication: 2019 Jan 17.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Print ISSN: 2073-4409 (Print)

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Academic Journal

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

  • Authors : Widgren P; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.

Subjects: Genome, Mitochondrial* ; Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2016 Feb; Vol. 94 (1), pp. 83-91. Date of Electronic Publication: 2015 Oct 08.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutations causing mitochondrial disease: What is new and what challenges remain?

  • Authors : Lightowlers RN; Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences and Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Taylor RW

Subjects: Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; Mitochondria/Mitochondria/Mitochondria/*metabolism

  • Source: Science (New York, N.Y.) [Science] 2015 Sep 25; Vol. 349 (6255), pp. 1494-9. Date of Electronic Publication: 2015 Sep 24.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic

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Academic Journal

MtDNA depletions are also one of major cause of mitochondrial disease.

  • Authors : Kurt YG; Department of Biochemistry, Gulhane Military Medical Academy and Medical School, Biochemistry , Ankara , Turkey.; Akgul EO

Subjects: Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*genetics

  • Source: Mitochondrial DNA [Mitochondrial DNA] 2014 Aug; Vol. 25 (4), pp. 303. Date of Electronic Publication: 2013 Jul 01.Publisher: Informa Healthcare Country of Publication: England NLM ID: 101487102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Mitochondrial disease--an important cause of end-stage renal failure.

Subjects: Mutation*; Kidney/Kidney/Kidney/*metabolism ; Kidney Failure, Chronic/Kidney Failure, Chronic/Kidney Failure, Chronic/*genetics

  • Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2013 Mar; Vol. 28 (3), pp. 357-61. Date of Electronic Publication: 2012 Dec 12.Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  330 نتائج ل ""Mitochondrial disease""