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Euromit 6. Proceedings of the European Meeting on Mitochondrial Pathology. 30 June-4 July 2004, Nijmegen, The Netherlands.

Subjects: DNA, Mitochondrial* ; Mitochondrial Diseases*; Animals

• Source: Biochimica et biophysica acta [Biochim Biophys Acta] 2004 Dec 06; Vol. 1659 (2-3), pp. 105-239.Publisher: Elsevier Pub. Co Country of Publication: Netherlands NLM ID: 0217513 Publication Model: Print Cited Medium: Print ISSN: 0006-3002

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The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.

• Authors : Zhao Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Zhao X

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/epidemiology ; Mutation*

• Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 733-744. Date of Electronic Publication: 2024 Aug 09.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

• Authors : Ambrose A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.; Bahl S

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

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 12; Vol. 19 (1), pp. 424. Date of Electronic Publication: 2024 Nov 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children.

• Authors : Gojanovich GS; Marsit CJ ...

Subjects: DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics ; HIV Infections*/HIV Infections*/HIV Infections*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

• Source: Mitochondrion [Mitochondrion] 2024 Nov; Vol. 79, pp. 101949. Date of Electronic Publication: 2024 Aug 30.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100968751 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Epigenetic reprogramming of mtDNA and its etiology in mitochondrial diseases.

• Authors : Kumar A; Department of Human Genetics and Molecular Medicines, Central University of Punjab, Bathinda, India.; Choudhary A

Subjects: Epigenesis, Genetic* ; DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics ; DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/metabolism

• Source: Journal of physiology and biochemistry [J Physiol Biochem] 2024 Nov; Vol. 80 (4), pp. 727-741. Date of Electronic Publication: 2024 Jun 12.Publisher: Servicio de Publicaciones de la Universidad De Navarra (departamentos de fisiología y nutrición y de bioquimica) Country of Publication: Spain NLM ID:

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Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.

• Authors : Akamatsu S; Department of Neurology, St. Marianna University School of Medicine, Kawasaki, 2168511, Japan.; Mitsuhashi S

Subjects: DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics ; Nanopore Sequencing*/Nanopore Sequencing*/Nanopore Sequencing*/methods ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

• Source: Scientific reports [Sci Rep] 2024 Oct 24; Vol. 14 (1), pp. 25161. Date of Electronic Publication: 2024 Oct 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders.

• Authors : Fernández AC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado, USA.; Estrella J

Subjects: Growth Differentiation Factor 15*/Growth Differentiation Factor 15*/Growth Differentiation Factor 15*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis

• Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12821. Date of Electronic Publication: 2024 Nov 24.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

• Authors : Kishita Y; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

Subjects: Whole Genome Sequencing* ; DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

• Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2025 Jan; Vol. 45 (1), pp. e16148. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.

• Authors : Greenberg-Kushnir N; Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Faculty of Medicinal and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

Subjects: Lipid Metabolism, Inborn Errors*/Lipid Metabolism, Inborn Errors*/Lipid Metabolism, Inborn Errors*/genetics ; Lipid Metabolism, Inborn Errors*/Lipid Metabolism, Inborn Errors*/Lipid Metabolism, Inborn Errors*/pathology ; Lipid Metabolism, Inborn Errors*/Lipid Metabolism, Inborn Errors*/Lipid Metabolism, Inborn Errors*/complications VLCAD deficiency

• Source: Pediatric blood & cancer [Pediatr Blood Cancer] 2025 Jan; Vol. 72 (1), pp. e31383. Date of Electronic Publication: 2024 Oct 13.Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Cascade testing in mitochondrial diseases: a cross-sectional retrospective study.

• Authors : Haque S; Nepean Hospital, Derby Street, Kingswood, NSW, 2747, Australia. .; The Kolling Institute, Royal North Shore Hospital, Reserve Road, St Leonards, NSW, 2065, Australia. .

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

• Source: BMC neurology [BMC Neurol] 2024 Sep 13; Vol. 24 (1), pp. 343. Date of Electronic Publication: 2024 Sep 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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