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Academic Journal

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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Academic Journal

Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.

  • Authors : Cicchinelli M; Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Primiano G

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism ; Phenotype*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 05; Vol. 25 (19). Date of Electronic Publication: 2024 Oct 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

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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Academic Journal

Fetal and obstetrics manifestations of mitochondrial diseases.

  • Authors : Adelizzi A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.; Giri A

Subjects: Mitochondrial Diseases* ; Fetus*; Humans

  • Source: Journal of translational medicine [J Transl Med] 2024 Sep 23; Vol. 22 (1), pp. 853. Date of Electronic Publication: 2024 Sep 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Academic Journal

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

  • Authors : Zhao X; Department of Neurology, Beijing Jishuitan Hospital, Capital Medical University, Beijing, 102208, China.; Yu M

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis; Humans ; Cross-Sectional Studies

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 02; Vol. 19 (1), pp. 287. Date of Electronic Publication: 2024 Aug 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.

Subjects: Fibroblasts*/Fibroblasts*/Fibroblasts*/metabolism ; Fibroblasts*/Fibroblasts*/Fibroblasts*/drug effects ; Glucosides*/Glucosides*/Glucosides*/pharmacology

  • Source: Biomolecules [Biomolecules] 2024 May 18; Vol. 14 (5). Date of Electronic Publication: 2024 May 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Academic Journal

iPSC models of mitochondrial diseases

Subjects: Mitochondrial diseases; Disease modeling; Pluripotent stem cells

  • Source: Neurobiology of Disease, Vol 207, Iss , Pp 106822- (2025)

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Academic Journal

Mitochondrial diseases: from molecular mechanisms to therapeutic advances

Subjects: Medicine; Biology (General); QH301-705.5

  • Source: Signal Transduction and Targeted Therapy, Vol 10, Iss 1, Pp 1-54 (2025)

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Academic Journal

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Subjects: Biochemistry and Cell Biology; Biomedical and Clinical Sciences; Genetics

  • Source: Communications Biology. 6(1)

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Academic Journal

Protein Nitration in Patients with Mitochondrial Diseases

Subjects: nitric oxide; mitochondrial diseases; protein nitration

  • Source: Antioxidants, Vol 14, Iss 2, p 211 (2025)

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  • 1-10 of  7,027 results for ""Mitochondrial Diseases""