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MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases (MITOMICS)

• Source: Interest of Multi-omics (WES / RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases

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Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells (RNAseq)

• Source: Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells

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Clinical Study of Hydroxytyrosol (HT) in Mitochondrial Diseases

• Authors : The University of Hong Kong; Fung Cheuk Wing, Consultant

• Source: Open Label Pilot Study Using Hydroxytyrosol (HT) as a Dietary Supplement in Patients With Mitochondrial Diseases (MDs)Koene S,

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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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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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The Natural History of Mitochondrial Diseases

• Source: The Natural History of Mitochondrial DiseasesDavis RL, Liang C, Sue CM. A comparison of current serum biomarkers as diagnostic

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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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Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers

• Source: Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers

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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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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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