Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  440 results for ""Mitochondrial Diseases""

Your Filters

Publisher : nature publishing group
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

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

Record details

Read More Add to Saved list
×
Academic Journal

COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction.

  • Authors : Pettenuzzo I; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/pathology ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis Coenzyme Q10 Deficiency

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 938-946. Date of Electronic Publication: 2024 May 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Mitochondria and the eye-manifestations of mitochondrial diseases and their management.

  • Authors : Chen BS; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/therapy

  • Source: Eye (London, England) [Eye (Lond)] 2023 Aug; Vol. 37 (12), pp. 2416-2425. Date of Electronic Publication: 2023 Apr 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment.

Subjects: Ubiquinone*/Ubiquinone*/Ubiquinone*/*deficiency; Ubiquinone*/Ubiquinone*/Ubiquinone*/genetics ; Ubiquinone*/Ubiquinone*/Ubiquinone*/therapeutic use Coenzyme Q10 Deficiency

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Apr; Vol. 32 (4), pp. 426-434. Date of Electronic Publication: 2024 Feb 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Chronic replication stress invokes mitochondria dysfunction via impaired parkin activity.

  • Authors : Kawabata T; Department of Stem Cell Biology, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan. .; Sekiya R

Subjects: Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/metabolism ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism

  • Source: Scientific reports [Sci Rep] 2024 Apr 03; Vol. 14 (1), pp. 7877. Date of Electronic Publication: 2024 Apr 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

  • Authors : Wu TH; Department of Pediatrics, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.; Peng J

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Aspartate-tRNA Ligase*

  • Source: Scientific reports [Sci Rep] 2023 Mar 14; Vol. 13 (1), pp. 4193. Date of Electronic Publication: 2023 Mar 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Microcirculation-driven mitochondrion dysfunction during the progression of experimental sepsis.

  • Authors : Fejes R; Institute of Surgical Research, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, 6720, Hungary.; Rutai A

Subjects: Sepsis* ; Mitochondrial Diseases*; Rats

  • Source: Scientific reports [Sci Rep] 2024 Mar 26; Vol. 14 (1), pp. 7153. Date of Electronic Publication: 2024 Mar 26.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity.

  • Authors : Yoon JG; Department of Pharmacology, BK21 Project of Yonsei Advanced Medical Science, Woo Choo Lee Institute for Precision Drug Development, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

Subjects: Arylamine N-Acetyltransferase*/Arylamine N-Acetyltransferase*/Arylamine N-Acetyltransferase*/genetics ; Arylamine N-Acetyltransferase*/Arylamine N-Acetyltransferase*/Arylamine N-Acetyltransferase*/metabolism ; Tuberculosis*/Tuberculosis*/Tuberculosis*/drug therapy

  • Source: Experimental & molecular medicine [Exp Mol Med] 2024 Mar; Vol. 56 (3), pp. 570-582. Date of Electronic Publication: 2024 Mar 01.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9607880 Publication Model: Print-Electronic

Record details

Read More Add to Saved list
×
Academic Journal

Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors.

  • Authors : Miyauchi A; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan. .; Watanabe C

Subjects: Ferroptosis* ; Mitochondrial Diseases*; Humans

  • Source: Scientific reports [Sci Rep] 2024 Feb 27; Vol. 14 (1), pp. 4820. Date of Electronic Publication: 2024 Feb 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

Record details

Read More Add to Saved list
×
Academic Journal

Fluvastatin-induced myofibrillar damage is associated with elevated ROS, and impaired fatty acid oxidation, and is preceded by mitochondrial morphological changes.

  • Authors : Al-Sabri MH; Department of Surgical Sciences, Division of Functional Pharmacology and Neuroscience, Biomedical Center (BMC), Uppsala University, Husargatan 3, 751 24, Uppsala, Sweden. .; Department of Pharmaceutical Biosciences, Uppsala University, 751 24, Uppsala, Sweden. .

Subjects: Hydrogen Peroxide* ; Mitochondrial Diseases*; Animals

  • Source: Scientific reports [Sci Rep] 2024 Feb 09; Vol. 14 (1), pp. 3338. Date of Electronic Publication: 2024 Feb 09.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

Record details

Read More Add to Saved list
×
  • 1-10 of  440 results for ""Mitochondrial Diseases""