PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

Autor: Rambani V; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Kolnikova M; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Cagalinec M; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Skopkova M; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Gasperikova D; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.

Publikováno v: Neurology. Genetics [Neurol Genet] 2023 Nov 14; Vol. 9 (6), pp. e200106. Date of Electronic Publication: 2023 Nov 14 (Print Publication: 2023).

Mitochondria and mitochondrial disorders: an overview update.

Autor: Rambani V; Institute of Experimental Endocrinology, Biomedical Research Canter, Slovak Academy of Sciences, Bratislava, Slovakia., Hromnikova D; Institute of Experimental Endocrinology, Biomedical Research Canter, Slovak Academy of Sciences, Bratislava, Slovakia., Gasperikova D; Institute of Experimental Endocrinology, Biomedical Research Canter, Slovak Academy of Sciences, Bratislava, Slovakia., Skopkova M; Institute of Experimental Endocrinology, Biomedical Research Canter, Slovak Academy of Sciences, Bratislava, Slovakia.

Publikováno v: Endocrine regulations [Endocr Regul] 2022 Jul 13; Vol. 56 (3), pp. 232-248. Date of Electronic Publication: 2022 Jul 13.

Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models.

Autor: Brügel, Marcel, Kiesel, Ann-Sophie, Haack, Tobias B., Peralta, Susana

Publikováno v: Frontiers in Neuroscience; 2024, p1-7, 7p

In Vitro Cell Death Mechanisms Induced by Dicoma anomala Root Extract in Combination with ZnPcS 4 Mediated-Photodynamic Therapy in A549 Lung Cancer Cells.

Autor: Chota, Alexander¹ (AUTHOR), George, Blassan P.¹ (AUTHOR) blassang@uj.ac.za, Abrahamse, Heidi¹ (AUTHOR)

Publikováno v: Cells (2073-4409). Oct2022, Vol. 11 Issue 20, p3288-N.PAG. 22p.

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Autor: Hassaan HM; Pediatric Department, Genetic Division, Faculty of Medicine, Cairo University, Cairo, Egypt., Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Almenabawy N; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., Robertson FM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Girgis MY; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., Mahmoud IGED; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., Amer F; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., Samaha M; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., Shaheen Y; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., ElNaggar W; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt., Abdoh D; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Mehaney DA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Meguid IEA; Pediatric Department, Genetic Division, Faculty of Medicine, Cairo University, Cairo, Egypt., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Selim L; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 14, pp. e63881. Date of Electronic Publication: 2024 Oct 14.