Search Results - "Schaefer AM"

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

Authors: Ohtake, Akira Abe, Yuichi Murayama, Kei et al.

Source: PLoS ONE. 7/17/2026, Vol. 21 Issue 7, p1-22. 22p.

Kygevvi (doxecitine and doxribtimine) for thymidine kinase 2 deficiency: a turning point for an ultra-rare mitochondrial disorder.

Authors: Bob-Ume, Nwamaka Chidera Omotoso, Esther Oluwafunmilayo Bob-Ume, Chizoba Sandra et al.

Source: Journal of Rare Diseases. 6/8/2026, Vol. 5 Issue 1, p1-7. 7p.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Authors: Gao, Fei Schon, Katherine R Vandrovcova, Jana et al.

Source: Annals of Clinical & Translational Neurology. Aug2025, Vol. 12 Issue 8, p1680-1688. 9p.

Adjunctive transcranial DC stimulation in the management of refractory drug-resistant focal epilepsy in POLG mitochondrial disease: A case series.

Authors: Bangel KA Ng Y Lim A et al.

Source: Seizure [Seizure] 2026 May 09. Date of Electronic Publication: 2026 May 09.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Isolation and preliminary characterization of extracellular vesicles from bottlenose dolphin (Tursiops truncatus) and long-finned pilot whale (Globicephala melas) blow.

Authors: Moccia, Valentina Centelleghe, Cinzia Zendrini, Andrea et al.

Source: PLoS ONE. 7/1/2026, Vol. 21 Issue 7, p1-15. 15p.

Cochlear implantation in MELAS syndrome: a systematic review of audiological outcomes, surgical considerations, and clinical implications.

Authors: Elisha, David H. Hossain, Ryan Cohen, David H. et al.

Source: Journal of Rare Diseases. 6/10/2026, Vol. 5 Issue 1, p1-13. 13p.

Effects of chemotherapy on skeletal muscle mitochondrial oxidative capacity using near-infrared spectroscopy (NIRS): Protocol paper for an observational mixed model repeated measures design in patients with breast and gynecological cancer.

Authors: Hutchison, Randolph Edward Smith, Shannon Caudell, Chloe et al.

Source: PLoS ONE. 6/27/2025, Vol. 20 Issue 6, p1-13. 13p.

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.

Authors: Bhattacharjee S Lenassi E Taylor RW et al.

Source: Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 17. Date of Electronic Publication: 2024 Dec 12.

Publication Type: Letter

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE; In Process

Characterization of eclosion hormone receptor function reveals differential hormonal control of ecdysis during Drosophila development.

Authors: Silva, Valeria Scott, Robert Guajardo, Paulina et al.

Source: PLoS Genetics. 8/20/2025, Vol. 21 Issue 8, p1-25. 25p.

Effects of exercise training on skeletal muscle function in patients with mitochondrial myopathy: a systematic review.

Authors: Wan, Qiliang Ding, Yi Liu, Wenduo et al.

Source: Frontiers in Sports & Active Living. 2026, p1-19.

Scores for Multivariate Distributions and Level Sets.

Authors: Meng, Xiaochun Taylor, James W. Ben Taieb, Souhaib et al.

Source: Operations Research. Jan/Feb2025, Vol. 73 Issue 1, p344-362. 19p.

A Novel Pathogenic Haplotype in CDH23 Causing DFNB12: The Combined Effect of Two Individually Benign Variants.

Authors: Tian, Zi-Xin Zhang, Jun Wang, Zi-Xuan et al.

Source: Balkan Medical Journal. Apr2026, Vol. 43 Issue 4, p206-211. 6p.

Influence of environmental factors and tributaries on toxic cyanobacterial growth.

Authors: Herrera, Natalia Llano, Susana Peñuela, Gustavo

Source: PLoS ONE. 3/13/2026, Vol. 21 Issue 3, p1-17. 17p.

Deep learning detection of dynamic exocytosis events in fluorescence TIRF microscopy.

Authors: Lachuer, Hugo Moebel, Emmanuel Macé, Anne-Sophie et al.

Source: PLoS Computational Biology. 10/14/2025, Vol. 21 Issue 10, p1-21. 21p.

Resilience-based assessment of seismic risk by investigating the socioeconomic and structural earthquake engineering factors.

Authors: Narjabadifam, Peyman Karazmay, Farshad Noori, Mohammad et al.

Source: Environmental Earth Sciences; May2025, Vol. 84 Issue 10, p1-24, 24p

Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.

Authors: Vendrig, Lisanne M. ten Hoor, Mayke A. C. König, Benthe H. et al.

Source: Pediatric Nephrology. Mar2025, Vol. 40 Issue 3, p685-699. 15p.

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

Authors: Karaa, Amel Bertini, Enrico Carelli, Valerio et al.

Source: Orphanet Journal of Rare Diseases. 11/21/2024, Vol. 19 Issue 1, p1-12. 12p.

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Mitochondrial disease management through phytochemical interventions.

Authors: Ramya RP Megha KB Reshma S et al.

Source: Molecular and cellular biochemistry [Mol Cell Biochem] 2025 Dec; Vol. 480 (12), pp. 5911-5940. Date of Electronic Publication: 2025 Aug 03.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 0364456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4919 (Electronic) Linking ISSN: 03008177 NLM ISO Abbreviation: Mol Cell Biochem Subsets: MEDLINE

Mercury concentration in fish and shellfish in Kuwait.

Authors: Al Qabandy, Sara Aloumi, Abdullatif Al Enezi, Fajer et al.

Source: Toxicology Communications. Dec2025, Vol. 9 Issue 1, p1-6. 6p.