Results 21 to 30 of about 6,089,967 (287)

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model

Scientific Reports
Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels.
Matthias Christen, Anne Gregor, Rodrigo Gutierrez-Quintana, Jos Bongers, Angie Rupp, Jacques Penderis, G. Diane Shelton, Vidhya Jagannathan, Christiane Zweier, Tosso Leeb   +9 more
doaj   +2 more sources

Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification [PDF]

Mitochondrial DNA. Part B. Resources, 2019
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS.
Lía Mayorga, Juan A. Cueto, Adriana P. Correa, María J. Guillamondegui, Mariana A. Loos, Verónica H. Araoz, Sergio R. Laurito, María Roqué   +7 more
doaj   +2 more sources

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review [PDF]

BMC Neurology
Background Leigh syndrome (LS) is an inherited form of mitochondrial encephalopathy associated with various gene mutations of the oxidative phosphorylation system, typically occurring in infancy or early childhood and resulting in disability or even ...
Yashi Liao, Yaxin Lai, Xinxin Chen, Shanshan Zhao   +3 more
doaj   +2 more sources

Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome

Proceedings of the National Academy of Sciences of the United States of America, 2017
Significance Inherited or acquired defects in mitochondria lead to devastating disorders for which we have no effective general therapies. We recently reported that breathing normobaric 11% O2 prevents neurodegeneration in a mouse model of a pediatric ...
M. Ferrari, I. Jain, O. Goldberger, Emanuele Rezoagli, Robrecht Thoonen, Kai-Hung Cheng, D. Sosnovik, M. Scherrer-Crosbie, V. Mootha, W. Zapol   +9 more
semanticscholar   +3 more sources

Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome. [PDF]

Nat Metab
Nakai R, Varnum S, Field RL, Shi H, Giwa R, Jia W, Krysa SJ, Cohen EF, Borcherding N, Saneto RP, Tsai RC, Suganuma M, Ohta H, Yokota T, Brestoff JR.   +14 more
europepmc   +2 more sources

Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome

Frontiers in Pediatrics, 2021
A number of causative mutations in mitochondrial and nuclear DNA have been identified for Leigh syndrome, a neurodegenerative encephalopathy, including m.
Jian-Min Liang, Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu, Xue-Mei Wu   +5 more
doaj   +1 more source

Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome. [PDF]

Pediatr Radiol
Dupré M, Warne R, Shipman P, Kava M, Ghia T, Loughman L, Lakshmanan R.   +6 more
europepmc   +3 more sources

Rare presentation of dandy-walker variant syndrome associated with leigh syndrome: a promising therapeutic approach for prognosis in children related in a case report. [PDF]

Oxf Med Case Reports
Pires BF, Lopo GIS, Siqueira AR, Felisberto LR, Martini RS, Alves ABV, Silva ACR, Carvalho FXL, Aliseda AP, Martins MM, Salgado CK, da Silveira Junior SB, Jacob CGF.   +12 more
europepmc   +3 more sources

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Annals of Neurology, 2023
Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent ...
E. McCormick, Kierstin N Keller, Julie Taylor, A. Coffey, Lishuang Shen, D. Krotoski, B. Harding, C. Alves, A. Ardissone, Renkui Bai, I.P. de Barcelos, E. Bertini, Krista K. Bluske, J. Christodoulou, Amanda R. Clause, W. Copeland, G. Diaz, D. Diodato, M. Dulik, G. Enns, A. Feigenbaum, C. Fratter, D. Ghezzi, A. Goldstein, A. Gropman, R. Haas, A. Karaa, M. Koenig, B. Monteleone, S. Parikh, B. P. Dueñas, Revathi Rajkumar, Ann Saada, R. Saneto, K. Sergeant, J. Shoffner, Conrad Smith, C. Stanley, Isabelle Thiffault, D. Thorburn, M. Walker, D. Wallace, L. Wong, Xiaowu Gai, Marni J. Falk, Z. Zolkipli-Cunningham, S. Rahman   +46 more
semanticscholar   +1 more source

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome

Orphanet Journal of Rare Diseases, 2023
Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts ...
Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben, Jessica L. Fetterman   +4 more
doaj   +1 more source