Results 21 to 30 of about 12,985,405 (284)

Adult-onset Leigh′s disease: A rare entity

Annals of Indian Academy of Neurology, 2016
Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described.
Shaik Afshan Jabeen, G Sandeep, Kandadai Rukmini Mridula, Angamuttu Kanikannan Meena, Rupam Borgohain, Challa Sundaram   +5 more
doaj   +3 more sources

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency [PDF]

American Journal of Human Genetics, 1998
Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo, C. Galimberti, M. Munaro, Matteo Granatiero, Leopoldo Zelante, Paolo Gasparini, R. Marzella, Mariano Rocchi, M. Pilar Bayona‐Bafaluy, José Antonio Enrı́quez, Graziella Uziel, Enrico Bertini, Carlo Dionisi‐Vici, Brunella Franco, Thomas Meitinger, Massimo Zeviani   +17 more
openalex   +2 more sources

Volatile anaesthetic toxicity in the genetic mitochondrial disease Leigh syndrome [PDF]

British Journal of Anaesthesia, 2023
Kira A. Spencer, Michael Mulholland, John Snell, Miranda Howe, Katerina James, Allison R. Hanaford, Philip G. Morgan, Margaret M. Sedensky, Simon C. Johnson   +8 more
openalex   +2 more sources

Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome) [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2015
P N Leigh, S Al-Sarraj, S DiMauro
openaire   +3 more sources

Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome [PDF]

Annals of Child Neurology, 2022
Purpose Diagnosing Leigh syndrome (LS), a representative mitochondrial disease, remains challenging. Mitochondrial DNA (mtDNA)-associated LS, which is maternally inherited, has relatively well-known genetic variants.
Ji-Hoon Na, Je Hee Shin, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source

Leigh disease associated with a novel mitochondrial DNA ND5 mutation [PDF]

European Journal of Human Genetics, 2002
Robert W. Taylor, Andrew A.M. Morris, Michael Hutchinson, Douglass M. Turnbull   +3 more
openalex   +2 more sources

Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4−/− mice

Brain : a journal of neurology, 2022
Leigh disease, or subacute necrotizing encephalomyelopathy, a genetically heterogeneous condition consistently characterized by defective mitochondrial bioenergetics, is the most common oxidative-phosphorylation related disease in infancy.
Samantha Corrà, R. Cerutti, V. Balmaceda, C. Viscomi, M. Zeviani   +4 more
semanticscholar   +1 more source

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Frontiers in Pharmacology, 2021
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes or the effects ...
Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang   +7 more
doaj   +1 more source

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

Proceedings of the National Academy of Sciences of the United States of America, 2017
Michele Ferrari, Emanuele Rezoagli, David E Sosnovik   +2 more
exaly   +2 more sources

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