Results 181 to 190 of about 6,089,967 (287)

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

Journal of Neurology, Neurosurgery & Psychiatry, 2015
P N Leigh, S Al-Sarraj, S DiMauro
openaire   +1 more source

Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing. [PDF]

Neurol Genet
Nakamura K, Kishita Y, Sugiura A, Ozaki K, Yatsuka Y, Matsumoto N, Okazaki A, Prokisch H, Maruyama K, Iwasa H, Murayama K, Matsumoto H, Ohtake A, Shiraishi Y, Okazaki Y.   +14 more
europepmc   +1 more source

Photoreceptors in a mouse model of Leigh syndrome are capable of normal light-evoked signaling [PDF]

, 2019
Sidney M. Gospe, Amanda M. Travis, Alexander V. Kolesnikov, Mikael Klingeborn, Luyu Wang, Vladimir J. Kefalov, Vadim Y. Arshavsky   +6 more
openalex   +1 more source

Serial cryoFIB/SEM reveals profound cytoarchitectural disruptions caused by a pathogenic mutation in Leigh syndrome patient cells [PDF]

, 2020
Yanan Zhu, Dapeng Sun, Andreas Schertel, Jiying Ning, Xiaofeng Fu, Pam Pam Gwo, Alan M. Watson, Zachary Freyberg, Peijun Zhang   +8 more
openalex   +1 more source

Progressive spinal cord involvement in Leigh syndrome due to an <i>NDUFV1</i> variant. [PDF]

Radiol Case Rep
Finsterer J.
europepmc   +1 more source

Knowledge of the underlying genetic defect and detailed phenotype can prevent complications from general anaesthesia in Leigh syndrome. [PDF]

Indian J Anaesth
Finsterer J.
europepmc   +1 more source

A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome

, 2021
Livia Lenzini, Miryam Carecchio, Elisabetta Iori, Andrea Legati, Eleonora Lamantea, Angelo Avogaro, Nicola Vitturi   +6 more
openalex   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome. [PDF]

Ann Clin Transl Neurol
Otero MG, Freeman C, Shah R, Bai R, Cui H, Castro M, Myers Z, Choy E, Chan D, Easter M, Zhao SY, Babros M, Garg R, Deardorff M, Moser F, Pierson TM.   +15 more
europepmc   +1 more source

Dysfunctional LHX6 pallido-subthalamic projections mediate epileptic events in a mouse model of Leigh syndrome. [PDF]

J Clin Invest
Sánchez-Benito L, González-Torres M, Fernández-González I, Cutando L, Royo M, Compte J, Vila M, Jurado S, Sanz E, Quintana A.   +9 more
europepmc   +1 more source

Diagnosing Leigh syndrome requires typical lesions on cerebral MRI. [PDF]

Clin Case Rep, 2023
Finsterer J.
europepmc   +1 more source