Results 121 to 130 of about 50,342 (212)

Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature. [PDF]

Biology (Basel)
Shen L.
europepmc   +1 more source

Leigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice. [PDF]

Cell Mol Neurobiol
Fouché BR, Khumalo SG, Koopman WJH, Venter M.   +3 more
europepmc   +1 more source

Fatal Presentation of Leigh Syndrome in a Neonate: Comprehensive Neuroimaging Findings With MT-ND5 Mutation. [PDF]

Cureus
Radder S, Radder N.
europepmc   +1 more source

AI-powered neuroimaging markers: a new era in paediatric Leigh syndrome diagnosis. [PDF]

Ann Med Surg (Lond)
Yasser R, Imran F, Khalid M, Talha M, Waafira A.   +4 more
europepmc   +1 more source

Energy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice. [PDF]

J Inherit Metab Dis
Terburgh K, Sweeney N, Louw R.
europepmc   +1 more source

Remimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report. [PDF]

JA Clin Rep
Kuwabara T, Tamura T, Takakura M, Fujii T, Ozeki K, Akiyama K.   +5 more
europepmc   +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

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

Radiol Case Rep
Finsterer J.
europepmc   +1 more source

A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy. [PDF]

Mov Disord
Bovenzi R, Severino M, Nichols J, Shen F, Keller Sarmiento IJ, Bustos BI, Kinsley L, Krainc D, Mencacci NE.   +8 more
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