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Brain disorder
- ... lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous ...
- ... people with GABA-transaminase deficiency, which is a brain disease (encephalopathy) that begins in infancy. Babies with this ... S, Mathuranath PS, Taly AB. Hypersomnolence-hyperkinetic movement disorder in a ... aminotransferase (ABAT) gene. Brain Dev. 2017 Feb;39(2):161-165. doi: ...
- ... expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010 Mar;133(Pt 3):655-70. doi: ... 1;142(8):2303-2318. doi: 10.1093/brain/awz195. Citation on PubMed or Free article on PubMed ... Citation on PubMed
- ... commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in ... spinal cord involvement-high lactate syndrome Leukoencephalopathy with brain stem and ... ClinicalTrials.gov LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL ...
- ... Implications for Williams-Beuren syndrome and autism spectrum disorder. Brain Behav. 2017 Dec 19;8(1):e00895. doi: ...
- ... Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 2;88(5):910-917. doi: 10.1016/j.neuron.2015.11.009. Citation on PubMed or Free ... SWItching from malignancies to intellectual disability. Epigenetics. 2012 ...
- CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen ...
- ... DNMT1 are linked to a spectrum of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi: ... 137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10. Citation on PubMed ... Free article on PubMed Central
- ... deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain. 2005 Oct;128(Pt 10):2291-6. doi: ...
- ... DNMT1 are linked to a spectrum of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi: ...