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Quoted phrase not found in phrase index: "Leigh syndrome with leukodystrophy"
Page 1
Neuropathological aspects of infantile spasms.
Jellinger K. Jellinger K. Brain Dev. 1987;9(4):349-57. doi: 10.1016/s0387-7604(87)80106-7. Brain Dev. 1987. PMID: 3324792 Review.
With regard to morphology and the presumed time of occurrence of the CNS lesions, four groups can be distinguished: (1) embryofetal lesions, including a) cerebral malformations or developmental disorders-agyria-pachygyria (lissencephaly), micrencephaly, micropolygyrias, (hemi)meg …
With regard to morphology and the presumed time of occurrence of the CNS lesions, four groups can be distinguished: (1) embryofetal lesions, …
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Loeffen JL, et al. Hum Mutat. 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10649489 Review.
We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent. Clinical phenotypes pr …
We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (establishe …
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X. Tang X, et al. Genes Genomics. 2022 Jun;44(6):691-698. doi: 10.1007/s13258-022-01260-x. Epub 2022 Apr 28. Genes Genomics. 2022. PMID: 35482246
BACKGROUND: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardio …
BACKGROUND: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial disea …
NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Mahesan A, Choudhary PK, Kamila G, Rohil A, Meena AK, Kumar A, Jauhari P, Chakrabarty B, Gulati S. Mahesan A, et al. Pediatr Neurol. 2024 Jun;155:91-103. doi: 10.1016/j.pediatrneurol.2024.02.012. Epub 2024 Mar 6. Pediatr Neurol. 2024. PMID: 38626668 Review.
METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature. Magnetic resonance imaging (MRI) patterns observed in these patients were split into th …
METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explor …
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. Antonicka H, et al. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. doi: 10.1093/hmg/ddg284. Epub 2003 Aug 19. Hum Mol Genet. 2003. PMID: 12928484
Patients with isolated COX deficiency are clinically and genetically heterogeneous, and mutations in several different assembly factors have been found to cause specific clinical phenotypes. Two of the most common clinical presentations, Leigh Syndrome and hypertrop …
Patients with isolated COX deficiency are clinically and genetically heterogeneous, and mutations in several different assembly factors have …
Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders.
Sener RN. Sener RN. Acta Radiol. 2004 Aug;45(5):561-70. doi: 10.1080/02841850410006128. Acta Radiol. 2004. PMID: 15515520
Disorders manifesting with a restricted diffusion pattern included metachromatic leukodystrophy (n = 2), phenylketonuria (n = 3), maple syrup urine disease (intermediate form) (n = 1), infantile neuroaxonal dystrophy (n = 1), Leigh (n = 2), Wilson (n = 3), an …
Disorders manifesting with a restricted diffusion pattern included metachromatic leukodystrophy (n = 2), phenylketonuria (n = 3), map …
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Valente L, et al. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160893 Free PMC article.
Both patients were affected by severe lactic acidosis and rapidly progressive, fatal encephalopathy. The EFG1-mutant patient had early-onset Leigh syndrome, whereas the EFTu-mutant patient had severe infantile macrocystic leukodystrophy with micropolygyria. S …
Both patients were affected by severe lactic acidosis and rapidly progressive, fatal encephalopathy. The EFG1-mutant patient had early-onset …
Glial bundles in spinal nerve roots. An immunocytochemical study stressing their nonspecificity in various spinal cord and peripheral nerve diseases.
Kimura T, Budka H. Kimura T, et al. Acta Neuropathol. 1984;65(1):46-52. doi: 10.1007/BF00689827. Acta Neuropathol. 1984. PMID: 6097087
GBs were numerous in classical cases (age 3-24 months), accompanying severe damage of the anterior horns and roots, but were less prominent in most cases of protracted course (age 2-8.5 years). Thus, development of GBs in the ARs of motor neuron disease at a young age seem …
GBs were numerous in classical cases (age 3-24 months), accompanying severe damage of the anterior horns and roots, but were less prominent …