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Quoted phrase not found in phrase index: "Leigh syndrome with leukodystrophy"
Page 1
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
OBJECTIVE: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. DESIGN: Cohort study. SETTING: National Health Service, England, including secondary and tertiary care. ...Most diagnoses were non-mitochon …
OBJECTIVE: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. …
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E. Ardissone A, et al. Eur J Neurol. 2023 Jul;30(7):2079-2091. doi: 10.1111/ene.15814. Epub 2023 Apr 25. Eur J Neurol. 2023. PMID: 37038312 Free article. Review.
Extraneurological manifestations and isolated myopathy appear to be rare, unlike adult phenotypes. Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, represent unfavorable prognostic …
Extraneurological manifestations and isolated myopathy appear to be rare, unlike adult phenotypes. Deep gray matter involvement, early di …
The role of complex II in disease.
Hoekstra AS, Bayley JP. Hoekstra AS, et al. Biochim Biophys Acta. 2013 May;1827(5):543-51. doi: 10.1016/j.bbabio.2012.11.005. Epub 2012 Nov 20. Biochim Biophys Acta. 2013. PMID: 23174333 Free article. Review.
In addition, congenital complex II deficiencies due to inherited homozygous mutations of the catalytic components of complex II (SDHA and SDHB) and the SDHAF1 assembly factor lead to childhood disease including Leigh syndrome, cardiomyopathy and infantile …
In addition, congenital complex II deficiencies due to inherited homozygous mutations of the catalytic components of complex II (SDHA and SD …
Neuroimaging of mitochondrial disease.
Saneto RP, Friedman SD, Shaw DW. Saneto RP, et al. Mitochondrion. 2008 Dec;8(5-6):396-413. doi: 10.1016/j.mito.2008.05.003. Epub 2008 May 23. Mitochondrion. 2008. PMID: 18590986 Free PMC article. Review.
Mitochondrial disease represents a heterogeneous group of genetic disorders that require a variety of diagnostic tests for proper determination. ...When found, these results are suggestive of a mitochondrial disease. MRI and MRS studies may also show non-specific fi …
Mitochondrial disease represents a heterogeneous group of genetic disorders that require a variety of diagnostic tests for proper det …
Human cytochrome oxidase deficiency.
Robinson BH. Robinson BH. Pediatr Res. 2000 Nov;48(5):581-5. doi: 10.1203/00006450-200011000-00004. Pediatr Res. 2000. PMID: 11044474 Review.
Early recognition of complementation groups within, for instance, the Leigh syndrome group has recently been followed up with a description of the gene defect for three of the nuclear-encoded forms of cytochrome c oxidase (COX) deficiency. The three genes indicted, …
Early recognition of complementation groups within, for instance, the Leigh syndrome group has recently been followed up with …
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 …
Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center.
Alrifai MT, AlShaya MA, Abulaban A, Alfadhel M. Alrifai MT, et al. Pediatr Neurol. 2014 Sep;51(3):390-7. doi: 10.1016/j.pediatrneurol.2014.05.015. Epub 2014 May 21. Pediatr Neurol. 2014. PMID: 25160544
BACKGROUND: Infantile spasms are a devastating infantile epileptic syndrome with multiple etiologies. Hereditary neurometabolic disorders are rarely recognized causes of infantile spasms. ...A hereditary neurometabolic disorder was diagnosed in 10 patients (12.5%). Of thes …
BACKGROUND: Infantile spasms are a devastating infantile epileptic syndrome with multiple etiologies. Hereditary neurometabolic disor …
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Baker PR 2nd, et al. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. Brain. 2014. PMID: 24334290 Free PMC article.
Clinical features of BOLA3-associated variant nonketotic hyperglycinemia include severe neurodegeneration after a period of normal development. Additional features include leukodystrophy, cardiomyopathy and optic atrophy. Patients with lipoate synthase-deficient variant no …
Clinical features of BOLA3-associated variant nonketotic hyperglycinemia include severe neurodegeneration after a period of normal developme …
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 …
12 results