about
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesSANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceUrine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutationsDistal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationThe clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.A national perspective on prenatal testing for mitochondrial diseaseAccurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Three families with 'de novo' m.3243A > G mutation.Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeSudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsDefining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Recent Advances in Mitochondrial Disease.Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiencyThe m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.Decreased male reproductive success in association with mitochondrial dysfunction.MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Charlotte L Alston
@ast
Charlotte L Alston
@en
Charlotte L Alston
@es
Charlotte L Alston
@nl
Charlotte L Alston
@sl
type
label
Charlotte L Alston
@ast
Charlotte L Alston
@en
Charlotte L Alston
@es
Charlotte L Alston
@nl
Charlotte L Alston
@sl
prefLabel
Charlotte L Alston
@ast
Charlotte L Alston
@en
Charlotte L Alston
@es
Charlotte L Alston
@nl
Charlotte L Alston
@sl
P106
P21
P31
P496
0000-0003-2095-5464