Recessive twinkle mutations cause severe epileptic encephalopathy.
about
Genetics of ischaemic stroke in young adultsRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceSDS, a structural disruption score for assessment of missense variant deleteriousness.Past, present and future therapeutics for cerebellar ataxias.The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyDefects of mitochondrial DNA replication.Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.Defects in mitochondrial DNA replication and human diseasePsychiatric involvement in adult patients with mitochondrial disease.Mitochondrial deficiency in Cockayne syndrome.Adult mitochondrial DNA depletion syndrome with mild manifestations.Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Endocrine disorders in mitochondrial disease.Human mitochondrial DNA replication machinery and disease.Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.Peripheral neuropathy associated with mitochondrial disease in children.Hypogonadism and neurological diseases.Mitochondrial epilepsy in pediatric and adult patients.Mitochondrial DNA maintenance: an appraisal.Mitochondrial disease and endocrine dysfunction.Genetics of mitochondrial dysfunction and infertility.Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.The hexameric structure of the human mitochondrial replicative helicase Twinkle.Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar AtaxiaTwinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.Mitochondrial Depletion Syndromes in Children and Adults
P2860
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P2860
Recessive twinkle mutations cause severe epileptic encephalopathy.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Recessive twinkle mutations cause severe epileptic encephalopathy.
@en
Recessive twinkle mutations cause severe epileptic encephalopathy.
@nl
type
label
Recessive twinkle mutations cause severe epileptic encephalopathy.
@en
Recessive twinkle mutations cause severe epileptic encephalopathy.
@nl
prefLabel
Recessive twinkle mutations cause severe epileptic encephalopathy.
@en
Recessive twinkle mutations cause severe epileptic encephalopathy.
@nl
P2093
P356
P1433
P1476
Recessive twinkle mutations cause severe epileptic encephalopathy.
@en
P2093
Anders Paetau
Helena Pihko
Tuula Lönnqvist
P304
P356
10.1093/BRAIN/AWP045
P407
P577
2009-03-20T00:00:00Z