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Mitochondrial CardiomyopathiesBarth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell StudiesSengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsCardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndromeCardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and functionInborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.Cardiolipin content, linoleic acid composition, and tafazzin expression in response to skeletal muscle overload and unload stimuli.Natural history of Barth syndrome: a national cohort study of 22 patients.Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotypeMouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.Cancer as a mitochondrial metabolic disease.Exogenous cardiolipin localizes to mitochondria and prevents TAZ knockdown-induced apoptosis in myeloid progenitor cells.A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeThe ionization properties of cardiolipin and its variants in model bilayers.Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth SyndromeLoss of protein association causes cardiolipin degradation in Barth syndrome.Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.Development of pharmacological strategies for mitochondrial disorders.A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndromeDiversity and function of membrane glycerophospholipids generated by the remodeling pathway in mammalian cells.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.The presence of anaemia negatively influences survival in patients with POLG disease.Understanding chronic neutropenia: life is short.Integration concepts for multi-organ chips: how to maintain flexibility?!Influence of tissue, diet, and enzymatic remodeling on cardiolipin fatty acyl profile.Betulinic acid induces a novel cell death pathway that depends on cardiolipin modification.Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy.Cardiomyopathy in a male patient with neutropenia and growth delayThe mitochondrial quality control protein Yme1 is necessary to prevent defective mitophagy in a yeast model of Barth syndrome.Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeAssessing olfactory functions in patients with Barth syndrome.Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.Barth syndrome cardiomyopathy.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Barth syndrome.
@ast
Barth syndrome.
@en
Barth syndrome.
@nl
type
label
Barth syndrome.
@ast
Barth syndrome.
@en
Barth syndrome.
@nl
prefLabel
Barth syndrome.
@ast
Barth syndrome.
@en
Barth syndrome.
@nl
P2093
P2860
P3181
P356
P1476
Barth syndrome
@en
P2093
Ann Bowron
Beverly Tsai-Goodman
Carolyn T Spencer
Iris L Gonzalez
Katherine R McCurdy
Matthew J Toth
Michael Ashworth
Michaela K Damin
Nicol Clayton
Richard I Kelley
P2860
P2888
P3181
P356
10.1186/1750-1172-8-23
P5008
P577
2013-02-12T00:00:00Z
P5875
P6179
1044816059