Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
about
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsGenetics of Human and Canine Dilated CardiomyopathyPhysiological consequences of complex II inhibition for aging, disease, and the mKATP channelRare variant mutations identified in pediatric patients with dilated cardiomyopathyMagnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.Current views on cell metabolism in SDHx-related pheochromocytoma and paragangliomaThe mutations associated with dilated cardiomyopathyStructural basis for malfunction in complex II.PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompactionLeukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencySuccinate dehydrogenase B subunit immunohistochemical expression predicts aggressiveness in well differentiated neuroendocrine tumors of the ileum.The power of yeast to model diseases of the powerhouse of the cell.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytomaMitochondrial respiratory chain complexes: apoptosis sensors mutated in cancer?Cardiological manifestations of mitochondrial respiratory chain disorders.Impaired TCA cycle flux in mitochondria in skeletal muscle from type 2 diabetic subjects: marker or maker of the diabetic phenotype?Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.Genetic testing for inherited cardiac disease.Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.Redox proteomic identification of HNE-bound mitochondrial proteins in cardiac tissues reveals a systemic effect on energy metabolism after doxorubicin treatment.Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.Isolation and analysis of genes mainly expressed in adult mouse heart using subtractive hybridization cDNA library.
P2860
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P2860
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@ast
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@en
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@nl
type
label
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@ast
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@en
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@nl
prefLabel
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@ast
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@en
Familial neonatal isolated car ...... it of succinate dehydrogenase.
@nl
P2093
P2860
P356
P1476
Familial neonatal isolated car ...... nit of succinate dehydrogenase
@en
P2093
Aviva Levitas
Emad Muhammad
Esther Manor
Gali Harel
John C Beck
Ruti Parvari
Vered Chalifa Caspi
P2860
P2888
P304
P356
10.1038/EJHG.2010.83
P577
2010-06-16T00:00:00Z