Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
about
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathyPlasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyRecessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyChallenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesFunctional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.Next-generation sequencing for mitochondrial disordersMitochondrial epilepsy in pediatric and adult patients.Neuroimaging, nutrition, and iron-related genes.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next-generation sequencing applied to rare diseases genomics.Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.Identifying novel protein phenotype annotations by hybridizing protein-protein interactions and protein sequence similarities.Downregulation of miR-181b in mouse brain following ischemic stroke induces neuroprotection against ischemic injury through targeting heat shock protein A5 and ubiquitin carboxyl-terminal hydrolase isozyme L1.Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.Exomdiagnostik verändert die Sicht auf Mitochondriopathien
P2860
Q28975765-A51804EA-EBC6-4B26-A966-A5B09BB9274EQ33626540-6EE3BFCA-1BA3-4CB3-AE8B-91B0910625DCQ36406947-D292E8F6-89E1-4636-97B1-5B8CFFE1C01AQ36762850-CF5902A1-1B31-44B1-BB49-F52F49B14892Q36803807-8488829F-2C57-457B-B09D-504D68BDFA4FQ37686243-6B83FAC1-7016-46E1-B9D5-71C987E102E0Q38088309-077379AA-60E5-4DF5-BFD8-3CDF1574AB4EQ38118617-8A12FAC1-778E-444C-911C-D55E6BD5BF70Q38175288-E8BC4FFC-4AB2-43A1-8982-9B401E238535Q38202142-5C4C860B-94EF-4916-A5FB-5007717E818FQ39486694-3EB73E3B-95EA-469D-BAF4-D2A869C21527Q40148229-B267A433-4516-4137-8D18-6FEB7449E9B8Q47895437-B2203722-F818-4CD2-8E79-C2AE5ED86A51Q48004460-287506DB-43A3-46F9-970D-9A8C429C75E5Q48472700-F0DC6E71-6687-4BB6-AA7C-BD63290798FEQ53266768-C5C866A5-D435-457E-9751-9DAE35395524Q53778416-C6ECB1B4-F3FB-49D3-91EF-C01036AD509DQ55122683-80BB6C8A-B514-42CC-81C8-656570A097D7Q55383192-0B8AEECA-9F3D-4DA0-8EA7-8BEE77427DE8Q57251786-C0F39AF4-361F-4C65-86C4-5C734E2DDB43
P2860
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
description
2012 nî lūn-bûn
@nan
2012 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մարտին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@ast
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@en
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@nl
type
label
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@ast
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@en
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@nl
prefLabel
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@ast
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@en
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@nl
P2093
P2860
P50
P1476
Infantile cerebellar-retinal d ...... mitochondrial aconitase, ACO2.
@en
P2093
Asaf Ta-Shma
Avraham Shaag
Efrat Burak
Jonatan Halvardson
Muhammad Mahajna
Orly Elpeleg
Shamir Zenvirt
Shimon Edvardson
Stavit Shalev
P2860
P304
P356
10.1016/J.AJHG.2012.01.009
P407
P577
2012-03-01T00:00:00Z