CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
about
The many faces of paediatric mitochondrial disease on neuroimaging.Genomic diagnosis for children with intellectual disability and/or developmental delayNew perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.The presence of anaemia negatively influences survival in patients with POLG disease.A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.Mitochondrial Quality Control Proteases in Neuronal Welfare.Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.PARL mediates Smac proteolytic maturation in mitochondria to promote apoptosis.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Hsp78 (78 kDa Heat Shock Protein), a Representative AAA Family Member Found in the Mitochondrial Matrix of Saccharomyces cerevisiae.Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.The functional genomics laboratory: functional validation of genetic variants.Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.Mitochondrial Chaperones in the Brain: Safeguarding Brain Health and Metabolism?Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.Mitochondriopathien – neue Trends in Diagnostik und Therapie
P2860
Q31116989-12D5EFDB-83F7-4218-8C6B-A49737560BBDQ33737759-D329C196-7348-4921-979C-979DBE41A649Q34530586-B8A15A18-F71C-40D6-B692-7F837289D9D7Q37547480-46C9710F-8EC5-4694-8CC9-22DBC659DC13Q38597046-87EDF231-FC14-4FF6-BA44-4F6F5958BD07Q38688743-A97C5F65-3B61-4B0F-BD2A-B1DD094FB6A5Q38823556-1694394F-B2A4-497C-ADFD-71E4886D67F7Q38894349-3422CDC8-6ED9-43CA-9730-E8F0E873F61AQ38911131-62B78679-52DF-4FA5-97F3-B749F8A1B1F5Q39438083-0C6D57E2-A668-48AD-AEFD-0A1A3E203FB8Q41525997-3F63D9D2-DF0B-4229-ADC9-1EEAE2B18C9BQ47123721-68FD317A-2051-4568-82CB-9548CBEA2233Q47231456-5D6E6612-4119-44E7-A825-7F8EA70DF2E8Q47278835-8331F902-519B-4F59-AC2F-034D32DFFC52Q48090122-4420AF57-B518-4320-B6ED-86AB0178BA61Q48123477-2F8D6683-BEA9-491A-B6A8-722EF3A73262Q49991801-B7FC306A-0163-40B7-A934-B02EC74D22C6Q53716635-890A8A96-52F8-4D87-AFE4-C42E0C37F315Q55283805-DDBDD8BC-DD4A-40FA-96DC-66B9CF4709B4Q55442253-44E74EA7-399E-4D67-A0FB-8B41AA88D2A9Q57251779-A6D7248C-F5F8-46F8-A33D-C1A9A8436200
P2860
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
description
2015 nî lūn-bûn
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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2015 թվականի հունվարին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@ast
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@en
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@nl
type
label
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@ast
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@en
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@nl
prefLabel
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@ast
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@en
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@nl
P2093
P2860
P50
P1476
CLPB mutations cause 3-methylg ...... , cataracts, movement disorder
@en
P2093
Aleksandar Rakovic
Ania C Muntau
Arjan P M de Brouwer
Clara van Karnebeek
Elzbieta Chrusciel
Felix Distelmaier
Frédéric M Vaz
G Herma Renkema
Hans van Bokhoven
Joop H Jansen
P2860
P304
P356
10.1016/J.AJHG.2014.12.013
P407
P50
P577
2015-01-15T00:00:00Z