Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
about
Key Targets for Multi-Target Ligands Designed to Combat NeurodegenerationSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseA mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth diseaseA slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorderExome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyNeuroglobin gene therapy prevents optic atrophy and preserves durably visual function in Harlequin mice.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyBasal metabolic state governs AIF-dependent growth support in pancreatic cancer cells.Next-generation sequencing in X-linked intellectual disability.Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4.The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.AIF inhibits tumor metastasis by protecting PTEN from oxidation.Loss of apoptosis-inducing factor critically affects MIA40 function.CHCHD4 links AIF to the biogenesis of respiratory chain complex I.AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.Next-generation sequencing for mitochondrial disordersCharcot-Marie-Tooth disease and pathways to molecular based therapies.A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.A Review of X-linked Charcot-Marie-Tooth Disease.Mitochondrial dysfunction underlies cognitive defects as a result of neural stem cell depletion and impaired neurogenesis.Mitochondrial disulfide relay and its substrates: mechanisms in health and disease.X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Defining NADH-Driven Allostery Regulating Apoptosis-Inducing Factor.X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.Detergent Insoluble Proteins and Inclusion Body-Like Structures Immunoreactive for PRKDC/DNA-PK/DNA-PKcs, FTL, NNT, and AIFM1 in the Amygdala of Cognitively Impaired Elderly Persons.A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.Microscale 3D Liver Bioreactor for In Vitro Hepatotoxicity Testing under Perfusion Conditions.X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.WAH-1/AIF regulates mitochondrial oxidative phosphorylation in the nematode Caenorhabditis elegans.Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.A disease-associated Aifm1 variant induces severe myopathy in knockin mice.X-Linked Sensorineural Hearing Loss: A Literature ReviewApoptosis inducing factor deficiency causes retinal photoreceptor degeneration. The protective role of the redox compound methylene blue
P2860
Q28077589-5187143A-DA19-42FB-8648-0DFAB81CB473Q28118095-B786E28B-857D-4054-B757-C9D6B6A8638CQ28246639-E05E11AE-4DF0-45C3-B94B-160AF3404D09Q30397903-212779A2-51C6-4FA4-85BA-E6D468C459EAQ30405518-A810BF20-5DFE-4D98-BE55-BCF7130D8EEDQ33620795-0D2E99CD-DB8E-4786-9206-46155B1EA9D0Q33724242-E04AE47E-B5F2-4689-8DFE-CAA124B0A942Q35984327-A091EAD1-F06F-470E-96C7-E8CC14485217Q35997632-F91D534F-B6B7-401D-8C01-6DC7B21B279FQ36184604-83BE8370-FC49-489D-A632-70E618712A8DQ36187248-CE841953-AFC8-4429-8231-17465ACB34A9Q36246291-12576A16-92F2-400E-A748-BD49BD1A491BQ36270879-40129BC1-4010-4362-90E1-410A29363983Q36293830-7AEAE5DF-F588-4B70-9E4B-DD905A81068BQ36998017-91A858A9-666A-463A-AF2D-BA7D3FD8C3BAQ37678110-3374B243-4FB6-4E9C-B193-5BECAEB4F875Q37686243-D0A7225E-EAC2-476F-81EF-915494AF2295Q38201741-4802DBB7-D2EF-40E0-8117-8B6514429DC1Q38502090-E25550EB-DF7A-4BDD-9AFA-60C7CDFE45AAQ38589445-BE987D57-143C-495C-A5E7-62D9191C5BD3Q38736014-C7E8EB63-DDB9-46F6-B5FD-337AEA33C354Q38932389-1681587C-9E89-4F19-83E7-FD3DDE5FC468Q40156896-062DDA3D-EEB8-4B56-BAD8-D7278150B06CQ46150120-B98CF87D-EDE8-4910-BE77-F601CDD379BCQ47124322-4D2BE5F1-5B42-47E0-8E0E-BB796FB50D3FQ47351811-D42AFA33-A3BB-4C40-9F5E-17C7AE75670DQ47702623-79E2E7DF-6982-464B-B136-725E64FCCDE1Q47829716-69CC7BE0-9923-43B0-B387-98AFC9168D98Q50316569-28085786-8EA8-42D6-A282-0E5FB8DCD2DAQ52807500-A3BF3FC2-BAEB-4238-8D17-715BC45251A7Q54220036-54A3D1BF-44AB-41A6-A552-3587944C03CBQ55027001-60B36826-6C70-4DF5-95D2-FC17EA3726D2Q55265243-DA855503-4277-4D7E-AB32-3C932A6464ECQ55286697-8C8FC2BA-DF1B-4129-A1CF-414718DBA1EEQ55435412-64CE97ED-8AF1-42FF-ABD7-95BF3878591EQ57171854-BFFABFC9-8380-4143-AC57-7751377A581EQ57299773-05C62947-5A8B-4AE8-955D-E7C4E7D10D21
P2860
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին 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
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@ast
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en-gb
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@nl
type
label
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@ast
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en-gb
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@nl
altLabel
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
@en
prefLabel
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@ast
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en-gb
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@nl
P2093
P2860
P50
P921
P3181
P1476
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
@en
P2093
Alice Schindler
Barrington G Burnett
Carlo Rinaldi
Carsten Bönnemann
Christopher Grunseich
Guida Landouré
Iren Horkayne-Szakaly
Irina F Sevrioukova
Kenneth H Fischbeck
Marina L Kennerson
P2860
P304
P3181
P356
10.1016/J.AJHG.2012.10.008
P407
P577
2012-12-07T00:00:00Z