About: New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

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About: New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset Goto Sponge NotDistinct Permalink

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scientific article published on 26 May 2012

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована в травні 2012 (uk) im Mai 2012 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 26 May 2012 (en) artículu científicu espublizáu en mayu de 2012 (ast)
publication date	wds:Q84230483-9ECDAC2E-9C4F-4F0D-A604-A7ABBE50BD6B
publication date	2012-05-26 00:00:00Z (xsd:dateTime)
exact match	wds:Q84230483-CA65F257-48AA-4E3F-B6B9-A34B33380DD2
exact match	https://scigraph.springernature.com/pub.10.1007/s10048-012-0322-0
cites work	wds:Q84230483-08880326-17EA-4389-ABBB-02B20D4D809E wds:Q84230483-1996F58B-5EB6-43F1-AB34-9FA58575CB5B wds:Q84230483-2400E5F8-B38E-4303-B404-DF996FA4C7B9 wds:Q84230483-2BD10B47-5C15-455A-ADA7-B60A9FCF124F wds:Q84230483-3B3443F7-E7E3-489E-A275-8FC21794459D wds:Q84230483-528ACA6B-3115-4DDA-AD41-E5406CC57BD0 wds:Q84230483-535BFEE5-8FE4-4CD7-A95A-5EE7E53FE8EC wds:Q84230483-60E34926-884B-424A-BB94-FA6ADD7C7786 wds:Q84230483-640D4842-FC22-456C-8E7F-3ECB9E585275 wds:Q84230483-69CE1EB1-8569-484A-973E-A140EDB2BBA9 wds:Q84230483-784575A4-71BF-41E1-A763-1D19CBBA36CE wds:Q84230483-843F31BC-1D9D-4F19-8201-B188D7A093B6 wds:Q84230483-85B267B6-9FF9-446A-8AFF-F8C70B23A4F0 wds:Q84230483-894FC104-3784-4673-94CF-DB626EF3906E wds:Q84230483-922912B7-4A1A-485A-A010-1A2E74BF4665 wds:Q84230483-A5EB66DA-73C7-4C3C-B274-DB36FD39EAB3 wds:Q84230483-AEF2AF2D-DB34-4574-A09F-FB385FFE51B7 wds:Q84230483-B7463DD6-FCC2-470B-A1A3-5284AB558477 wds:Q84230483-BC491297-73D1-44A4-A0F3-A220BBFECB36 wds:Q84230483-C2BEAAAD-C5C5-4966-95AF-3621BBBE7119 wds:Q84230483-DE8823E7-9899-4378-A022-258A704A0789 wds:Q84230483-DEA02C9B-65ED-41D7-99A0-6B6B808FAB0F wds:Q84230483-F76489F9-BDF9-4AE2-9C2D-48B0A64DFA06 wds:Q84230483-FE0A3AB0-7732-4507-B8B1-6F2F709F9A1A
cites work	Developing a systematic approach to the diagnosis and classification of mitochondrial disease Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Diagnostic criteria for respiratory chain disorders in adults and children. Mitochondrial disease criteria: Diagnostic applications in children Mitochondrial disorders A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Mitochondrial DNA mutations in human disease. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome Human mitochondrial transfer RNAs: role of pathogenic mutation in disease A functionally dominant mitochondrial DNA mutation Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation Mitochondrial tRNA mutations: clinical and functional perturbations A novel mtDNA point mutation in maternally inherited cardiomyopathy Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency Mitochondrial disorder associated with newborn cardiopulmonary arrest Neuroimaging of mitochondrial disease. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy. Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders. Peripheral neuropathy in genetic mitochondrial diseases.
author name string	wds:Q84230483-0400F9F3-A6DB-4D4C-90B5-5D6DCB6833CB wds:Q84230483-05D0E690-8204-4F78-83B4-5D7DEBC7B73F wds:Q84230483-0DECD3F8-313D-4E31-9488-03171A81EF4B wds:Q84230483-14C85118-1C9D-4C01-BA79-1B1F8B3A6E1B wds:Q84230483-80FE7636-E649-4815-9149-249346AD1D60 wds:Q84230483-821CEDA9-B7E0-4E4A-AC44-D1C878422AF5 wds:Q84230483-93CE0465-63FF-4F00-92A8-D4385AE46813 wds:Q84230483-A5BFC1CF-D00D-4760-A5F2-FE816B911701 wds:Q84230483-A666217C-4FFA-4C19-98B3-602CDAA13A5B wds:Q84230483-A970B0EC-8858-4195-B4BA-90ECB3ABDBDC wds:Q84230483-D1712894-6DD1-4FAC-A9BF-11A73B08B3CE wds:Q84230483-D347342D-DBD1-4688-B01B-147139763DAD wds:Q84230483-FE94E63C-0EEA-4EEE-BD74-2A5A46B762F2
author name string	Paz Briones Angels Garcia-Cazorla Eduardo Ruiz-Pesini Ester López-Gallardo Julio Montoya Rafael Artuch Cristina Jou Mercè Pineda Raquel Montero Sonia Emperador Nuria Buján Diana Gonzaga María del Mar O'Callaghan
rdfs:label	New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (en) New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (nl)
skos:prefLabel	New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (en) New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (nl)
name	New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (en) New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (nl)
author	wds:Q84230483-BD0DB65C-946F-422E-8898-AC1ADE70790F
author	Isidro Ferrer
title	wds:Q84230483-36E9FFA1-B41B-43AD-AEC5-FDFB78F2C3AA
title	New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (en)
page(s)	wds:Q84230483-46840251-ACEB-48EB-8891-C317CF98A564
page(s)	245-250
instance of	wds:Q84230483-F8D61BF1-CCD4-4079-A8CC-53E4D0DFAE12
instance of	scholarly article
PubMed ID	wds:Q84230483-BB0DC1F2-2601-4708-B388-8A008E056264

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