189th ENMC international workshop complex I deficiency: Diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 23, Issue 6, 2013, Pages 506-515

  Rahman, Shamima ^a,b   Thorburn, David R ^c,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BEZAFIBRATE; FLAVINE MONONUCLEOTIDE; MITOCHONDRIAL DNA; NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; UBIQUINOL CYTOCHROME C REDUCTASE;

ANALYTIC METHOD; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLUE NATIVE GEL ELECTROPHORESIS; CELL LINE; CLINICAL FEATURE; CLINICAL OBSERVATION; COMPLEX I DEFICIENCY; CONSENSUS DEVELOPMENT; DISEASE MODEL; DRUG MEGADOSE; ELECTRON TRANSPORT; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME ISOLATION; ENZYME STRUCTURE; ENZYME SUBUNIT; ENZYME SYNTHESIS; EXOME; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LABORATORY TEST; LEIGH DISEASE; MICROSCALE OXYGRAPHY; MITOCHONDRIAL GENOME; NETHERLANDS; NONHUMAN; OXYGEN CONSUMPTION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN INTERACTION; RESPIRATORY CHAIN; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTROPHOTOMETRY; THERMUS THERMOPHILUS; TRANSGENIC MOUSE; TREATMENT RESPONSE; X CHROMOSOME LINKED DISORDER; X RAY CRYSTALLOGRAPHY;

ANIMALS; DISEASE MODELS, ANIMAL; DNA, MITOCHONDRIAL; EDUCATION; ELECTRON TRANSPORT COMPLEX I; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; NETHERLANDS;

EID: 84878626198     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.03.004     Document Type: Article

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