The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Molecular Genetics and Metabolism

Volumn 94, Issue 1, 2008, Pages 78-82

  Barghuti, Flora ^a   Elian, Khaled ^a   Gomori, John Moshe ^b   Shaag, Avraham ^b   Edvardson, Simon ^b   Saada, Ann ^b   Elpeleg, Orly ^b  

^a Palestinian Authority

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Complex I deficiency; Mitochondrial respiratory chain defect; NDUFA12L

Indexed keywords

PROTEIN NDUFA12L; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BRAIN CORTEX; BRAIN DISEASE; CASE REPORT; CEREBELLUM; COMPLEX I DEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MEDIAL LEMNISCUS; MITOCHONDRION; MUSCLE HYPOTONIA; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; REDUCTION KINETICS; SPINAL CORD COMPRESSION; SUBSTANTIA NIGRA; THALAMOCORTICAL TRACT; THALAMUS; WHITE MATTER;

BRAIN; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL PROTEINS; MOLECULAR CHAPERONES;

EID: 41949112549     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.11.013     Document Type: Article

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