Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1

Neurogenetics

Volumn 12, Issue 1, 2011, Pages 9-17

  Ferreira, Mariana ^a,b   Torraco, Alessandra ^c   Rizza, Teresa ^c   Fattori, Fabiana ^c   Meschini, Maria Chiara ^c   Castana, Cinzia ^d   Go, Nancy E ^e   Nargang, Frank E ^e   Duarte, Margarida ^f   Piemonte, Fiorella ^c   Dionisi Vici, Carlo ^c   Videira, Arnaldo ^b,f   Vilarinho, Laura ^a   Santorelli, Filippo M ^g   Carrozzo, Rosalba ^c   Bertini, Enrico ^c  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d Ospedale dei Bambini G Di Cristina   (Italy)

^e UNIVERSITY OF ALBERTA   (Canada)

^f UNIVERSITY OF PORTO   (Portugal)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Complex I; Lactic acidosis; NDUFS1; Progressive cavitating leukoencephalopathy

Indexed keywords

ALANINE; BACLOFEN; GALACTOSE; LACTIC ACID; PHENOBARBITAL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THIAMINE; THREONINE; UBIDECARENONE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DE LANGE SYNDROME; DISEASE ASSOCIATION; ENCEPHALITIS; ENERGY METABOLISM; ENZYME ACTIVITY; FEMALE; GAIT DISORDER; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LACTIC ACIDEMIA; LEUKOENCEPHALOPATHY; MALE; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUTAGENESIS; NEUROLOGIC EXAMINATION; NEURORADIOLOGY; NEUROSPORA CRASSA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE CAVITATING LEUKOENCEPHALOPATHY; PYRAMIDAL SIGN; SIBLING; SKIN FIBROBLAST; WHITE MATTER;

NEUROSPORA CRASSA;

EID: 79951557486     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0265-2     Document Type: Article

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