Phenotypic and genotypic variability in Alpers syndrome

European Journal of Paediatric Neurology

Volumn 16, Issue 4, 2012, Pages 379-389

  Sofou, Kalliopi ^a   Moslemi, Ali Reza ^b   Kollberg, Gittan ^b   Bjarnadóttir, Ingibjörg ^a   Oldfors, Anders ^b   Nennesmo, Inger ^c   Holme, Elisabeth ^b   Tulinius, Már ^a   Darin, Niklas ^a  

^a QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Alpers; Mitochondrial encephalomyopathy; mtDNA; OXPHOS; POLG1

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; MITOCHONDRIAL DNA POLYMERASE GAMMA 1; UNCLASSIFIED DRUG;

ALPERS DISEASE; ARTICLE; ATAXIA; BASAL GANGLION; BIOCHEMISTRY; BRAIN CORTEX; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DNA SEQUENCE; EYE DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DIFFERENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LIVER DISEASE; MALE; MICROCEPHALY; MITOCHONDRIAL ENCEPHALOMYOPATHY; MORPHOLOGY; NEWBORN; PEDIATRIC HOSPITAL; PRIORITY JOURNAL; SEIZURE; SPASTICITY; STROKE; THALAMUS; WHITE MATTER;

ADOLESCENT; AGE OF ONSET; BRAIN; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; DATA INTERPRETATION, STATISTICAL; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA; DNA-DIRECTED DNA POLYMERASE; EYE DISEASES; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INTELLECTUAL DISABILITY; LIVER; LIVER DISEASES; MALE; MITOCHONDRIA; MUSCLE, SKELETAL; MUTATION; NEUROIMAGING; OXIDATIVE PHOSPHORYLATION; SEIZURES; SEX CHARACTERISTICS;

EID: 84861998706     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.12.006     Document Type: Article

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