1988
Mitochondrial enzymes in hereditary ataxias
Sheu K, Blass J, Cedarbaum J, Kim Y, Harding B, DeCicco J. Mitochondrial enzymes in hereditary ataxias. Metabolic Brain Disease 1988, 3: 151-160. PMID: 3185426, DOI: 10.1007/bf01001015.Peer-Reviewed Original ResearchConceptsHereditary ataxiasUnselected seriesCross-reacting materialSecondary decreasePatientsMitochondrial abnormalitiesAtaxiaPyruvate dehydrogenase complexMitochondrial damageMitochondrial enzymesPlateletsNormal fibroblastsGlutamate dehydrogenaseHuman brainAtaxyBrainImmunoblotFibroblastsPathophysiologyActivityAbnormalities
1986
Mitochondrial dysfunction and spinocerebellar degenerations
Cedarbaum J, Blass J. Mitochondrial dysfunction and spinocerebellar degenerations. Journal Of Molecular Neuroscience 1986, 4: 43-63. PMID: 3520401, DOI: 10.1007/bf02834298.Peer-Reviewed Original ResearchConceptsSpinocerebellar degenerationProminent clinical featureMitochondrial damageMultiple system degenerationClinical featuresPathophysiological mechanismsOlivopontocerebellar atrophyDiffuse diseaseSystem degenerationNervous systemRelated disordersLong axonsObserved pathologyAtaxiaDegenerationMitochondrial dysfunctionSimplified classificationFriedreich's ataxiaCommon mechanism