Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Emanuele BarcaYuelin LongVictoria CooleyRobert SchoenakerValentina EmmanueleSalvatore DiMauroBruce H CohenAmel KaraaGeorgirene D VladutiuRichard HaasJohan L K Van HoveFernando ScagliaSumit ParikhJirair K BedoyanSusanne D DeBrosseRalitza H GavrilovaRussell P SanetoGregory M EnnsPeter W StacpooleJaya GaneshAustin LarsonZarazuela Zolkipli-CunninghamMarni J FalkAmy C GoldsteinMark TarnopolskyAndrea GropmanKathryn CampDanuta KrotoskiKristin EngelstadXiomara Q RosalesJoshua KrigerJohnston GrierRichard BuchsbaumJohn L P ThompsonMichio Hirano

Published in: Neurology. Genetics (2020)

The NAMDC Registry data confirm the high variability of clinical, biochemical, and genetic features of participants with MtDs. This study serves as an important resource for future enhancement of MtD research and clinical care by providing the first comprehensive description of participant with MtD in North America.

Keyphrases

healthcare
oxidative stress
genome wide
gene expression
current status
machine learning
quality improvement
dna methylation
deep learning
data analysis
affordable care act