Demczko, Matthew M.
https://orcid.org/0000-0003-0232-9611
Mayo Clinic
Children's Hospital of Philadelphia
Citations 2
Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)
Kroopnick, Adam, Houck, Alexander, Thakur, Kiran T. , Dugue, Rachelle , Goldstein, Amy , Gavrilova, Ralitza H. , Hove, Johan Van, Saneto, Russell P. , Buchsbaum, Richard , Thompson, John L.P. , Barca, Emanuele , Zolkipli‐Cunningham, Zarazuela , Falk, Marni J. , Demczko, Matthew M. , Larson, Austin , Hirano, Michio
Neurology | April 9, 2024 | Volume: 102 | Issue: 7_supplement_1 | Pages: No page available
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
Williams, Katie B. , Brigatti, Karlla W. , Puffenberger, Erik G. , Gonzaga‐Jauregui, Claudia , Griffin, Laurie B. , Martinez, Erick D, Wenger, Olivia , Yoder, Mark , Kandula, Vinay , Fox, Michael D. , Demczko, Matthew M. , Poskitt, Laura , Furuya, Katryn N. , Reid, Jeffrey G. , Overton, John D. , Baras, Aris , Miles, Lili, Radhakrishnan, Kadakkal , Carson, Vincent J. , Antonellis, Anthony , Jinks, Robert N., Strauss, Kevin A.
Human Molecular Genetics | October 2, 2018 | Volume: 28 | Issue: 4 | Pages: 525-538