PMC Links for Books (Select 1460540) - PMC

Select item 104245001.

Protean Phenotypic Features of the A3243G Mitochondrial DNA Mutation

Petra Kaufmann, Kristin Engelstad, Ying Wei, Romana Kulikova, Maryam Oskoui, Vanessa Battista, Dorcas Y. Koenigsberger, Juan M. Pascual, Mary Sano, Michio Hirano, Salvatore DiMauro, Dikoma C. Shungu, Xiangling Mao, Darryl C. De Vivo

Arch Neurol. Author manuscript; available in PMC 2023 Aug 14.

Published in final edited form as: Arch Neurol. 2009 Jan; 66(1): 85–91. doi: 10.1001/archneurol.2008.526

PMCID:: PMC10424500

Abstract Article PDF–373K

Select item 79751702.

Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects

Fernando Scaglia, Lee-Jun C. Wong, Georgirene D. Vladutiu, Jill V. Hunter

AJNR Am J Neuroradiol. 2005 Aug; 26(7): 1675–1680.

Correction in:: AJNR Am J Neuroradiol. 2005 Sep; 26(8): 2165.

PMCID:: PMC7975170

Abstract Article PDF–173K

Select item 78042173.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

Genet Med. Author manuscript; available in PMC 2021 Jan 13.

Published in final edited form as: Genet Med. 2017 Dec; 19(12): 10.1038/gim.2017.107. Published online 2017 Jul 27. doi: 10.1038/gim.2017.107

PMCID:: PMC7804217

Abstract Article PDF–495K

Select item 37194254.

Targeted exome sequencing of suspected mitochondrial disorders

Daniel S. Lieber, Sarah E. Calvo, Kristy Shanahan, Nancy G. Slate, Shangtao Liu, Steven G. Hershman, Nina B. Gold, Brad A. Chapman, David R. Thorburn, Gerard T. Berry, Jeremy D. Schmahmann, Mark L. Borowsky, David M. Mueller, Katherine B. Sims, Vamsi K. Mootha

Neurology. 2013 May 7; 80(19): 1762–1770. doi: 10.1212/WNL.0b013e3182918c40