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Items: 3

Select item 62444121.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Tessa van Dijk, Sacha Ferdinandusse, Jos P. N. Ruiter, Mariëlle Alders, Inge B. Mathijssen, Jillian S. Parboosingh, A. Micheil Innes, Hanne Meijers-Heijboer, Bwee Tien Poll-The, Francois P. Bernier, Ronald J. A. Wanders, Ryan E. Lamont, Frank Baas

Eur J Hum Genet. 2018 Dec; 26(12): 1752–1758. Published online 2018 Aug 8. doi: 10.1038/s41431-018-0233-0

PMCID:: PMC6244412

Abstract Article PDF–1.2M

Select item 38829052.

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, Paola Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan Hayflick, Ivan Gout, Valeria Tiranti

Am J Hum Genet. 2014 Jan 2; 94(1): 11–22. doi: 10.1016/j.ajhg.2013.11.008