The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Authors: Stafki, Seth A., Turner, Johnnie, Littel, Hannah R., Bruels, Christine C., Truong, Don, Knirsch, Ursula, Stettner, Georg M., Graf, Urs, Berger, Wolfgang, Kinali, Maria, Jungbluth, Heinz, Pacak, Christina A., Hughes, Jayne, Mirchi, Amytice, Derksen, Alexa, Vincent-Delorme, Catherine, Theil, Arjan F., Bernard, Geneviève, Ellis, David, Fassihi, Hiva, Lehmann, Alan R., Laugel, Vincent, Mohammed, Shehla, Kang, Peter B.

Source: Pediatric neurology. 141:79-86

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186184044.0x000001&indx=1&recIds=ETOCvdc_100186184044.0x000001

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.

Authors: Turner, Johnnie¹ (AUTHOR), Bruels, Christine C.¹ (AUTHOR), Daugherty, Audrey L.¹ (AUTHOR), Estrella, Elicia A.^2,3 (AUTHOR), Stafki, Seth¹ (AUTHOR), Syeda, Safoora B.⁴ (AUTHOR), Littel, Hannah R.¹ (AUTHOR), Pais, Lynn^3,5 (AUTHOR), Ganesh, Vijay S.^2,5,6,7 (AUTHOR), Lidov, Hart G. W.⁸ (AUTHOR), Paine, Simon M. L.⁹ (AUTHOR), Maddison, Paul¹⁰ (AUTHOR), Harrison, Rachel E.¹¹ (AUTHOR), Straub, Volker¹² (AUTHOR), Ghosh, Partha S.² (AUTHOR), Pacak, Christina A.¹ (AUTHOR), Kunkel, Louis M.³ (AUTHOR), Draper, Isabelle¹³ (AUTHOR), Topf, Ana¹² (AUTHOR), Kang, Peter B.^1,14 (AUTHOR) pkang@umn.edu

Source: Muscle & Nerve. Oct2024, Vol. 70 Issue 4, p843-850. 8p.

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Authors: Gunasekaran, Mekala¹ (AUTHOR), Littel, Hannah R.¹ (AUTHOR), Wells, Natalya M.¹ (AUTHOR), Turner, Johnnie¹ (AUTHOR), Campos, Gloriana¹ (AUTHOR), Venigalla, Sree¹ (AUTHOR), Estrella, Elicia A.² (AUTHOR), Ghosh, Partha S.³ (AUTHOR), Daugherty, Audrey L.¹ (AUTHOR), Stafki, Seth A.¹ (AUTHOR), Kunkel, Louis M.² (AUTHOR), Foley, A. Reghan⁴ (AUTHOR), Donkervoort, Sandra⁴ (AUTHOR), Bönnemann, Carsten G.⁴ (AUTHOR), Toledo‐Bravo de Laguna, Laura⁵ (AUTHOR), Nascimento, Andres^6,7 (AUTHOR), Natera‐de Benito, Daniel^6,7 (AUTHOR), Draper, Isabelle⁸ (AUTHOR), Bruels, Christine C.¹ (AUTHOR), Pacak, Christina A.¹ (AUTHOR) cpacak@umn.edu

Source: FEBS Journal. Jan2025, p1. 16p. 12 Illustrations, 3 Charts.