GlobalView

Christodoulou, John.

Showing items 1 - 3 of 3.

Add to Quick Collection   All 3 Results

  • First
  • Previous
  • 1
  • Next
  • Last
Sort:
  Add All Items to Quick Collection
Add  Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression
Authors: Tucker, Elena J. | Wanschers, Bas F. J. | Szklarczyk, Radek. | Mountford, Hayley S. | Wijeyeratne, Xiaonan W. | van den Brand, Mariël A. M. | Leenders, Anne M. | Rodenburg, Richard J. | Reljić, Boris. | Compton, Alison G. | Frazier, Ann E. | Bruno, Damien L. | Christodoulou, John. | Endo, Hitoshi. | Ryan, Michael T. | Nijtmans, Leo G. | Huynen, Martijn A. | Thorburn, David R.
Date: 2013
Language: en
Type: journal article
Identifier: http://hdl.handle.net/1959.9/443917
Description: DEST category:C1 - Journal Articles - Refereed article
Full Text: Full Text
Add  Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome.
Authors: Riley, Lisa G. | Cooper, Sandra. | Hickey, Peter. | Rudinger-Thirion, Joelle. | McKenzie, Matthew. | Crompton, Alison. | Lim, Sze Chern. | Thornburn, David. | Ryan, Michael T. | Giege, Richard. | Bahlo, Melanie. | Christodoulou, John.
Date: 2010.
Subject: 0601 (four-digit-FOR)
Language: en
Type: journal article
Identifier: http://hdl.handle.net/1959.9/371232
Description: DEST collection year : 2011
Add  Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Authors: Sugiana, Canny. | Pagliarini, David J. | McKenzie, Matthew. | Denise M, Kirby. | Salemi, R. | Abu-Amero, Khaled K. | Dahl, Hans-Henrik M. | Hutchison, Wendy M. | Vascotto, Katherine A. | Smith, Stacey M. | Newbold, Robert F. | Christodoulou, John. | Calvo, Sarah. | Mootha, Vamsi K. | Ryan, Michael Thomas. | Thornburn, D.
Date: 2008.
Subject: 060400 Genetics | 0604 (four-digit-FOR)
Language: en
Type: journal article
Identifier: http://hdl.handle.net/1959.9/415743
Description: DEST collection year : 2009
  • First
  • Previous
  • 1
  • Next
  • Last