PMC Links for GEO Profiles (Select 110361409) - PMC

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Items: 5

Select item 60748601.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

Muhammad Faiyaz-Ul-Haque, Moeenaldeen D. Al-Sayed, Eissa Faqeih, Masood Jamil, Anjum Saeed, Mohamed Saleh Amoudi, Namik Kaya, Halah Abalkhail, Ahmed Al-Abdullatif, Mohamed Rashed, Mohammed Al-Owain, Iskra Peltekova, Syed HE Zaidi

Ann Saudi Med. 2014 Mar-Apr; 34(2): 107–114. doi: 10.5144/0256-4947.2014.107

PMCID:: PMC6074860

Abstract Article PDF–778K

Select item 45149842.

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study

Hongfei Tai, Zaiqiang Zhang

BMC Neurol. 2015; 15: 117. Published online 2015 Jul 25. doi: 10.1186/s12883-015-0369-2

PMCID:: PMC4514984

Abstract Article PDF–1.7M

Select item 43574673.

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

Rim Rzem, Younes Achouri, Etienne Marbaix, Olivier Schakman, Elsa Wiame, Sandrine Marie, Philippe Gailly, Marie-Françoise Vincent, Maria Veiga-da-Cunha, Emile Van Schaftingen

PLoS One. 2015; 10(3): e0119540. Published online 2015 Mar 12. doi: 10.1371/journal.pone.0119540

PMCID:: PMC4357467

Abstract Article PDF–20M

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 27788445.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016