PMC Links for Nucleotide (Select 1677498845) - PMC

Select item 51597601.

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

Sonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, Mercedes Pineda, Blanca Felgueroso, Ester López-Gallardo, Rafael Artuch, Iria Roca, Eduardo Ruiz-Pesini, María Luz Couce, Julio Montoya

Eur J Hum Genet. 2017 Jan; 25(1): 153–156. Published online 2016 Sep 28. doi: 10.1038/ejhg.2016.124

PMCID:: PMC5159760

Abstract Article PDF–800K

Select item 44412152.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 41501293.

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

Sofia Ahola, Pirjo Isohanni, Liliya Euro, Virginia Brilhante, Aarno Palotie, Helena Pihko, Tuula Lönnqvist, Tanita Lehtonen, Jukka Laine, Henna Tyynismaa, Anu Suomalainen

Neurology. 2014 Aug 19; 83(8): 743–751. doi: 10.1212/WNL.0000000000000716

PMCID:: PMC4150129

Abstract Article PDF–790K

Select item 16985784.

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Jan A. M. Smeitink, Orly Elpeleg, Hana Antonicka, Heleen Diepstra, Ann Saada, Paulien Smits, Florin Sasarman, Gert Vriend, Jasmine Jacob-Hirsch, Avraham Shaag, Gideon Rechavi, Brigitte Welling, Jürgen Horst, Richard J. Rodenburg, Bert van den Heuvel, Eric A. Shoubridge

Am J Hum Genet. 2006 Nov; 79(5): 869–877. Published online 2006 Sep 15. doi: 10.1086/508434

PMCID:: PMC1698578

Abstract Article PDF–2.3M

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