PMC Links for Nucleotide (Select 544711210) - PMC

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Items: 3

Select item 31888371.

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika B. Hartig, Arcangela Iuso, Tobias Haack, Tomasz Kmiec, Elzbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Malgorzata Krajewska-Walasek, Sergiusz Jozwiak, Maja Hempel, Juliane Winkelmann, Matthias Elstner, Konrad Oexle, Thomas Klopstock, Wolfgang Mueller-Felber, Thomas Gasser, Claudia Trenkwalder, Valeria Tiranti, Hans Kretzschmar, Gerd Schmitz, Tim M. Strom, Thomas Meitinger, Holger Prokisch

Am J Hum Genet. 2011 Oct 7; 89(4): 543–550. doi: 10.1016/j.ajhg.2011.09.007

PMCID:: PMC3188837

Abstract Article PDF–899K

Select item 28911342.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

K.G. Meilleur, M. Traoré, M. Sangaré, A. Britton, G. Landouré, S. Coulibaly, B. Niaré, F. Mochel, A. La Pean, I. Rafferty, C. Watts, M. T. Littleton-Kearney, C. Blackstone, A. Singleton, K.H. Fischbeck

Neurogenetics. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Neurogenetics. 2010 Jul; 11(3): 313–318. Published online 2009 Dec 29. doi: 10.1007/s10048-009-0230-0

PMCID:: PMC2891134

Abstract Article PDF–1.4M

Select item 66251303.

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander R. Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick

Mol Genet Genomic Med. 2019 Jul; 7(7): e00736. Published online 2019 May 13. doi: 10.1002/mgg3.736