PMC Links for OMIM (Select 611026) - PMC

Select item 66712231.

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

Inge Zöller, Marion Meixner, Dieter Hartmann, Heinrich Büssow, Rainer Meyer, Volkmar Gieselmann, Matthias Eckhardt

J Neurosci. 2008 Sep 24; 28(39): 9741–9754. doi: 10.1523/JNEUROSCI.0458-08.2008

PMCID:: PMC6671223

Abstract Article PDF–1.2M

Select item 60596122.

Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick

Ann Neurol. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 611–618. doi: 10.1002/ana.22122

PMCID:: PMC6059612

Abstract Article PDF–643K

Select item 50307673.

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Sandra Donkervoort, Jahannaz Dastgir, Ying Hu, Wadih Zein, Harold Marks, Craig Blackstone, Carsten G. Bönnemann

Clin Genet. Author manuscript; available in PMC 2016 Sep 21.

Published in final edited form as: Clin Genet. 2014 Apr; 85(4): 393–395. Published online 2013 Jun 10. doi: 10.1111/cge.12185

PMCID:: PMC5030767

Article PDF–223K

Select item 33068654.

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Tyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, David A Adams, Thomas Markello, Gretchen Golas, Karin Fuentes-Fajardo, Nancy F Hansen, Praveen F Cherukuri, Pedro Cruz, James C Mullikin for the NISC Comparative Sequencing Program, Craig Blackstone, Cynthia Tifft, Cornelius F Boerkoel, William A Gahl

Eur J Hum Genet. 2012 Apr; 20(4): 476–479. Published online 2011 Dec 7. doi: 10.1038/ejhg.2011.222

PMCID:: PMC3306865

Abstract Article PDF–266K

Select item 26680275.

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, Ilana Taustein, Ann Saada, Orly Elpeleg

Am J Hum Genet. 2008 Nov 17; 83(5): 643–648. doi: 10.1016/j.ajhg.2008.10.010

PMCID:: PMC2668027

Abstract Article PDF–442K

Select item 11867136.

A mammalian fatty acid hydroxylase responsible for the formation of α-hydroxylated galactosylceramide in myelin

Matthias Eckhardt, Afshin Yaghootfam, Simon N. Fewou, Inge Zöller, Volkmar Gieselmann

Biochem J. 2005 May 15; 388(Pt 1): 245–254. Prepublished online 2005 Jan 20. Published online 2005 May 10. doi: 10.1042/BJ20041451

PMCID:: PMC1186713

Abstract Article PDF–857K

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