PMC Links for Books (Select 2506988) - PMC

Select item 79649411.

Deferiprone Reduces Hemosiderin Deposits in the Brain of a Patient with Superficial Siderosis

M. Levy, R.H. Llinas

AJNR Am J Neuroradiol. 2011 Jan; 32(1): E1–E2. doi: 10.3174/ajnr.A2331

PMCID:: PMC7964941

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 49400694.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Anne S. Soehn, Tim W. Rattay, Stefanie Beck-Wödl, Karin Schäferhoff, David Monk, Marion Döbler-Neumann, Konstanze Hörtnagel, Agatha Schlüter, Montserrat Ruiz, Aurora Pujol, Stephan Züchner, Olaf Riess, Rebecca Schüle, Peter Bauer, Ludger Schöls

Neurology. 2016 Jul 12; 87(2): 186–191. doi: 10.1212/WNL.0000000000002843

PMCID:: PMC4940069

Abstract Article PDF–760K

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 43904576.

Case Definition and Classification of Leukodystrophies and Leukoencephalopathies

Adeline Vanderver, Morgan Prust, Davide Tonduti, Fanny Mochel, Heather M. Hussey, Guy Helman, James Garbern, Florian Eichler, Pierre Labauge, Patrick Aubourg, Diana Rodriguez, Marc C. Patterson, Johan L.K. Van Hove, Johanna Schmidt, Nicole I. Wolf, Odile Boespflug-Tanguy, Raphael Schiffmann, Marjo S. van der Knaap

Mol Genet Metab. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Mol Genet Metab. 2015 Apr; 114(4): 494–500. Published online 2015 Jan 29. doi: 10.1016/j.ymgme.2015.01.006

PMCID:: PMC4390457

Abstract Article PDF–196K

Select item 33068657.

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