PMC Links for Books (Select 3012684) - PMC

Select item 79664451.

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

M.C. Kruer, N. Boddaert, S.A. Schneider, H. Houlden, K.P. Bhatia, A. Gregory, J.C. Anderson, W.D. Rooney, P. Hogarth, S.J. Hayflick

AJNR Am J Neuroradiol. 2012 Mar; 33(3): 407–414. doi: 10.3174/ajnr.A2677

PMCID:: PMC7966445

Abstract Article PDF–1.7M

Select item 66251302.

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

PMCID:: PMC6625130

Abstract Article PDF–904K

Select item 60596123.

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 50708934.

Lessons from a pair of siblings with BPAN

Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer, Michael C Kruer

Eur J Hum Genet. 2016 Jul; 24(7): 1080–1083. Published online 2015 Nov 18. doi: 10.1038/ejhg.2015.242

Correction in:: Eur J Hum Genet. 2016 Jul; 24(7): 1095.

PMCID:: PMC5070893

Abstract Article PDF–1.0M

Select item 47319255.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 38829056.

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, Paola Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan Hayflick, Ivan Gout, Valeria Tiranti

Am J Hum Genet. 2014 Jan 2; 94(1): 11–22. doi: 10.1016/j.ajhg.2013.11.008

PMCID:: PMC3882905

Abstract Article PDF–1.0M

Select item 35891827.

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry-Kravis, Nicola C. Foulds, Simon R. Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay Reese, Randall L. Woltjer, Susan J. Hayflick

Neurology. 2013 Jan 15; 80(3): 268–275. doi: 10.1212/WNL.0b013e31827e07be

PMCID:: PMC3589182

Abstract Article PDF–1.3M

Select item 35165938.

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry H. Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick

Am J Hum Genet. 2012 Dec 7; 91(6): 1144–1149. doi: 10.1016/j.ajhg.2012.10.019

PMCID:: PMC3516593

Abstract Article PDF–411K

Select item 26680279.

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 104905010.

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

N J Woodhouse, N A Sakati

J Med Genet. 1983 Jun; 20(3): 216–219. doi: 10.1136/jmg.20.3.216

PMCID:: PMC1049050

Summary Page Browse PDF–634K

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