PMC Links for Books (Select 4382412) - 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

Article PDF–1.7M

Select item 59082402.

Genetics of Neurodegeneration with Brain Iron Accumulation

Allison Gregory, Susan J. Hayflick

Curr Neurol Neurosci Rep. Author manuscript; available in PMC 2018 Apr 19.

Published in final edited form as: Curr Neurol Neurosci Rep. 2011 Jun; 11(3): 254–261. doi: 10.1007/s11910-011-0181-3

PMCID:: PMC5908240

Article PDF–77K

Select item 50708933.

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

Article PDF–1.0M

Select item 49298784.

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Affef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard

Eur J Hum Genet. 2016 Apr; 24(4): 615–618. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.159

PMCID:: PMC4929878

Article PDF–957K

Select item 44866895.

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

R. Paudel, A. Li, S. Wiethoff, R. Bandopadhyay, K. Bhatia, R. de Silva, H. Houlden, J. L. Holton

Acta Neuropathol Commun. 2015; 3: 39. Published online 2015 Jun 30. doi: 10.1186/s40478-015-0221-3

PMCID:: PMC4486689

Article PDF–2.0M

Select item 42987136.

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management

Penelope Hogarth

J Mov Disord. 2015 Jan; 8(1): 1–13. Published online 2015 Jan 13. doi: 10.14802/jmd.14034

PMCID:: PMC4298713

Article PDF–1.1M

Select item 40011817.

Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN)

Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihisa Takiyama

Neurol Clin Pract. 2014 Apr; 4(2): 175–177. doi: 10.1212/01.CPJ.0000437694.17888.9b

PMCID:: PMC4001181

Article PDF–450K

Select item 36734598.

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry H. Houlden, James Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Kenton R. Holden, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Cyril Mignot, Delphine Héron, Dawn E. Saunders, Margaret Kaminska, Jean-Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch, Penelope Hogarth

Brain. 2013 Jun; 136(6): 1708–1717. Published online 2013 May 17. doi: 10.1093/brain/awt095

PMCID:: PMC3673459

Article PDF–810K

Select item 35165939.

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

Article PDF–411K

Select item 344850810.

Autophagy impairment: a crossroad between neurodegeneration and tauopathies

Melissa Nassif, Claudio Hetz

BMC Biol. 2012; 10: 78. Published online 2012 Sep 21. doi: 10.1186/1741-7007-10-78

PMCID:: PMC3448508

Article PDF–838K

Select item 290199811.

Network organization of the human autophagy system

Christian Behrends, Mathew E. Sowa, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nature. 2010 Jul 1; 466(7302): 68–76. Published online 2010 Jun 20. doi: 10.1038/nature09204

PMCID:: PMC2901998

Article PDF–1.4M

Select item 267555812.

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

A Gregory, B J Polster, S J Hayflick

J Med Genet. Author manuscript; available in PMC 2009 Apr 30.

Published in final edited form as: J Med Genet. 2009 Feb; 46(2): 73–80. Published online 2008 Nov 3. doi: 10.1136/jmg.2008.061929

PMCID:: PMC2675558

Article PDF–502K

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