PMC Links for Books (Select 1460422) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 46881192.

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globuspallidus

Randall L. Woltjer, Lindsay C. Reese, Brian E. Richardson, Huong Tran, Sarah Green, Thao Pham, Megan Chalupsky, Isabella Gabriel, Tyler Light, Lynn Sanford, Suh Y. Jeong, Jeffrey Hamada, Leila K. Schwanemann, Caleb Rogers, Allison Gregory, Penelope Hogarth, Susan J. Hayflick

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

Published in final edited form as: Mol Genet Metab. 2015 Dec; 116(4): 289–297. Published online 2015 Oct 31. doi: 10.1016/j.ymgme.2015.10.012

PMCID:: PMC4688119

Abstract Article PDF–2.1M

Select item 45447533.

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 44110724.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

Jasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer

PLoS One. 2015; 10(4): e0125861. Published online 2015 Apr 27. doi: 10.1371/journal.pone.0125861

PMCID:: PMC4411072

Abstract Article PDF–511K

Select item 43529415.

Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

Pedro J. Garcia-Ruiz, Joaquin Ayerbe, Lydia Vela Desojo, Cici E. Feliz, Javier del Val Fernandez

Case Rep Neurol Med. 2015; 2015: 245735. Published online 2015 Feb 23. doi: 10.1155/2015/245735

PMCID:: PMC4352941

Abstract Article PDF–808K

Select item 35891826.

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 31054927.

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Michael C. Kruer, Mark Hiken, Allison Gregory, Alessandro Malandrini, David Clark, Penny Hogarth, Marjorie Grafe, Susan J. Hayflick, Randall L. Woltjer

Brain. 2011 Apr; 134(4): 947–958. Published online 2011 Mar 31. doi: 10.1093/brain/awr042

PMCID:: PMC3105492

Abstract Article PDF–844K

Select item 21695228.

Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Robert A. Egan, Richard G. Weleber, Penelope Hogarth, Allison Gregory, Jason Coryell, Shawn K. Westaway, Jane Gitschier, Soma Das, Susan J. Hayflick

Am J Ophthalmol. Author manuscript; available in PMC 2007 Dec 31.

Published in final edited form as: Am J Ophthalmol. 2005 Aug; 140(2): 267–274. doi: 10.1016/j.ajo.2005.03.024

PMCID:: PMC2169522

Abstract Article PDF–761K

Select item 21057459.

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

P. Rump, H. H. Lemmink, C. C. Verschuuren-Bemelmans, P. M. Grootscholten, Y. J. Vos, A. J. van Essen, J. M. Fock, S. J. Hayflick, S. K. Westaway

Neurogenetics. Author manuscript; available in PMC 2007 Dec 4.

Published in final edited form as: Neurogenetics. 2005 Dec; 6(4): 201–207. Published online 2005 Oct 21. doi: 10.1007/s10048-005-0018-9

PMCID:: PMC2105745

Abstract Article PDF–902K

Select item 209945910.

Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

K. Freeman, A. Gregory, A. Turner, P. Blasco, P. Hogarth, S. Hayflick

J Intellect Disabil Res. Author manuscript; available in PMC 2007 Nov 29.

Published in final edited form as: J Intellect Disabil Res. 2007 Jun; 51(Pt 6): 417–426. doi: 10.1111/j.1365-2788.2006.00889.x

PMCID:: PMC2099459

Abstract Article PDF–63K

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