Susan J Hayflick

Susan J Hayflick

UNVERIFIED PROFILE

Are you Susan J Hayflick?   Register this Author

Register author
Susan J Hayflick

Susan J Hayflick

Publications by authors named "Susan J Hayflick"

Are you Susan J Hayflick?   Register this Author

52Publications

1175Reads

20Profile Views

Neurodegeneration with brain iron accumulation.

Handb Clin Neurol 2018 ;147:293-305

Departments of Molecular and Medical Genetics and Neurology, Oregon Health and Science University, Portland, OR, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-63233-3.00019-1DOI Listing
July 2018

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Mol Genet Metab 2018 06 6;124(2):161-167. Epub 2018 Apr 6.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192183004
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976541PMC
June 2018

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Mol Genet Metab 2017 03 27;120(3):278-287. Epub 2016 Dec 27.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA; Department of Neurology, Oregon Health & Science University, Portland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.11.004DOI Listing
March 2017

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.

Annu Rev Genomics Hum Genet 2015 8;16:257-79. Epub 2015 May 8.

Molecular Neurosciences, Developmental Neurosciences Programme, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; email: ,

View Article

Download full-text PDF

Source
http://www.annualreviews.org/doi/10.1146/annurev-genom-09031
Publisher Site
http://dx.doi.org/10.1146/annurev-genom-090314-025011DOI Listing
May 2016

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Int Rev Neurobiol 2013 ;110:49-71

Neurosciences Unit, UCL-Institute of Child Health, London, United Kingdom; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-12-410502-7.00003-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059649PMC
July 2014

BPAN: the only X-linked dominant NBIA disorder.

Int Rev Neurobiol 2013 ;110:85-90

Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-12-410502-7.00005-3DOI Listing
July 2014

Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration.

Mol Genet Metab 2013 Nov 1;110(3):336-41. Epub 2013 Jul 1.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059611PMC
November 2013

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.

Mov Disord 2013 Sep 13;28(10):1462-3. Epub 2013 Mar 13.

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25410DOI Listing
September 2013

Microenvironmental regulation by fibrillin-1.

PLoS Genet 2012 Jan 5;8(1):e1002425. Epub 2012 Jan 5.

Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1002425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3252277PMC
January 2012

Genetics of neurodegeneration with brain iron accumulation.

Curr Neurol Neurosci Rep 2011 Jun;11(3):254-61

Department of Molecular & Medical Genetics, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Mailcode L103, Portland, OR 97239-3098, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11910-011-0181-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908240PMC
June 2011

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

Brain 2011 Apr;134(Pt 4):947-58

Division of Developmental Paediatrics, Child Development and Rehabilitation Centre, Oregon Health and Science University, Portland, OR 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awr042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105492PMC
April 2011

Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse.

Mol Genet Metab 2010 Oct-Nov;101(2-3):292-5. Epub 2010 Aug 4.

Molecular and Medical Genetics, Oregon Health & Science University, Portland OR, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2951883PMC
January 2011

Characterization of the human PANK2 promoter.

Gene 2010 Oct 11;465(1-2):53-60. Epub 2010 Jul 11.

Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2010.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949354PMC
October 2010

Dystonia-parkinsonism disease gene discovery: expect surprises.

Authors:
Susan J Hayflick

Ann Neurol 2009 Jan;65(1):2-3

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21609DOI Listing
January 2009

Neurodegeneration with brain iron accumulation: from genes to pathogenesis.

Authors:
Susan J Hayflick

Semin Pediatr Neurol 2006 Sep;13(3):182-5

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.spen.2006.08.007DOI Listing
September 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):671-2

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):672

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):673

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):678

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):679

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
July 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):679

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
July 2006

Neurodegeneration with brain iron accumulation.

Folia Neuropathol 2005 ;43(4):286-96

Department of Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd L103A, Portland, Oregon 97239, USA.

View Article

Download full-text PDF

Source
https://www.orpha.net/data/patho/GB/uk-NBIA.pdf
Web Search
http://www.termedia.pl/Journal/-20/pdf-5372-1?filename=Neuro
Web Search
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2117327PMC
April 2006

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.

Hum Mol Genet 2005 Jan 3;14(1):49-57. Epub 2004 Nov 3.

Department of Medicine, University of California, San Francisco, CA 94143, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddi005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2117329PMC
January 2005

Postmortem molecular screening in unexplained sudden death.

J Am Coll Cardiol 2004 May;43(9):1625-9

Division of Cardiology, Oregon Health and Science University, Portland, 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2003.11.052DOI Listing
May 2004

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.

Ann N Y Acad Sci 2004 Mar;1012:282-98

Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1196/annals.1306.023DOI Listing
March 2004

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.

Mov Disord 2004 Jan;19(1):36-42

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.10650DOI Listing
January 2004

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.

Authors:
Susan J Hayflick

Curr Opin Pediatr 2003 Dec;15(6):572-7

Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon 97239,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00008480-200312000-00005DOI Listing
December 2003

Progressive dystonia in a 12-year-old boy.

Eur J Paediatr Neurol 2003 ;7(2):85-8

Department of Paediatrics and Paediatric Neurology, University of Essen, Germany.

View Article

Download full-text PDF

Source
July 2003

Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

Authors:
Susan J Hayflick

J Neurol Sci 2003 Mar;207(1-2):106-7

Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health Sciences University, L103a, 3181 SW Sam Jackson Park Road, Portland 97201, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0022-510x(02)00433-1DOI Listing
March 2003

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

N Engl J Med 2003 Jan;348(1):33-40

Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR 97201-3098, USA.

View Article

Download full-text PDF

Source
http://www.ohsu.edu/xd/research/clinical-research/hgi/consor
Web Search
http://www.nejm.org/doi/abs/10.1056/NEJMoa020817
Publisher Site
http://dx.doi.org/10.1056/NEJMoa020817DOI Listing
January 2003

Will the learners be learned?

Genet Med 2002 Mar-Apr;4(2):43-4

View Article

Download full-text PDF

Source
http://dx.doi.org/10.109700125817-200203000-00001DOI Listing
June 2002