Susan Hayflick

Susan Hayflick

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Susan Hayflick

Susan Hayflick

Publications by authors named "Susan Hayflick"

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Cannabis Use in Children With Pantothenate Kinase-Associated Neurodegeneration.

J Child Neurol 2020 Mar 11;35(4):259-264. Epub 2019 Dec 11.

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

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http://dx.doi.org/10.1177/0883073819890516DOI Listing
March 2020

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Acta Neurol Belg 2019 Dec 8;119(4):623-625. Epub 2018 Oct 8.

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

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http://dx.doi.org/10.1007/s13760-018-1026-5DOI Listing
December 2019

CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases.

EMBO Mol Med 2019 12 7;11(12):e10488. Epub 2019 Nov 7.

Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.15252/emmm.201910488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895606PMC
December 2019

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.

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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.

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

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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http://dx.doi.org/10.1007/s00439-018-1877-0DOI Listing
March 2018

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

Mol Genet Metab 2017 06 18;121(2):180-189. Epub 2017 Apr 18.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.006DOI Listing
June 2017

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.

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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: ,

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

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Pediatrics 2015 Sep 3;136(3):e714-7. Epub 2015 Aug 3.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada; and

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2015-0750DOI Listing
September 2015

Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.

Mov Disord Clin Pract 2015 Mar 24;2(1):81-83. Epub 2015 Feb 24.

Department of Neurology Essex Center for Neurological Sciences Queen's Hospital Romford Essex United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353382PMC
March 2015

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:

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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.

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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.

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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.

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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.

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

Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.

EMBO Mol Med 2011 Dec 14;3(12):755-66. Epub 2011 Oct 14.

Department of Cell Biology, Radiation and Stress Cell Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/emmm.201100180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377114PMC
December 2011

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.

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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.

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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.

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

Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.

Brain Res Bull 2010 Nov 9;83(6):374-9. Epub 2010 Sep 9.

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

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http://dx.doi.org/10.1016/j.brainresbull.2010.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975838PMC
November 2010

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.

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

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.

Proc Natl Acad Sci U S A 2010 Apr 29;107(15):6988-93. Epub 2010 Mar 29.

Department of Cell Biology, Radiation and Stress Cell Biology, University Medical Center Groningen, University of Groningen, 9713 AV Groningen, The Netherlands.

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http://www.pnas.org/content/107/15/6988.full.pdf
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http://www.pnas.org/cgi/doi/10.1073/pnas.0912105107
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http://dx.doi.org/10.1073/pnas.0912105107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872433PMC
April 2010

Measurement of brain iron distribution in Hallevorden-Spatz syndrome.

J Magn Reson Imaging 2010 Feb;31(2):482-9

Oregon Health Science University Department of Radiology Portland, Oregon, USA.

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http://dx.doi.org/10.1002/jmri.22031DOI Listing
February 2010

Dystonia-parkinsonism disease gene discovery: expect surprises.

Authors:
Susan J Hayflick

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

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

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

Eur J Paediatr Neurol 2008 Nov 21;12(6):491-500. Epub 2008 Mar 21.

Department of Child Neurology, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal.

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http://dx.doi.org/10.1016/j.ejpn.2008.01.005DOI Listing
November 2008

Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign.

Pediatr Radiol 2006 Dec 5;36(12):1329; author reply 1330. Epub 2006 Oct 5.

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http://dx.doi.org/10.1007/s00247-006-0309-9DOI Listing
December 2006

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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https://www.orpha.net/data/patho/GB/uk-NBIA.pdf
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http://www.termedia.pl/Journal/-20/pdf-5372-1?filename=Neuro
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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.

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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.

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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.

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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.

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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,

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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.

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http://dx.doi.org/10.1016/s1090-3798(03)00019-9DOI Listing
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.

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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.

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

Will the learners be learned?

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

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http://dx.doi.org/10.1097/00125817-200203000-00001DOI Listing
June 2002