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Items: 1 to 50 of 117

1.

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Kasapkara ÇS, Tümer L, Gregory A, Ezgü F, İnci A, Derinkuyu BE, Fox R, Rogers C, Hayflick S.

Acta Neurol Belg. 2018 Oct 8. doi: 10.1007/s13760-018-1026-5. [Epub ahead of print] No abstract available.

PMID:
30298423
2.

Fatty Acid Hydroxylase-Associated Neurodegeneration.

Gregory A, Venkateswaran S, Hayflick SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 Jun 28 [updated 2018 Sep 27].

3.

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

Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB.

Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6.

PMID:
29685658
4.

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

Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W.

Hum Genet. 2018 Mar;137(3):257-264. doi: 10.1007/s00439-018-1877-0. Epub 2018 Mar 19.

PMID:
29556724
5.

Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration.

Lee JH, Gregory A, Hogarth P, Rogers C, Hayflick SJ.

AJNR Am J Neuroradiol. 2018 Jan 25. doi: 10.3174/ajnr.A5514. [Epub ahead of print]

PMID:
29371252
6.

Neurodegeneration with brain iron accumulation.

Hayflick SJ, Kurian MA, Hogarth P.

Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Review.

PMID:
29325618
7.

Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.

Di Meo I, Colombelli C, Srinivasan B, de Villiers M, Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, Sibon OCM.

Sci Rep. 2017 Sep 12;7(1):11260. doi: 10.1038/s41598-017-11564-8.

8.

Pantothenate Kinase-Associated Neurodegeneration.

Gregory A, Hayflick SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Aug 13 [updated 2017 Aug 3].

9.

SLC39A14 Deficiency.

Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 May 25.

10.

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

Aoun M, Corsetto PA, Nugue G, Montorfano G, Ciusani E, Crouzier D, Hogarth P, Gregory A, Hayflick S, Zorzi G, Rizzo AM, Tiranti V.

Mol Genet Metab. 2017 Jun;121(2):180-189. doi: 10.1016/j.ymgme.2017.04.006. Epub 2017 Apr 18.

PMID:
28456385
11.

PLA2G6-Associated Neurodegeneration.

Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Jun 19 [updated 2017 Mar 23].

12.

Beta-Propeller Protein-Associated Neurodegeneration.

Gregory A, Kurian MA, Haack T, Hayflick SJ, Hogarth P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Feb 16.

13.

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

Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ.

Mol Genet Metab. 2017 Mar;120(3):278-287. doi: 10.1016/j.ymgme.2016.11.004. Epub 2016 Dec 27. No abstract available.

PMID:
28034613
14.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

15.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

16.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW.

Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.

17.

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.

Woltjer RL, Reese LC, Richardson BE, Tran H, Green S, Pham T, Chalupsky M, Gabriel I, Light T, Sanford L, Jeong SY, Hamada J, Schwanemann LK, Rogers C, Gregory A, Hogarth P, Hayflick SJ.

Mol Genet Metab. 2015 Dec;116(4):289-97. doi: 10.1016/j.ymgme.2015.10.012. Epub 2015 Oct 31.

18.

Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.

Srinivasan B, Baratashvili M, van der Zwaag M, Kanon B, Colombelli C, Lambrechts RA, Schaap O, Nollen EA, Podgoršek A, Kosec G, Petković H, Hayflick S, Tiranti V, Reijngoud DJ, Grzeschik NA, Sibon OC.

Nat Chem Biol. 2015 Oct;11(10):784-92. doi: 10.1038/nchembio.1906. Epub 2015 Aug 31.

PMID:
26322826
19.

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

Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S.

Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

20.

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

Meyer E, Kurian MA, Hayflick SJ.

Annu Rev Genomics Hum Genet. 2015;16:257-79. doi: 10.1146/annurev-genom-090314-025011. Epub 2015 May 8. Review.

PMID:
25973518
21.

WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.

Crisp SJ, Meyer E, Gregory A, Archer H, Hayflick S, Kurian MA, de Silva R.

Mov Disord Clin Pract. 2015 Feb 24;2(1):81-83. doi: 10.1002/mdc3.12120. eCollection 2015 Mar. No abstract available.

22.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ.

Am J Hum Genet. 2014 Dec 4;95(6):729-35. doi: 10.1016/j.ajhg.2014.10.015. Epub 2014 Nov 26.

23.

Defective pantothenate metabolism and neurodegeneration.

Hayflick SJ.

Biochem Soc Trans. 2014 Aug;42(4):1063-8. doi: 10.1042/BST20140098. Review.

24.

Neurodegeneration with Brain Iron Accumulation Disorders Overview.

Gregory A, Hayflick S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2013 Feb 28.

25.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA.

Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.

26.

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.

Gautschi M, Merlini L, Calza AM, Hayflick S, Nuoffer JM, Fluss J.

Eur J Paediatr Neurol. 2014 Jul;18(4):516-9. doi: 10.1016/j.ejpn.2014.02.005. Epub 2014 Feb 25.

PMID:
24636010
27.

Mitochondrial Membrane Protein-Associated Neurodegeneration.

Gregory A, Hartig M, Prokisch H, Kmiec T, Hogarth P, Hayflick SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2014 Feb 27.

28.

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V.

Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19.

29.

BPAN: the only X-linked dominant NBIA disorder.

Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ.

Int Rev Neurobiol. 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. Review.

PMID:
24209435
31.

Alterations of red cell membrane properties in neuroacanthocytosis.

Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U.

PLoS One. 2013 Oct 3;8(10):e76715. doi: 10.1371/journal.pone.0076715. eCollection 2013.

32.

Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation.

Marshall LM, Carlson EJ, O'Malley J, Snyder CK, Charbonneau NL, Hayflick SJ, Coselli JS, Lemaire SA, Sakai LY.

Circ Res. 2013 Oct 25;113(10):1159-68. doi: 10.1161/CIRCRESAHA.113.301498. Epub 2013 Sep 13.

PMID:
24036495
33.

Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration.

Williams S, Gregory A, Hogarth P, Hayflick SJ, Gillingham MB.

Mol Genet Metab. 2013 Nov;110(3):336-41. doi: 10.1016/j.ymgme.2013.06.017. Epub 2013 Jul 1.

34.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.

Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.

35.

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

Kaul B, Goyal V, Shukla G, Srivastava A, Garg A, Bader B, Danek A, Hayflick S, Behari M.

Neurol India. 2013 Mar-Apr;61(2):169-70. doi: 10.4103/0028-3886.111129. No abstract available.

36.

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

Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ.

Mov Disord. 2013 Sep;28(10):1462-3. doi: 10.1002/mds.25410. Epub 2013 Mar 13. No abstract available.

PMID:
23494994
37.

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

Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ.

Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26.

38.

Imaging striatal dopaminergic function in phospholipase A2 group VI-related parkinsonism.

Agarwal P, Hogarth P, Hayflick S, MacLeod P, Kuriakose R, McKenzie J, Heffernan N, Dinelle K, Sossi V, Stoessl AJ.

Mov Disord. 2012 Nov;27(13):1698-9. doi: 10.1002/mds.25160. No abstract available.

PMID:
23192926
39.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ.

Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.

40.

Copy number variation analysis in 98 individuals with PHACE syndrome.

Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U.

J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25.

41.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V.

Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13.

42.

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.

Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H.

Neurosci Lett. 2012 Aug 8;523(1):35-8. doi: 10.1016/j.neulet.2012.06.036. Epub 2012 Jun 25.

43.

Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.

Prohaska R, Sibon OC, Rudnicki DD, Danek A, Hayflick SJ, Verhaag EM, Vonk JJ, Margolis RL, Walker RH.

Neurobiol Dis. 2012 Jun;46(3):607-24. doi: 10.1016/j.nbd.2012.03.006. Epub 2012 Mar 9. Review.

44.

Microenvironmental regulation by fibrillin-1.

Sengle G, Tsutsui K, Keene DR, Tufa SF, Carlson EJ, Charbonneau NL, Ono RN, Sasaki T, Wirtz MK, Samples JR, Fessler LI, Fessler JH, Sekiguchi K, Hayflick SJ, Sakai LY.

PLoS Genet. 2012 Jan;8(1):e1002425. doi: 10.1371/journal.pgen.1002425. Epub 2012 Jan 5.

45.

As iron goes, so goes disease?

Hayflick SJ, Hogarth P.

Haematologica. 2011 Nov;96(11):1571-2. doi: 10.3324/haematol.2011.055335. No abstract available.

46.

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

Siudeja K, Srinivasan B, Xu L, Rana A, de Jong J, Nollen EA, Jackowski S, Sanford L, Hayflick S, Sibon OC.

EMBO Mol Med. 2011 Dec;3(12):755-66. doi: 10.1002/emmm.201100180. Epub 2011 Oct 14.

47.

Neuroimaging features of neurodegeneration with brain iron accumulation.

Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ.

AJNR Am J Neuroradiol. 2012 Mar;33(3):407-14. doi: 10.3174/ajnr.A2677. Epub 2011 Sep 15. Review.

48.

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

Kruer MC, Hiken M, Gregory A, Malandrini A, Clark D, Hogarth P, Grafe M, Hayflick SJ, Woltjer RL.

Brain. 2011 Apr;134(Pt 4):947-58. doi: 10.1093/brain/awr042.

49.

Genetics of neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ.

Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61. doi: 10.1007/s11910-011-0181-3. Review.

50.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ.

Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122.

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