| Year |
Citation |
Score |
| 2024 |
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, et al. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. Annals of Clinical and Translational Neurology. PMID 38750253 DOI: 10.1002/acn3.52079 |
0.348 |
|
| 2023 |
Papandreou A, Singh N, Gianfrancesco L, Budinger D, Barwick K, Agrotis A, Luft C, Shao Y, Lenaerts AS, Gregory A, Jeong SY, Hogarth P, Hayflick S, Barral S, Kriston-Vizi J, et al. Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency. Biorxiv : the Preprint Server For Biology. PMID 37745522 DOI: 10.1101/2023.09.13.556416 |
0.315 |
|
| 2023 |
Hayflick SJ. A Brief History of NBIA Gene Discovery. Journal of Movement Disorders. PMID 37096298 DOI: 10.14802/jmd.23014 |
0.364 |
|
| 2021 |
Spaull RVV, Soo AKS, Hogarth P, Hayflick SJ, Kurian MA. Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation. Tremor and Other Hyperkinetic Movements (New York, N.Y.). 11: 51. PMID 34909266 DOI: 10.5334/tohm.661 |
0.316 |
|
| 2020 |
Lee JH, Yun JY, Gregory A, Hogarth P, Hayflick SJ. Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation. Frontiers in Neurology. 11: 1024. PMID 33013674 DOI: 10.3389/Fneur.2020.01024 |
0.383 |
|
| 2019 |
Lambrechts RA, Schepers H, Yu Y, van der Zwaag M, Autio KJ, Vieira-Lara MA, Bakker BM, Tijssen MA, Hayflick SJ, Grzeschik NA, Sibon OC. CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases. Embo Molecular Medicine. e10488. PMID 31701655 DOI: 10.15252/Emmm.201910488 |
0.348 |
|
| 2019 |
Jeong SY, Hogarth P, Placzek A, Gregory AM, Fox R, Zhen D, Hamada J, van der Zwaag M, Lambrechts R, Jin H, Nilsen A, Cobb J, Pham T, Gray N, Ralle M, ... ... Hayflick SJ, et al. 4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN. Embo Molecular Medicine. e10489. PMID 31660701 DOI: 10.15252/Emmm.201910489 |
0.403 |
|
| 2019 |
Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, ... ... Hayflick SJ, et al. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. The Lancet. Neurology. 18: 631-642. PMID 31202468 DOI: 10.1016/S1474-4422(19)30142-5 |
0.433 |
|
| 2019 |
Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, ... ... Hayflick SJ, et al. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Molecular Genetics & Genomic Medicine. e736. PMID 31087512 DOI: 10.1002/Mgg3.736 |
0.308 |
|
| 2018 |
Kasapkara ÇS, Tümer L, Gregory A, Ezgü F, İnci A, Derinkuyu BE, Fox R, Rogers C, Hayflick S. A new NBIA patient from Turkey with homozygous C19ORF12 mutation. Acta Neurologica Belgica. PMID 30298423 DOI: 10.1007/S13760-018-1026-5 |
0.336 |
|
| 2018 |
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. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Molecular Genetics and Metabolism. PMID 29685658 DOI: 10.1016/J.Ymgme.2018.04.002 |
0.411 |
|
| 2018 |
Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Human Genetics. PMID 29556724 DOI: 10.1007/S00439-018-1877-0 |
0.384 |
|
| 2018 |
Lee JH, Gregory A, Hogarth P, Rogers C, Hayflick SJ. Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration. Ajnr. American Journal of Neuroradiology. PMID 29371252 DOI: 10.3174/Ajnr.A5514 |
0.348 |
|
| 2018 |
Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handbook of Clinical Neurology. 147: 293-305. PMID 29325618 DOI: 10.1016/B978-0-444-63233-3.00019-1 |
0.512 |
|
| 2017 |
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, ... ... Hayflick SJ, et al. Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency. Scientific Reports. 7: 11260. PMID 28900161 DOI: 10.1038/S41598-017-11564-8 |
0.365 |
|
| 2017 |
Aoun M, Corsetto PA, Nugue G, Montorfano G, Ciusani E, Crouzier D, Hogarth P, Gregory A, Hayflick S, Zorzi G, Rizzo AM, Tiranti V. Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN Molecular Genetics and Metabolism. 121: 180-189. PMID 28456385 DOI: 10.1016/J.Ymgme.2017.04.006 |
0.343 |
|
| 2016 |
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, ... ... Hayflick SJ, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature Communications. 7: 11601. PMID 27231142 DOI: 10.1038/Ncomms11601 |
0.399 |
|
| 2015 |
Crisp SJ, Meyer E, Gregory A, Archer H, Hayflick S, Kurian MA, de Silva R. Mutation in Atypical Rett Syndrome with Brain Iron Accumulation. Movement Disorders Clinical Practice. 2: 81-83. PMID 30713886 DOI: 10.1002/Mdc3.12120 |
0.446 |
|
| 2015 |
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, ... ... Hayflick SJ, et al. Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. Molecular Genetics and Metabolism. PMID 26547561 DOI: 10.1016/J.Ymgme.2015.10.012 |
0.391 |
|
| 2015 |
Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S. Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay. Pediatrics. 136: e714-7. PMID 26240209 DOI: 10.1542/Peds.2015-0750 |
0.425 |
|
| 2015 |
Meyer E, Kurian MA, Hayflick SJ. Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. Annual Review of Genomics and Human Genetics. 16: 257-79. PMID 25973518 DOI: 10.1146/Annurev-Genom-090314-025011 |
0.462 |
|
| 2015 |
Klucken A, Jaskolka H, Wood P, Ali N, López A, Nagel A, Scalise N, Schijndel MV, Vasseur J-, Sheppard-Whalen M, Gauzy-Krieger F, Hayflick SJ, Klopstock T. PP15.15 – 2688: NBIA Alliance – The impact of the international NBIA patient advocacy on NBIA research and vice versa European Journal of Paediatric Neurology. 19. DOI: 10.1016/S1090-3798(15)30312-3 |
0.345 |
|
| 2014 |
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, ... ... Hayflick SJ, et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. American Journal of Human Genetics. 95: 729-35. PMID 25434005 DOI: 10.1016/J.Ajhg.2014.10.015 |
0.423 |
|
| 2014 |
Hayflick SJ. Defective pantothenate metabolism and neurodegeneration. Biochemical Society Transactions. 42: 1063-8. PMID 25110003 DOI: 10.1042/Bst20140098 |
0.417 |
|
| 2014 |
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. PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. Molecular Genetics and Metabolism. 112: 183-9. PMID 24745848 DOI: 10.1016/J.Ymgme.2014.03.008 |
0.408 |
|
| 2014 |
Gautschi M, Merlini L, Calza A, Hayflick S, Nuoffer J, Fluss JV. Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin European Journal of Paediatric Neurology. 18: 516-519. PMID 24636010 DOI: 10.1016/J.Ejpn.2014.02.005 |
0.398 |
|
| 2014 |
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, ... ... Hayflick S, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. American Journal of Human Genetics. 94: 11-22. PMID 24360804 DOI: 10.1016/J.Ajhg.2013.11.008 |
0.463 |
|
| 2013 |
Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ. BPAN: the only X-linked dominant NBIA disorder. International Review of Neurobiology. 110: 85-90. PMID 24209435 DOI: 10.1016/B978-0-12-410502-7.00005-3 |
0.43 |
|
| 2013 |
Kurian MA, Hayflick SJ. Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. International Review of Neurobiology. 110: 49-71. PMID 24209433 DOI: 10.1016/B978-0-12-410502-7.00003-X |
0.487 |
|
| 2013 |
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. Alterations of red cell membrane properties in neuroacanthocytosis. Plos One. 8: e76715. PMID 24098554 DOI: 10.1371/Journal.Pone.0076715 |
0.393 |
|
| 2013 |
Williams S, Gregory A, Hogarth P, Hayflick SJ, Gillingham MB. Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration. Molecular Genetics and Metabolism. 110: 336-41. PMID 23891537 DOI: 10.1016/J.Ymgme.2013.06.017 |
0.338 |
|
| 2013 |
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, et al. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain : a Journal of Neurology. 136: 1708-17. PMID 23687123 DOI: 10.1093/Brain/Awt095 |
0.502 |
|
| 2013 |
Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ. Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1462-3. PMID 23494994 DOI: 10.1002/Mds.25410 |
0.452 |
|
| 2013 |
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, ... ... Hayflick SJ, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 80: 268-75. PMID 23269600 DOI: 10.1212/Wnl.0B013E31827E07Be |
0.475 |
|
| 2013 |
Crisp S, Meyer E, Gregory A, Archer H, Hayflick S, Kurian MA, Silva Rd. A Rett-Look-Alike With Brain Iron Accumulation Journal of Neurology, Neurosurgery, and Psychiatry. 84. DOI: 10.1136/Jnnp-2013-306573.38 |
0.491 |
|
| 2012 |
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, ... ... Hayflick SJ, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics. 91: 1144-9. PMID 23176820 DOI: 10.1016/J.Ajhg.2012.10.019 |
0.478 |
|
| 2012 |
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. Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Human Molecular Genetics. 21: 5294-305. PMID 22983956 DOI: 10.1093/Hmg/Dds380 |
0.438 |
|
| 2012 |
Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H. Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters. 523: 35-8. PMID 22743658 DOI: 10.1016/J.Neulet.2012.06.036 |
0.45 |
|
| 2012 |
Prohaska R, Sibon OC, Rudnicki DD, Danek A, Hayflick SJ, Verhaag EM, Vonk JJ, Margolis RL, Walker RH. Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration. Neurobiology of Disease. 46: 607-24. PMID 22426390 DOI: 10.1016/J.Nbd.2012.03.006 |
0.484 |
|
| 2012 |
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. Microenvironmental regulation by fibrillin-1. Plos Genetics. 8: e1002425. PMID 22242013 DOI: 10.1371/Journal.Pgen.1002425 |
0.35 |
|
| 2012 |
Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ. Neuroimaging features of neurodegeneration with brain iron accumulation. Ajnr. American Journal of Neuroradiology. 33: 407-14. PMID 21920862 DOI: 10.3174/Ajnr.A2677 |
0.409 |
|
| 2011 |
Hayflick SJ, Hogarth P. As iron goes, so goes disease? Haematologica. 96: 1571-2. PMID 22058278 DOI: 10.3324/Haematol.2011.055335 |
0.401 |
|
| 2011 |
Kruer MC, Hiken M, Gregory A, Malandrini A, Clark D, Hogarth P, Grafe M, Hayflick SJ, Woltjer RL. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain : a Journal of Neurology. 134: 947-58. PMID 21459825 DOI: 10.1093/Brain/Awr042 |
0.488 |
|
| 2011 |
Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Current Neurology and Neuroscience Reports. 11: 254-61. PMID 21286947 DOI: 10.1007/S11910-011-0181-3 |
0.488 |
|
| 2010 |
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, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Annals of Neurology. 68: 611-8. PMID 20853438 DOI: 10.1002/Ana.22122 |
0.468 |
|
| 2010 |
Polster BJ, Yoon MY, Hayflick SJ. Characterization of the human PANK2 promoter. Gene. 465: 53-60. PMID 20603201 DOI: 10.1016/J.Gene.2010.06.011 |
0.339 |
|
| 2010 |
Rana A, Seinen E, Siudeja K, Muntendam R, Srinivasan B, van der Want JJ, Hayflick S, Reijngoud DJ, Kayser O, Sibon OC. Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 107: 6988-93. PMID 20351285 DOI: 10.1073/Pnas.0912105107 |
0.365 |
|
| 2010 |
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, et al. Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation. Brain : a Journal of Neurology. 133: 701-12. PMID 20207700 DOI: 10.1093/Brain/Awq022 |
0.383 |
|
| 2010 |
Szumowski J, Bas E, Gaarder K, Schwarz E, Erdogmus D, Hayflick S. Measurement of brain iron distribution in Hallevorden-Spatz syndrome. Journal of Magnetic Resonance Imaging : Jmri. 31: 482-9. PMID 20099363 DOI: 10.1002/Jmri.22031 |
0.329 |
|
| 2008 |
Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation Journal of Medical Genetics. 46: 73-80. PMID 18981035 DOI: 10.1136/Jmg.2008.061929 |
0.49 |
|
| 2008 |
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, ... ... Hayflick SJ, et al. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71: 1402-9. PMID 18799783 DOI: 10.1212/01.Wnl.0000327094.67726.28 |
0.461 |
|
| 2008 |
McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70: 1614-9. PMID 18443312 DOI: 10.1212/01.Wnl.0000310985.40011.D6 |
0.501 |
|
| 2008 |
Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C. Infantile neuroaxonal dystrophy: what's most important for the diagnosis? European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 12: 491-500. PMID 18359254 DOI: 10.1016/J.Ejpn.2008.01.005 |
0.408 |
|
| 2008 |
Chorão R, Ribeiro A, Gregory A, Santos M, Coelho T, Barbot C, Hayflick S, Carrilho I. WO46 Neurophysiologic studies in infantile neuroaxonal distrophy: retrospective review of five patients carrying PLA2G6 mutations Clinical Neurophysiology. 119. DOI: 10.1016/S1388-2457(08)60209-6 |
0.326 |
|
| 2007 |
Freeman K, Gregory A, Turner A, Blasco P, Hogarth P(, Hayflick S. Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration. Journal of Intellectual Disability Research. 51: 417-426. PMID 17493025 DOI: 10.1111/J.1365-2788.2006.00889.X |
0.405 |
|
| 2007 |
Kuo YM, Hayflick SJ, Gitschier J. Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration Journal of Inherited Metabolic Disease. 30: 310-317. PMID 17429753 DOI: 10.1007/S10545-007-0560-8 |
0.321 |
|
| 2006 |
Westaway SK, Gregory A, Hayflick SJ. Mutations in PLA2G6 and the riddle of Schindler disease Journal of Medical Genetics. 44. PMID 17209134 DOI: 10.1136/Jmg.2006.044966 |
0.372 |
|
| 2006 |
Westaway SK, Ching KH, Levinson B, Gitschier J, Hayflick SJ. Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN). Human Genetics. 119: 679. PMID 17128480 DOI: 10.1007/S00439-006-0179-0 |
0.337 |
|
| 2006 |
Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Seminars in Pediatric Neurology. 13: 182-5. PMID 17101457 DOI: 10.1016/J.Spen.2006.08.007 |
0.484 |
|
| 2006 |
Hayflick S, Westaway S. Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign. Pediatric Radiology. 36: 1329-1329. PMID 17021717 DOI: 10.1007/S00247-006-0309-9 |
0.323 |
|
| 2006 |
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, ... ... Hayflick SJ, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics. 38: 752-4. PMID 16783378 DOI: 10.1038/Ng1826 |
0.468 |
|
| 2006 |
Morgan NV, Westaway SK, Morton JEV, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, ... ... Hayflick SJ, et al. Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron Nature Genetics. 38: 957-957. DOI: 10.1038/Ng0806-957B |
0.428 |
|
| 2005 |
Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathologica. 43: 286-96. PMID 16416393 |
0.415 |
|
| 2005 |
Egan RA, Weleber RG, Hogarth P, Gregory A, Coryell J, Westaway SK, Gitschier J, Das S, Hayflick SJ. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). American Journal of Ophthalmology. 140: 267-74. PMID 16023068 DOI: 10.1016/J.Ajo.2005.03.024 |
0.365 |
|
| 2005 |
Zhang YH, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF, Westaway SK, Hayflick SJ. Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 819-21. PMID 15747360 DOI: 10.1002/Mds.20408 |
0.495 |
|
| 2005 |
Kuo YM, Duncan JL, Westaway SK, Yang H, Nune G, Xu EY, Hayflick SJ, Gitschier J. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Human Molecular Genetics. 14: 49-57. PMID 15525657 DOI: 10.1093/Hmg/Ddi005 |
0.322 |
|
| 2004 |
Chugh SS, Senashova O, Watts A, Tran PT, Zhou Z, Gong Q, Titus JL, Hayflick SJ. Postmortem molecular screening in unexplained sudden death. Journal of the American College of Cardiology. 43: 1625-9. PMID 15120823 DOI: 10.1016/J.Jacc.2003.11.052 |
0.354 |
|
| 2004 |
Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Annals of the New York Academy of Sciences. 1012: 282-98. PMID 15105273 DOI: 10.1196/Annals.1306.023 |
0.455 |
|
| 2004 |
Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 36-42. PMID 14743358 DOI: 10.1002/Mds.10650 |
0.507 |
|
| 2003 |
Hayflick SJ. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Current Opinion in Pediatrics. 15: 572-7. PMID 14631201 DOI: 10.1097/00008480-200312000-00005 |
0.465 |
|
| 2003 |
Klepper J, Schaper J, Raca G, Coryell J, Das S, Hayflick SJ, Voit T. Progressive dystonia in a 12-year-old boy. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 7: 85-8. PMID 12697433 DOI: 10.1016/S1090-3798(03)00019-9 |
0.434 |
|
| 2003 |
Hayflick SJ. Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Journal of the Neurological Sciences. 207: 106-7. PMID 12614941 DOI: 10.1016/S0022-510X(02)00433-1 |
0.34 |
|
| 2003 |
Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. The New England Journal of Medicine. 348: 33-40. PMID 12510040 DOI: 10.1056/Nejmoa020817 |
0.503 |
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| 2002 |
Cossu G, Melis M, Floris G, Hayflick SJ, Spissu A. Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene. Journal of Neurology. 249: 1599-600. PMID 12532925 DOI: 10.1007/S00415-002-0865-3 |
0.414 |
|
| 2002 |
Ching KHL, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration Neurology. 58: 1673-1674. PMID 12058097 DOI: 10.1212/Wnl.58.11.1673 |
0.443 |
|
| 2001 |
Hayflick SJ. First scientific workshop on Hallervorden-Spatz syndrome: executive summary. Pediatric Neurology. 25: 99-101. PMID 11579912 DOI: 10.1016/S0887-8994(00)00273-3 |
0.442 |
|
| 2001 |
Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatric Neurology. 25: 166-9. PMID 11551748 DOI: 10.1016/S0887-8994(01)00296-X |
0.362 |
|
| 2001 |
Zhou B, Bae SK, Malone AC, Levinson BB, Kuo YM, Cilio MR, Bertini E, Hayflick SJ, Gitschier JM. hGFRα-4: A new member of the GDNF receptor family and a candidate for NBIA Pediatric Neurology. 25: 156-161. PMID 11551746 DOI: 10.1016/S0887-8994(00)00277-0 |
0.401 |
|
| 2001 |
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome Nature Genetics. 28: 345-349. PMID 11479594 DOI: 10.1038/Ng572 |
0.47 |
|
| 2000 |
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature Genetics. 26: 142-4. PMID 11017065 DOI: 10.1038/79851 |
0.339 |
|
| 1998 |
Taylor TD, Hayflick SJ, McKinnon W, Guttmacher AE, Hovnanian A, Litt M, Zonana J. Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. Journal of Investigative Dermatology. 111: 83-85. PMID 9665391 DOI: 10.1046/J.1523-1747.1998.00245.X |
0.316 |
|
| 1996 |
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nature Genetics. 14: 479-481. PMID 8944032 DOI: 10.1038/Ng1296-479 |
0.436 |
|
| 1996 |
Hayflick SJ, Taylor T, McKinnon W, Guttmacher AE, Litt M, Zonana J. Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. Journal of Investigative Dermatology. 107: 11-14. PMID 8752831 DOI: 10.1111/1523-1747.Ep12295239 |
0.335 |
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