Neurodegeneration with brain iron accumulation
Hayflick, Susan J., Kurian, Manju A., Hogarth, Penelope
Published in Handbook of Clinical Neurology (2018)
Published in Handbook of Clinical Neurology (2018)
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Book Chapter
Journal Article
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
Genetics of Neurodegeneration with Brain Iron Accumulation
Gregory, Allison, Hayflick, Susan J.
Published in Current neurology and neuroscience reports (01.06.2011)
Published in Current neurology and neuroscience reports (01.06.2011)
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Journal Article
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study
Klopstock, Thomas, Tricta, Fernando, Neumayr, Lynne, Karin, Ivan, Zorzi, Giovanna, Fradette, Caroline, Kmieć, Tomasz, Büchner, Boriana, Steele, Hannah E, Horvath, Rita, Chinnery, Patrick F, Basu, Anna, Küpper, Clemens, Neuhofer, Christiane, Kálmán, Bernadette, Dušek, Petr, Yapici, Zuhal, Wilson, Ian, Zhao, Feng, Zibordi, Federica, Nardocci, Nardo, Aguilar, Christine, Hayflick, Susan J, Spino, Michael, Blamire, Andrew M, Hogarth, Penelope, Vichinsky, Elliott
Published in Lancet neurology (01.07.2019)
Published in Lancet neurology (01.07.2019)
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Journal Article
PKAN pathogenesis and treatment
Hayflick, Susan J., Jeong, Suh Young, Sibon, Ody C.M.
Published in Molecular genetics and metabolism (01.11.2022)
Published in Molecular genetics and metabolism (01.11.2022)
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Journal Article
Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder
Gregory, Allison, Wilson, Jenny L., Hogarth, Penelope, Hayflick, Susan J.
Published in Pediatric neurology (01.01.2023)
Published in Pediatric neurology (01.01.2023)
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Journal Article
Microenvironmental regulation by fibrillin-1
Sengle, Gerhard, Tsutsui, Ko, Keene, Douglas R, Tufa, Sara F, Carlson, Eric J, Charbonneau, Noe L, Ono, Robert N, Sasaki, Takako, Wirtz, Mary K, Samples, John R, Fessler, Liselotte I, Fessler, John H, Sekiguchi, Kiyotoshi, Hayflick, Susan J, Sakai, Lynn Y
Published in PLoS genetics (01.01.2012)
Published in PLoS genetics (01.01.2012)
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Journal Article
CoA‐dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases
Lambrechts, Roald A, Schepers, Hein, Yu, Yi, van der Zwaag, Marianne, Autio, Kaija J, Vieira‐Lara, Marcel A, Bakker, Barbara M, Tijssen, Marina A, Hayflick, Susan J, Grzeschik, Nicola A, Sibon, Ody CM
Published in EMBO molecular medicine (01.12.2019)
Published in EMBO molecular medicine (01.12.2019)
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Journal Article
Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
Lee, Jae-Hyeok, Yun, Ji Young, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J
Published in Frontiers in neurology (10.09.2020)
Published in Frontiers in neurology (10.09.2020)
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Journal Article
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Mollereau, Bertrand, Hayflick, Susan J, Escalante, Ricardo, Mauthe, Mario, Papandreou, Apostolos, Iuso, Arcangela, Celle, Marion, Aniorte, Sahra, Issa, Abdul Raouf, Lasserre, Jean Paul, Lesca, Gaetan, Thobois, Stéphane, Burger, Pauline, Walter, Ludivine
Published in Autophagy (02.12.2023)
Published in Autophagy (02.12.2023)
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Journal Article
4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
Jeong, Suh Young, Hogarth, Penelope, Placzek, Andrew, Gregory, Allison M, Fox, Rachel, Zhen, Dolly, Hamada, Jeffrey, van der Zwaag, Marianne, Lambrechts, Roald, Jin, Haihong, Nilsen, Aaron, Cobb, Jared, Pham, Thao, Gray, Nora, Ralle, Martina, Duffy, Megan, Schwanemann, Leila, Rai, Puneet, Freed, Alison, Wakeman, Katrina, Woltjer, Randall L, Sibon, Ody CM, Hayflick, Susan J
Published in EMBO molecular medicine (01.12.2019)
Published in EMBO molecular medicine (01.12.2019)
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Journal Article
Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
Wilson, Jenny L, Gregory, Allison, Kurian, Manju A, Bushlin, Ittai, Mochel, Fanny, Emrick, Lisa, Adang, Laura, Hogarth, Penelope, Hayflick, Susan J, Rogers, Caleb, Lee, Jae‐Hyeok, Burke, Kimberly, Dyer, Meg Tally, Stretter, Donna
Published in Developmental medicine and child neurology (01.12.2021)
Published in Developmental medicine and child neurology (01.12.2021)
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Journal Article
Coenzyme A precursors flow from mother to zygote and from microbiome to host
Yu, Yi, van der Zwaag, Marianne, Wedman, Jouke Jan, Permentier, Hjalmar, Plomp, Niels, Jia, Xiu, Kanon, Bart, Eggens-Meijer, Ellie, Buist, Girbe, Harmsen, Hermie, Kok, Jan, Salles, Joana Falcao, Wertheim, Bregje, Hayflick, Susan J, Strauss, Erick, Grzeschik, Nicola A, Schepers, Hein, Sibon, Ody C M
Published in Molecular cell (21.07.2022)
Published in Molecular cell (21.07.2022)
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Journal Article
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
Kruer, Michael C., Paisán-Ruiz, Coro, Boddaert, Nathalie, Yoon, Moon Y., Hama, Hiroko, Gregory, Allison, Malandrini, Alessandro, Woltjer, Randall L., Munnich, Arnold, Gobin, Stephanie, Polster, Brenda J., Palmeri, Silvia, Edvardson, Simon, Hardy, John, Houlden, Henry, Hayflick, Susan J.
Published in Annals of neurology (01.11.2010)
Published in Annals of neurology (01.11.2010)
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