A Brief History of NBIA Gene Discovery

por Hayflick, Susan J.
Publicado 2023

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

por Lee, Jae-Hyeok, Yun, Ji Young, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J.
Publicado 2020

Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation

por Spaull, Robert V.V., Soo, Audrey K.S., Hogarth, Penelope, Hayflick, Susan J., Kurian, Manju A.
Publicado 2021

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

por Siudeja, Katarzyna, Srinivasan, Balaji, Xu, Lanjun, Rana, Anil, de Jong, Jannie, Nollen, Ellen A A, Jackowski, Suzanne, Sanford, Lynn, Hayflick, Susan, Sibon, Ody C M
Publicado 2011

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

por Brunetti, Dario, Dusi, Sabrina, Morbin, Michela, Uggetti, Andrea, Moda, Fabio, D'Amato, Ilaria, Giordano, Carla, d'Amati, Giulia, Cozzi, Anna, Levi, Sonia, Hayflick, Susan, Tiranti, Valeria
Publicado 2012

Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

por Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther M., Yapici, Zuhal, Prohaska, Rainer, Salzer, Ulrich
Publicado 2013

Correction: Alterations of Red Cell Membrane Properties in Neuroacanthocytosis

por Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther M., Yapici, Zuhal, Prohaska, Rainer, Salzer, Ulrich
Publicado 2013

Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism

por Huang, Yunpeng, Wan, Zhihui, Tang, Yinglu, Xu, Junxuan, Laboret, Bretton, Nallamothu, Sree, Yang, Chenyu, Liu, Boxiang, Lu, Rongze Olivia, Lu, Bingwei, Feng, Juan, Cao, Jing, Hayflick, Susan, Wu, Zhihao, Zhou, Bing
Publicado 2022

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

por 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
Publicado 2019

Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency

por Papandreou, Apostolos, Singh, Nivedita, Gianfrancesco, Lorita, Budinger, Dimitri, Barwick, Katy, Agrotis, Alexander, Luft, Christin, Shao, Ying, Lenaerts, An-Sofie, Gregory, Allison, Jeong, Suh Young, Hogarth, Penelope, Hayflick, Susan, Barral, Serena, Kriston-Vizi, Janos, Gissen, Paul, Kurian, Manju A, Ketteler, Robin
Publicado 2023

Microenvironmental Regulation by Fibrillin-1

por 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.
Publicado 2012

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

por Mohammad, Shekeeb S, Angiti, Rajeshwar Reddy, Biggin, Andrew, Morales-Briceño, Hugo, Goetti, Robert, Perez-Dueñas, Belen, Gregory, Allison, Hogarth, Penelope, Ng, Joanne, Papandreou, Apostolos, Bhattacharya, Kaustuv, Rahman, Shamima, Prelog, Kristina, Webster, Richard I, Wassmer, Evangeline, Hayflick, Susan, Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C
Publicado 2020

4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

por 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
Publicado 2019

Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

por Poole, Olivia V., Pizzamiglio, Chiara, Murphy, David, Falabella, Micol, Macken, William L., Bugiardini, Enrico, Woodward, Cathy E., Labrum, Robyn, Efthymiou, Stephanie, Salpietro, Vincenzo, Chelban, Viorica, Kaiyrzhanov, Rauan, Maroofian, Reza, Amato, Anthony A., Gregory, Allison, Hayflick, Susan J., Jonvik, Hallgeir, Wood, Nicholas, Houlden, Henry, Vandrovcova, Jana, Hanna, Michael G., Pittman, Alan, Pitceathly, Robert D.S.
Publicado 2021

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

por Di Meo, Ivano, Colombelli, Cristina, Srinivasan, Balaji, de Villiers, Marianne, Hamada, Jeffrey, Jeong, Suh Y., Fox, Rachel, Woltjer, Randall L., Tepper, Pieter G., Lahaye, Liza L., Rizzetto, Emanuela, Harrs, Clara H., de Boer, Theo, van der Zwaag, Marianne, Jenko, Branko, Čusak, Alen, Pahor, Jerca, Kosec, Gregor, Grzeschik, Nicola A., Hayflick, Susan J., Tiranti, Valeria, Sibon, Ody C. M.
Publicado 2017

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

por Gregory, Allison, Lotia, Mitesh, Jeong, Suh Young, Fox, Rachel, Zhen, Dolly, Sanford, Lynn, Hamada, Jeff, Jahic, Amir, Beetz, Christian, Freed, Alison, Kurian, Manju A., Cullup, Thomas, van der Weijden, Marlous C. M., Nguyen, Vy, Setthavongsack, Naly, Garcia, Daphne, Krajbich, Victoria, Pham, Thao, Woltjer, Randy, George, Benjamin P., Minks, Kelly Q., Paciorkowski, Alexander R., Hogarth, Penelope, Jankovic, Joseph, Hayflick, Susan J.
Publicado 2019

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

por Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.
Publicado 2016

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022