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

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

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

por Illingworth, M.A., Meyer, E., Chong, W.K., Manzur, A.Y., Carr, L.J., Younis, R., Hardy, C., McDonald, F., Childs, A.M., Stewart, B., Warren, D., Kneen, R., King, M.D., Hayflick, S.J., Kurian, M.A.
Publicado 2014

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

Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation

por Timmermann, L., Pauls, K. A. M., Wieland, K., Jech, R., Kurlemann, G., Sharma, N., Gill, S. S., Haenggeli, C. A., Hayflick, S. J., Hogarth, P., Leenders, K. L., Limousin, P., Malanga, C. J., Moro, E., Ostrem, J. L., Revilla, F. J., Santens, P., Schnitzler, A., Tisch, S., Valldeoriola, F., Vesper, J., Volkmann, J., Woitalla,, D., Peker, S.
Publicado 2010

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