Neurodegeneration with brain iron accumulation

Por Gregory, Allison, Hayflick, Susan J.
Publicado em 2005

As iron goes, so goes disease?

Por Hayflick, Susan J., Hogarth, Penelope
Publicado em 2011

Characterization of the human PANK2 promoter

Por Polster, Brenda J., Yoon, Moon Y., Hayflick, Susan J.
Publicado em 2010

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

Por Kuo, Yien-Ming, Duncan, Jacque L., Westaway, Shawn K., Yang, Haidong, Nune, George, Xu, Eugene Yujun, Hayflick, Susan J., Gitschier, Jane
Publicado em 2004

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

Por Kruer, Michael C., Hiken, Mark, Gregory, Allison, Malandrini, Alessandro, Clark, David, Hogarth, Penny, Grafe, Marjorie, Hayflick, Susan J., Woltjer, Randall L.
Publicado em 2011

Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Por Egan, Robert A., Weleber, Richard G., Hogarth, Penelope, Gregory, Allison, Coryell, Jason, Westaway, Shawn K., Gitschier, Jane, Das, Soma, Hayflick, Susan J.
Publicado em 2005

Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Por Zhang, Yu-hu, Tang, Bei-sha, Zhao, Ai-ling, Xia, Kun, Long, Zhi-gao, Guo, Ji-feng, Westaway, Shawn K., Hayflick, Susan J.
Publicado em 2005

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

Por Prohaska, Rainer, Sibon, Ody C.M., Rudnicki, Dobrila D., Danek, Adrian, Hayflick, Susan J., Verhaag, Esther M., Jan J, Vonk, Margolis, Russell L., Walker, Ruth H.
Publicado em 2012

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

Por Kruer, Michael C., Paudel, Reema, Wagoner, Wendy, Sanford, Lynn, Kara, Eleanna, Gregory, Allison, Foltynie, Tom, Lees, Andrew, Bhatia, Kailash, Hardy, John, Hayflick, Susan J., Houlden, Henry
Publicado em 2012

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 em 2012

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globuspallidus

Por Woltjer, Randall L., Reese, Lindsay C., Richardson, Brian E., Tran, Huong, Green, Sarah, Pham, Thao, Chalupsky, Megan, Gabriel, Isabella, Light, Tyler, Sanford, Lynn, Jeong, Suh Y., Hamada, Jeffrey, Schwanemann, Leila K., Rogers, Caleb, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J.
Publicado no Mol Genet Metab (2015)

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

Por Hogarth, Penelope, Gregory, Allison, Kruer, Michael C., Sanford, Lynn, Wagoner, Wendy, Natowicz, Marvin R., Egel, Robert T., Subramony, S.H., Goldman, Jennifer G., Berry-Kravis, Elizabeth, Foulds, Nicola C., Hammans, Simon R., Desguerre, Isabelle, Rodriguez, Diana, Wilson, Callum, Diedrich, Andrea, Green, Sarah, Tran, Huong, Reese, Lindsay, Woltjer, Randall L., Hayflick, Susan J.
Publicado em 2013

PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Por Morgan, Neil V, Westaway, Shawn K, Morton, Jenny E V, Gregory, Allison, Gissen, Paul, Sonek, Scott, Cangul, Hakan, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Zorzi, Giovanna, Pasha, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertini, Enrico, Trembath, Richard C, Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A, Levinson, Barbara, Woods, C Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R, Hayflick, Susan J
Publicado em 2006

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Por 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.
Publicado em 2012

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

Por Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Publicado no Am J Hum Genet (2016)

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Por Hayflick, Susan J., Kruer, Michael C., Gregory, Allison, Haack, Tobias B., Kurian, Manju A., Houlden, Henry H., Anderson, James, Boddaert, Nathalie, Sanford, Lynn, Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Holden, Kenton R., Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Mignot, Cyril, Héron, Delphine, Saunders, Dawn E., Kaminska, Margaret, Lin, Jean-Pierre, Lascelles, Karine, Cuno, Stephan M., Meyer, Esther, Garavaglia, Barbara, Bhatia, Kailash, de Silva, Rajith, Crisp, Sarah, Lunt, Peter, Carey, Martyn, Hardy, John, Meitinger, Thomas, Prokisch, Holger, Hogarth, Penelope
Publicado em 2013

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Por 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.
Publicado no Am J Hum Genet (2014)

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 no Nat Commun (2016)