Zoekresultaten - Gregory, Allison

Neurodegeneration with brain iron accumulation door Gregory, Allison, Hayflick, Susan J.

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Genetics of Neurodegeneration with Brain Iron Accumulation door Gregory, Allison, Hayflick, Susan J.

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Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration door Williams, Sarah, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J., Gillingham, Melanie B.

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Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation door Lee, Jae-Hyeok, Yun, Ji Young, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J.

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WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation door Crisp, Sarah J., Meyer, Esther, Gregory, Allison, Archer, Hayley, Hayflick, Susan, Kurian, Manju A., de Silva, Rajith

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In vivo regulatory phosphorylation of the phosphoenolpyruvate carboxylase AtPPC1 in phosphate-starved Arabidopsis thaliana door Gregory, Allison L., Hurley, Brenden A., Tran, Hue T., Valentine, Alexander J., She, Yi-Min, Knowles, Vicki L., Plaxton, William C.

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Clinical records organized and optimized for clinical integration and clinical decision making door Vanderbilt, Allison A., Jain, Samay, Mayer, Sallie D., Gregory, Allison A., Ryan, Mark H., Bradner, Melissa K., Baugh, Reginald F.

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A new NBIA patient from Turkey with homozygous C19ORF12 mutation door Kasapkara, Çloğdem Seher, Tümer, Leyla, Gregory, Allison, Ezgü, Fatih, İnci, Aslı, Derinkuyu, Betül Emine, Fox, Rachel, Rogers, Caleb, Hayflick, Susan

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Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration door Kruer, Michael C., Hiken, Mark, Gregory, Allison, Malandrini, Alessandro, Clark, David, Hogarth, Penny, Grafe, Marjorie, Hayflick, Susan J., Woltjer, Randall L.

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Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome) door Egan, Robert A., Weleber, Richard G., Hogarth, Penelope, Gregory, Allison, Coryell, Jason, Westaway, Shawn K., Gitschier, Jane, Das, Soma, Hayflick, Susan J.

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

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Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis door 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

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Correction: Alterations of Red Cell Membrane Properties in Neuroacanthocytosis door 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

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Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA) door 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.

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Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders door 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

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

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

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

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Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation door Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom, Tim M., Invernizzi, Federica, Garavaglia, Barbara, Gregory, Allison, Sanford, Lynn, Hamada, Jeffrey, Bettencourt, Conceição, Houlden, Henry, Chiapparini, Luisa, Zorzi, Giovanna, Kurian, Manju A., Nardocci, Nardo, Prokisch, Holger, Hayflick, Susan, Gout, Ivan, Tiranti, Valeria

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

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