檢索結果 - Gregory, Allison

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

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

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Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration 由 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 由 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 由 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 由 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 由 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 由 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 由 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) 由 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 由 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 由 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 由 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) 由 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 由 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 由 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 由 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 由 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 由 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 由 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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