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Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.
Published in:
EMBO Molecular Medicine, 2011, v. 3, n. 12, p. 755, doi. 10.1002/emmm.201100180
By:
- 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.
Publication type:
Article
Intracellular Zn<sup>2+</sup> transients modulate global gene expression in dissociated rat hippocampal neurons.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45844-2
By:
- Sanford, Lynn;
- Carpenter, Margaret C.;
- Palmer, Amy E.
Publication type:
Article
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Published in:
2013
By:
- 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
Publication type:
journal article
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1708, doi. 10.1093/brain/awt095
By:
- 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
Publication type:
Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Published in:
Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
By:
- 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
Publication type:
Article
Remodeling of Zn<sup>2+</sup> homeostasis upon differentiation of mammary epithelial cells.
Published in:
Metallomics, 2020, v. 12, n. 3, p. 346, doi. 10.1039/c9mt00301k
By:
- Han, Yu;
- Sanford, Lynn;
- Simpson, David M.;
- Dowell, Robin D.;
- Palmer, Amy E.
Publication type:
Article
Mutations in γ adducin are associated with inherited cerebral palsy.
Published in:
2013
By:
- Kruer, Michael C;
- Jepperson, Tyler;
- Dutta, Sudeshna;
- Steiner, Robert D;
- Cottenie, Ellen;
- Sanford, Lynn;
- Merkens, Mark;
- Russman, Barry S;
- Blasco, Peter A;
- Fan, Guang;
- Pollock, Jeffrey;
- Green, Sarah;
- Woltjer, Randall L;
- Mooney, Catherine;
- Kretzschmar, Doris;
- Paisán-Ruiz, Coro;
- Houlden, Henry
Publication type:
journal article
Mutations in gamma adducin are associated with inherited cerebral palsy.
Published in:
Annals of Neurology, 2013, v. 74, n. 6, p. 805, doi. 10.1002/ana.23971
By:
- Kruer, Michael C.;
- Jepperson, Tyler;
- Dutta, Sudeshna;
- Steiner, Robert D.;
- Cottenie, Ellen;
- Sanford, Lynn;
- Merkens, Mark;
- Russman, Barry S.;
- Blasco, Peter A.;
- Fan, Guang;
- Pollock, Jeffrey;
- Green, Sarah;
- Woltjer, Randall L.;
- Mooney, Catherine;
- Kretzschmar, Doris;
- Paisán‐Ruiz, Coro;
- Houlden, Henry
Publication type:
Article
Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN).
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.736
By:
- 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;
- Weijden, Marlous C. M.;
- Nguyen, Vy;
- Setthavongsack, Naly;
- Garcia, Daphne;
- Krajbich, Victoria;
- Pham, Thao;
- Woltjer, Randy;
- George, Benjamin P.
Publication type:
Article

Found: 9