Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage von Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis von Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav

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Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders von Ghosh, Arunava, Jana, Malabendu, Modi, Khushbu, Gonzalez, Frank J, Sims, Katherine B, Berry-Kravis, Elizabeth, Pahan, Kalipada

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore

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Examining Predictors of Relationship Dissolution Among Unmarried Parents: Applying the Vulnerability-Stress-Adaptation Framework von Duncan, Jeneé C., Zhang, Xiaoya, Futris, Ted G., Sims, Katherine M.

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway von Lojewski, Xenia, Staropoli, John F, Biswas-Legrand, Sunita, Simas, Alexandra M, Haliw, Larissa, Selig, Martin K, Coppel, Scott H, Goss, Kendrick A, Petcherski, Anton, Chandrachud, Uma, Sheridan, Steven D, Lucente, Diane, Sims, Katherine B, Gusella, James F, Sondhi, Dolan, Crystal, Ronald G, Reinhardt, Peter, Sterneckert, Jared, Schöler, Hans, Haggarty, Stephen J, Storch, Alexander, Hermann, Andreas, Cotman, Susan L

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing von Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.

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Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy von Maron, Martin S., Xin, Winnie, Sims, Katherine B., Butler, Rita, Haas, Tammy S., Rowin, Ethan J., Desnick, Robert J., Maron, Barry J.

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OsARF11 Promotes Growth, Meristem, Seed, and Vein Formation during Rice Plant Development von Sims, Katherine, Abedi-Samakush, Fatemeh, Szulc, Nicole, Macias Honti, Monika Gyongyi, Mattsson, Jim

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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System von Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.

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plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells von Shaham, Oded, Slate, Nancy G, Goldberger, Olga, Xu, Qiuwei, Ramanathan, Arvind, Souza, Amanda L, Clish, Clary B, Sims, Katherine B, Mootha, Vamsi K

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TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia von Dy, Marisela E, Sims, Katherine B, Friedman, Jennifer

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Targeted exome sequencing of suspected mitochondrial disorders von Lieber, Daniel S, Calvo, Sarah E, Shanahan, Kristy, Slate, Nancy G, Liu, Shangtao, Hershman, Steven G, Gold, Nina B, Chapman, Brad A, Thorburn, David R, Berry, Gerard T, Schmahmann, Jeremy D, Borowsky, Mark L, Mueller, David M, Sims, Katherine B, Mootha, Vamsi K

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Powering the Immune System: Mitochondria in Immune Function and Deficiency von Walter, Jolan E., Sims, Katherine B., Volpi, Stefano, Walker, Melissa A., Traggiai, Elisabetta

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways von Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

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Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers von Sleat, David E, Tannous, Abla, Sohar, Istvan, Wiseman, Jennifer A, Zheng, Haiyan, Qian, Meiqian, Zhao, Caifeng, Xin, Winnie, Barone, Rosemary, Sims, Katherine B, Moore, Dirk F, Lobel, Peter

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis von Smith, Katherine R, Dahl, Hans-Henrik M, Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C, Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F, Sims, Katherine B, Mole, Sara E, Franceschetti, Silvana, Alexander, Noreen A, Cooper, Jonathan D, Chapman, Harold A, Carpenter, Stirling, Berkovic, Samuel F, Bahlo, Melanie

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Determinants of white matter hyperintensity burden in patients with Fabry disease von Rost, Natalia S, Cloonan, Lisa, Kanakis, Allison S, Fitzpatrick, Kaitlin M, Azzariti, Danielle R, Clarke, Virginia, Lourenco, Charles M, Germain, Dominique P, Politei, Juan M, Homola, György A, Sommer, Claudia, Üçeyler, Nurcan, Sims, Katherine B

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Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa von van der Ploeg, Ans T., Barohn, Richard, Carlson, Lisa, Charrow, Joel, Clemens, Paula R., Hopkin, Robert J., Kishnani, Priya S., Laforêt, Pascal, Morgan, Claire, Nations, Sharon, Pestronk, Alan, Plotkin, Horacio, Rosenbloom, Barry E., Sims, Katherine B., Tsao, Elisa

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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum von Cotman, Susan L., Karaa, Amel, Staropoli, John F., Sims, Katherine B.

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