Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
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.
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Journal Article
Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders
Ghosh, Arunava, Jana, Malabendu, Modi, Khushbu, Gonzalez, Frank J, Sims, Katherine B, Berry-Kravis, Elizabeth, Pahan, Kalipada
Published in The Journal of biological chemistry (17.04.2015)
Published in The Journal of biological chemistry (17.04.2015)
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Journal Article
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
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
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Journal Article
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
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
Published in Genetics in medicine (01.09.2015)
Published in Genetics in medicine (01.09.2015)
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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
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.
Published in Genetics in medicine (01.04.2015)
Published in Genetics in medicine (01.04.2015)
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Journal Article
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy
Maron, Martin S., Xin, Winnie, Sims, Katherine B., Butler, Rita, Haas, Tammy S., Rowin, Ethan J., Desnick, Robert J., Maron, Barry J.
Published in The American journal of medicine (01.02.2018)
Published in The American journal of medicine (01.02.2018)
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Journal Article
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
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
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
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.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells
Shaham, Oded, Slate, Nancy G, Goldberger, Olga, Xu, Qiuwei, Ramanathan, Arvind, Souza, Amanda L, Clish, Clary B, Sims, Katherine B, Mootha, Vamsi K
Published in Proceedings of the National Academy of Sciences - PNAS (26.01.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (26.01.2010)
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Journal Article
Targeted exome sequencing of suspected mitochondrial disorders
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
Published in Neurology (07.05.2013)
Published in Neurology (07.05.2013)
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Journal Article
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers
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
Published in Journal of proteome research (06.10.2017)
Published in Journal of proteome research (06.10.2017)
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Journal Article
Powering the Immune System: Mitochondria in Immune Function and Deficiency
Walter, Jolan E., Sims, Katherine B., Volpi, Stefano, Walker, Melissa A., Traggiai, Elisabetta
Published in Journal of Immunology Research (01.01.2014)
Published in Journal of Immunology Research (01.01.2014)
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Journal Article
Determinants of white matter hyperintensity burden in patients with Fabry disease
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
Published in Neurology (17.05.2016)
Published in Neurology (17.05.2016)
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Journal Article
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
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
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Journal Article
Enzyme Replacement Therapy Stabilized White Matter Lesion Progression in Fabry Disease
Fellgiebel, Andreas, Gartenschläger, Martin, Wildberger, Kerstin, Scheurich, Armin, Desnick, Robert J., Sims, Katherine
Published in Cerebrovascular diseases (Basel, Switzerland) (01.01.2014)
Published in Cerebrovascular diseases (Basel, Switzerland) (01.01.2014)
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Journal Article
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis
Wu, David, Yu, Wenhao, Kishikawa, Hiroko, Folkerth, Rebecca D., Iafrate, A. John, Shen, Yiping, Xin, Winnie, Sims, Katherine, Hu, Guo-fu
Published in Annals of neurology (01.12.2007)
Published in Annals of neurology (01.12.2007)
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