The neurobiology of Down syndrome

द्वारा Sims, Katherine B., Breakefield, Xandra O.
प्रकाशित 1988

Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology

द्वारा Sleat, David E., Ding, Lin, Wang, Shudan, Zhao, Caifeng, Wang, Yanhong, Xin, Winnie, Zheng, Haiyan, Moore, Dirk F., Sims, Katherine B., Sims, Katherine B.
प्रकाशित 2009

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

द्वारा Cotman, Susan L., Karaa, Amel, Staropoli, John F., Sims, Katherine B.
प्रकाशित 2013

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

द्वारा Staropoli, John F, Xin, Winnie, Barone, Rosemary, Cotman, Susan L, Sims, Katherine B
प्रकाशित 2012

Powering the Immune System: Mitochondria in Immune Function and Deficiency

द्वारा Walker, Melissa A., Volpi, Stefano, Sims, Katherine B., Walter, Jolan E., Traggiai, Elisabetta
प्रकाशित 2014

Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia

द्वारा Sharma, Nutan, Armata, Ioanna A., Multhaupt-Buell, Trisha J., Ozelius, Laurie J., Xin, Winnie, Sims, Katherine B.
प्रकाशित 2011

Activation of Peroxisome Proliferator-activated Receptor α Induces Lysosomal Biogenesis in Brain Cells: IMPLICATIONS FOR LYSOSOMAL STORAGE DISORDERS

द्वारा Ghosh, Arunava, Jana, Malabendu, Modi, Khushbu, Gonzalez, Frank J., Sims, Katherine B., Berry-Kravis, Elizabeth, Pahan, Kalipada
में प्रकाशित J Biol Chem (2015)

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations

द्वारा Freeman, Stefanie H., Hyman, Bradley T., Sims, Katherine B., Hedley‐Whyte, E. T., Vossough, Arastoo, Frosch, Matthew P., Schmahmann, Jeremy D.
प्रकाशित 2008

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

द्वारा Lieber, Daniel S, Hershman, Steven G, Slate, Nancy G, Calvo, Sarah E, Sims, Katherine B, Schmahmann, Jeremy D, Mootha, Vamsi K
प्रकाशित 2014

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

द्वारा Burlina, Alessandro P, Sims, Katherine B, Politei, Juan M, Bennett, Gary J, Baron, Ralf, Sommer, Claudia, Møller, Anette Torvin, Hilz, Max J
प्रकाशित 2011

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

द्वारा Shaham, Oded, Slate, Nancy G., Goldberger, Olga, Xu, Qiuwei, Ramanathan, Arvind, Souza, Amanda L., Clish, Clary B., Sims, Katherine B., Mootha, Vamsi K.
प्रकाशित 2010

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers

द्वारा Sleat, Davd E., Tannous, Abla, Sohar, Istvan, Wiseman, Jennfe A., Zheng, Haiyan, Qian, Meiqian, Zhao, Caifeng, Xin, Winnie, Barone, Rosemary, Sims, Katherine B., Moore, Dirk F., Lobel, Peter
में प्रकाशित J Proteome Res (2017)

Norrie disease gene is distinct from the monoamine oxidase genes

द्वारा Sims, Katherine B., Ozelius, Laurie, Corey, Timothy, Rinehart, William B., Liberfarb, Ruth, Haines, Jonathan, Chen, Wei Jane, Norio, Reijo, Sankila, Eeva, de la Chapelle, Albert, Murphy, Dennis L., Gusella, James, Breakefield, Xandra O.
प्रकाशित 1989

Determinants of white matter hyperintensity burden in patients with Fabry disease

द्वारा 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.
में प्रकाशित Neurology (2016)

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

द्वारा Li, Shuping, Sheng, Jinghao, Hu, Jamie K., Yu, Wenhao, Kishikawa, Hiroko, Hu, Miaofen G., Shima, Kaori, Wu, David, Xu, Zhengping, Xin, Winnie, Sims, Katherine B., Landers, John E., Brown, Robert H., Hu, Guo-fu
प्रकाशित 2012

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

द्वारा 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.
प्रकाशित 2012

Targeted exome sequencing of suspected mitochondrial disorders

द्वारा 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.
प्रकाशित 2013

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

द्वारा 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
प्रकाशित 2011

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

द्वारा 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
प्रकाशित 2011

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

द्वारा 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.
प्रकाशित 2012