Search Results - "Mamah, Catherine"

TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2 by Woolums, Brian M., McCray, Brett A., Sung, Hyun, Tabuchi, Masashi, Sullivan, Jeremy M., Ruppell, Kendra Takle, Yang, Yunpeng, Mamah, Catherine, Aisenberg, William H., Saavedra-Rivera, Pamela C., Larin, Bryan S., Lau, Alexander R., Robinson, Douglas N., Xiang, Yang, Wu, Mark N., Sumner, Charlotte J., Lloyd, Thomas E.

“…The cation channel transient receptor potential vanilloid 4 (TRPV4) is one of the few identified ion channels that can directly cause inherited…”
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Interaction of α-synuclein and tau genotypes in Parkinson's disease by Mamah, Catherine E., Lesnick, Timothy G., Lincoln, Sarah J., Strain, Kari J., de Andrade, Mariza, Bower, James H., Ahlskog, J. Eric, Rocca, Walter A., Farrer, Matthew J., Maraganore, Demetrius M.

“…To determine whether the microtubule‐associated protein tau (MAPT) and α‐synuclein (SNCA) genes interact to confer Parkinson's disease (PD) susceptibility, we…”
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification by Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni

“…Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal…”
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Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia by Fogel, Brent L., Lee, Ji Yong, Lane, Jessica, Wahnich, Amanda, Chan, Sandy, Huang, Alden, Osborn, Greg E., Klein, Eric, Mamah, Catherine, Perlman, Susan, Geschwind, Daniel H., Coppola, Giovanni

“…Background: Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare…”
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TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca 2 by Woolums, Brian M, McCray, Brett A, Sung, Hyun, Tabuchi, Masashi, Sullivan, Jeremy M, Ruppell, Kendra Takle, Yang, Yunpeng, Mamah, Catherine, Aisenberg, William H, Saavedra-Rivera, Pamela C, Larin, Bryan S, Lau, Alexander R, Robinson, Douglas N, Xiang, Yang, Wu, Mark N, Sumner, Charlotte J, Lloyd, Thomas E

“…The cation channel transient receptor potential vanilloid 4 (TRPV4) is one of the few identified ion channels that can directly cause inherited…”
Get full text