Search Results - "Browning, Marsha F."

Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV by Venugopal, Bhuvarahamurthy, Browning, Marsha F., Curcio-Morelli, Cyntia, Varro, Andrea, Michaud, Norman, Nanthakumar, Nanda, Walkley, Steven U., Pickel, James, Slaugenhaupt, Susan A.

“…Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene, which encodes the 65-kDa protein…”
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Macroautophagy is defective in mucolipin-1-deficient mouse neurons by Curcio-Morelli, Cyntia, Charles, Florie A, Micsenyi, Matthew C, Cao, Yi, Venugopal, Bhuvarahamurthy, Browning, Marsha F, Dobrenis, Kostantin, Cotman, Susan L, Walkley, Steven U, Slaugenhaupt, Susan A

“…Abstract Mucolipidosis type IV is a neurodegenerative lysosomal disease clinically characterized by psychomotor retardation, visual impairment, and…”
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Functional multimerization of mucolipin channel proteins by Curcio-Morelli, Cyntia, Zhang, Peng, Venugopal, Bhuvarahamurthy, Charles, Florie A., Browning, Marsha F., Cantiello, Horacio F., Slaugenhaupt, Susan A.

“…MCOLN1 encodes mucolipin‐1 (TRPML1), a member of the transient receptor potential TRPML subfamily of channel proteins. Mutations in MCOLN1 cause…”
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Fetal fatty acid oxidation defects and maternal liver disease in pregnancy by BROWNING, Marsha F, LEVY, Harvey L, WILKINS-HAUG, Louise E, LARSON, Cecilia, SHIH, Vivian E

“…The objective was to evaluate the relationships between all types of fetal fatty acid oxidation defects and maternal liver disease, including acute fatty liver…”
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Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency by Lipstein, Ellen A, Vorono, Sienna, Browning, Marsha F, Green, Nancy S, Kemper, Alex R, Knapp, Alixandra A, Prosser, Lisa A, Perrin, James M

“…Severe combined immunodeficiency (SCID) is a group of disorders that leads to early childhood death as a result of severe infections. Recent research has…”
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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay by Wiśniowiecka-Kowalnik, Barbara, Nesteruk, Monika, Peters, Sarika U., Xia, Zhilian, Cooper, M. Lance, Savage, Sarah, Amato, R. Stephen, Bader, Patricia, Browning, Marsha F., Haun, Christa L., Duda III, Andrew Walter, Cheung, Sau Wai, Stankiewicz, Paweł

“…NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol…”
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Parents' Decision-Making in Newborn Screening: Opinions, Choices, and Information Needs by LIPSTEIN, Ellen A, NABI, Emara, PERRIN, James M, LUFF, Donna, BROWNING, Marsha F, KUHLTHAU, Karen A

“…Our objective was to describe how parents consider disease and test characteristics when making decisions about newborn screening. We conducted focus groups…”
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Effect of sample collection on α-galactosidase A enzyme activity measurements in dried blood spots on filter paper by Olivova, Petra, der Veen, Kristen van, Cullen, Emmaline, Rose, Michael, Zhang, X. Kate, Sims, Katherine B., Keutzer, Joan, Browning, Marsha F.

“…Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha galactosidase A (AGAL, EC 3.2.1.22). Despite increasing utilization of dried…”
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An evidence development process for newborn screening by Perrin, James M., Knapp, Alixandra A., Browning, Marsha F., Comeau, Anne Marie, Green, Nancy S., Lipstein, Ellen A., Metterville, Danielle R., Prosser, Lisa, Queally, Denise, Kemper, Alex R.

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Ocular manifestations of Fabry disease within in a single kindred by Morier, Albert M., Minteer, John, Tyszko, Robert, McCann, Rachel, Clarke, M. Virginia, Browning, Marsha F.

“…Fabry disease is an X-linked lysosomal storage disorder that causes progressive complications within the kidneys, brain, and heart. Ocular manifestations of…”
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Regular Article Macroautophagy is Defective in Mucolipin 1-Deficient Mouse Neurons by Curcio-Morelli, Cyntia, Charles, Florie A., Micsenyi, Matthew C., Cao, Yi, Venugopal, Bhuvarahamurthy, Browning, Marsha F., Dobrenis, Kostantin, Cotman, Susan L., Walkley, Steven U., Slaugenhaupt, Susan A.

“…Mucolipidosis Type IV is a neurodegenerative lysosomal disease clinically characterized by psychomotor retardation, visual impairment, and achlorhydria. In…”
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34. Macroautophagy is defective in mucolipin 1-deficient mouse neurons by Curcio-Morelli, Cyntia, Charles, Florie A., Micsenyi, Matthew C., Cao, Yi, Venugopal, Bhuvarahamurthy, Browning, Marsha F., Dobrenis, Kostantin, Cotman, Susan L., Walkley, Steven U., Slaugenhaupt, Susan A.

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