Search Results - "Browning, Marsha"

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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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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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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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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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis by Wang, Guo-li, Wang, Jing, Douglas, Ganka, Browning, Marsha, Hahn, Sihoun, Ganesh, Jaya, Cox, Sarah, Aleck, Kirk, Schmitt, Eric S., Zhang, Wei, Wong, Lee-Jun C.

“…Carnitine–acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease of fatty acid oxidation, mainly affecting long chain fatty acid…”
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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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Diurnal effects on sporangium and zoospore production by Phytophthora ramorum on Rhododendron 'Cunningham's White' by Tooley, Paul W., Browning, Marsha, Vinyard, Bryan

“…We evaluated sporangium and zoospore production by three isolates of Phytophthora ramorum on Rhododendron 'Cunningham's White' leaves under light and dark…”
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23. Fabry disease identification by Browning, Marsha

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Sporangia Production Over Time by Phytophthora ramorum on Rhododendron 'Cunningham's White' After Placement at Different Relative Humidities by Tooley, Paul W, Browning, Marsha

“…We examined the impact of relative humidity (RH) on Phytophthora ramorum sporangia production on Rhododendron 'Cunningham's White'. When diseased plants were…”
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A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD) by Adegbola, Abidemi, Gao, Hanlin, Sommer, Steve, Browning, Marsha

“…We describe a nondysmorphic patient with developmental delay and autism spectrum disorder who has a missense mutation in the Jumonji AT‐rich interactive domain…”
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The Effect of Exposure to Decreasing Relative Humidity on the Viability of Phytophthora ramorum sporangia by Tooley, Paul W., Browning, Marsha

“…Sporangia of three isolates of Phytophthora ramorum representing three different clonal lineages were subjected to relative humidity (RH) levels between 80 and…”
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Temperature Effects on the Onset of Sporulation by Phytophthora ramorum on Rhododendron 'Cunningham's White' by Tooley, Paul W., Browning, Marsha

“…The effect of temperature and moist period on the onset of sporangia production by Phytophthora ramorum on Rhododendron ‘Cunningham's White’ was examined with…”
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The effect of temperature on germination of chlamydospores of Phytophthora ramorum by Tooley, Paul W., Browning, Marsha, Leighty, Robert M.

“…Mycelium-free chlamydospores of 12 isolates of P. ramorum representing three clonal lineages were produced with a method involving incubation in nonsterile…”
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Effects of Inoculum Density and Wounding on Stem Infection of Three E astern US Forest Species by P hytophthora ramorum by Tooley, Paul W., Browning, Marsha, Leighty, Robert M.

“…Abstract Seedlings of three E astern US forest species Q uercus rubra (northern red oak), Q uercus prinus (chestnut oak) and A cer rubrum (red maple) were…”
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Inoculum Density Relationships for Infection of Some Eastern US Forest Species by Phytophthora ramorum by Tooley, Paul W, Browning, Marsha, Leighty, Robert M

“…Our objectives were to establish inoculum density relationships between P. ramorum and selected hosts using detached leaf and whole-plant inoculations. Young…”
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