نتائج البحث - "Wassif, Christopher A."

1

دورية أكاديمية

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

المؤلفون: Campbell, Kiersten, Cawley, Niamh X., Luke, Rachel, Scott, Katelin E. J., Johnson, Nicholas, Farhat, Nicole Y., Alexander, Derek, Wassif, Christopher A., Li, Wenping, Cologna, Stephanie M., Berry-Kravis, Elizabeth, Do, An Dang, Dale, Ryan K., Porter, Forbes D.

المساهمون: Together Strong NPC Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Ara Parseghian Medical Research Foundation, National Institutes of Health

المصدر: Biomarker Research ; volume 11, issue 1 ; ISSN 2050-7771

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s40364-023-00448-xTest

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2

دورية أكاديمية

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

المؤلفون: Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.

المصدر: Molecular Genetics and Metabolism Reports ; volume 37, page 101001 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.101001Test
https://api.elsevier.com/content/article/PII:S2214426923000472?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426923000472?httpAccept=text/plainTest

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3

رسالة جامعية

Dysregulation of cholesterol homeostasis

المؤلفون: Wassif, Christopher A.

مرشدي الرسالة: Platt, Frances; Porter, Forbes

مصطلحات موضوعية: 612.1, Biology (medical sciences), Cholesterol, Smith-Lemli-Opitz

الإتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.658536Test

4

دورية أكاديمية

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

المؤلفون: Farhat, Nicole Y., Alexander, Derek, McKee, Kyli, Iben, James, Rodriguez-Gil, Jorge L., Wassif, Christopher A., Cawley, Niamh X., Balch, William E., Porter, Forbes D.

المصدر: International Journal of Molecular Sciences; Apr2024, Vol. 25 Issue 8, p4217, 14p

مصطلحات موضوعية: NIEMANN-Pick diseases, LYSOSOMAL storage diseases, GENE expression, NATURAL history, AGE of onset

النص الكامل

5

دورية أكاديمية

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

المؤلفون: Tierney, Elaine, Remaley, Alan T., Thurm, Audrey, Jager, Leah R., Wassif, Christopher A., Kratz, Lisa E., Bailey-Wilson, Joan E., Bukelis, Irena, Sarphare, Geeta, Jung, Eun Sol, Brand, Boudewien, Noah, Kelly K., Porter, Forbes D.

المصدر: Translational Psychiatry ; volume 11, issue 1 ; ISSN 2158-3188

مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health

الإتاحة: https://doi.org/10.1038/s41398-021-01580-8Test
https://www.nature.com/articles/s41398-021-01580-8.pdfTest
https://www.nature.com/articles/s41398-021-01580-8Test

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6

دورية أكاديمية

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

المؤلفون: Prabhu, Anika V., Kang, Insung, De Pace, Raffaella, Wassif, Christopher A., Fujiwara, Hideji, Kell, Pamela, Jiang, Xuntian, Ory, Daniel S., Bonifacino, Juan S., Ward, Michael E., Porter, Forbes D.

المساهمون: Ara Parseghian Medical Research Foundation, Division of Intramural Research, National Institute of Child Health and Human Developmen, National Institutes of Health

المصدر: BMC Biology ; volume 19, issue 1 ; ISSN 1741-7007

مصطلحات موضوعية: Cell Biology, Developmental Biology, Plant Science, General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Physiology, Ecology, Evolution, Behavior and Systematics, Structural Biology, Biotechnology