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Rachel A. Luke

affiliation not provided to SSRN

  • affiliation not provided to SSRN

SCHOLARLY PAPERS

2

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43

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0

Scholarly Papers (2)

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1.

Elevated Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Smith-Lemli-Opitz Syndrome

Number of pages: 21 Posted: 18 Jul 2024
Rachel A. Luke, Niamh X. Cawley, Samar Rahal, Aishwarya Selvaraman, Audrey Thurm, Christopher A. Wassif and Forbes Denny Porter
affiliation not provided to SSRN, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, affiliation not provided to SSRN, affiliation not provided to SSRN, Government of the United States of America - National Institute of Mental Health, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development and Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development
Downloads 33 (1,277,121)

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Smith-Lemli-Opitz syndrome, DHCR7, SLOS, GFAP, Biomarkers

2.

Lack of Cathepsin B Increases Severity in Niemann-Pick Disease, type C1 Mice

Number of pages: 9 Posted: 05 May 2026
Rachel A. Luke, Niamh X. Cawley and Forbes Denny Porter
affiliation not provided to SSRN, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development and Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development
Downloads 10 (1,541,665)

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Neurodegeneration, apoptosis, lysosome membrane permeability, NPC1, cathepsin B