A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1
Li, Wenping, Pergande, Melissa R., Crutchfield, Christopher A., Searle, Brian C., Backlund, Peter S., Picache, Jaqueline A., Burkert, Kathryn, Yanjanin‐Farhat, Nicole M., Blank, Paul S., Toth, Cynthia L., Wassif, Christopher A., Porter, Forbes D., Cologna, Stephanie M.
Published in Proteomics (Weinheim) (01.06.2023)
Published in Proteomics (Weinheim) (01.06.2023)
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Journal Article
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Solomon, Beth I, Muñoz, Andrea M, Sinaii, Ninet, Mohamed, Hibaaq, Farhat, Nicole M, Alexander, Derek, Do, An Dang, Porter, Forbes D
Published in Orphanet journal of rare diseases (11.06.2024)
Published in Orphanet journal of rare diseases (11.06.2024)
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Journal Article
Phenotypic expression of swallowing function in Niemann-Pick disease type C1
Solomon, Beth I, Muñoz, Andrea M, Sinaii, Ninet, Farhat, Nicole M, Smith, Andrew C, Bianconi, Simona, Dang Do, An, Backman, Michael C, Machielse, Leonza, Porter, Forbes D
Published in Orphanet journal of rare diseases (05.09.2022)
Published in Orphanet journal of rare diseases (05.09.2022)
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Journal Article
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
Cawley, Niamh X., Giddens, Spencer, Farhat, Nicole M., Luke, Rachel A., Scott, Katelin E.J., Mohamed, Hibaaq O., Dang Do, An, Berry-Kravis, Elizabeth, Cologna, Stephanie M., Liu, Fang, Porter, Forbes D.
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article