E-LIB Suche - Ergebnisse für: Porter, Forbes D

1

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of N..:

Farhat, Nicole Y. ; Alexander, Derek ; McKee, Kyli...
International Journal of Molecular Sciences. 25 (2024) 8 - p. 4217 , 2024

Link: https://doi.org/10.3390/..

2

Sterol biosynthesis regulates TLR signaling and the innate ..:

Gabor, Kristin ; Mesev, Emily V. ; Madenspacher, Jennifer...
Journal of Clinical Investigation. 134 (2024) 6 - p. , 2024

Link: https://doi.org/10.1172/..

3

Accumulation of alkyl-lysophosphatidylcholines in Niemann-P..:

Mishra, Sonali ; Kell, Pamela ; Scherrer, David...
Journal of Lipid Research. 65 (2024) 8 - p. 100600 , 2024

Link: https://doi.org/10.1016/..

4

Swallowing characterization of adult-onset Niemann-Pick, ty..:

Solomon, Beth I. ; Muñoz, Andrea M. ; Sinaii, Ninet...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

5

Characterization of seizures and EEG findings in creatine t..:

Abdennadher, Myriam ; Inati, Sara K. ; Rahhal, Samar...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 337-345 , 2023

Link: https://doi.org/10.1002/..

6

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase..:

Cawley, Niamh X. ; Giddens, Spencer ; Farhat, Nicole M....
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107656 , 2023

Link: https://doi.org/10.1016/..

7

Cerebrospinal Fluid Protein Biomarker Discovery in CLN3:

Dang Do, An N. ; Sleat, David E. ; Campbell, Kiersten...
Journal of Proteome Research. 22 (2023) 7 - p. 2493-2508 , 2023

Link: https://doi.org/10.1021/..

8

Identification of cerebral spinal fluid protein biomarkers ..:

Campbell, Kiersten ; Cawley, Niamh X. ; Luke, Rachel...
Biomarker Research. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

Corrigendum to "Elevated amyloid beta peptides and total ta..:

Rahhal, Samar ; Farmer, Cristan ; Thurm, Audrey...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101013 , 2023

Link: https://doi.org/10.1016/..

10

A differential proteomics study of cerebrospinal fluid from..:

Li, Wenping ; Pergande, Melissa R. ; Crutchfield, Christopher A....
PROTEOMICS. 23 (2023) 11 - p. , 2023

Link: https://doi.org/10.1002/..

11

Elevated amyloid beta peptides and total tau in cerebrospin..:

Rahhal, Samar ; Farmer, Cristan ; Thurm, Audrey...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101001 , 2023

Link: https://doi.org/10.1016/..

12

Brain proton MR spectroscopy measurements in CLN3 disease:

Dang Do, An N. ; Baker, Eva H. ; Farmer, Cristan A....
Molecular Genetics and Metabolism. 139 (2023) 1 - p. 107584 , 2023

Link: https://doi.org/10.1016/..

13

Neurofilament light chain in cerebrospinal fluid as a novel..:

Agrawal, Neena ; Farhat, Nicole Y. ; Sinaii, Ninet...
Genetics in Medicine. 25 (2023) 3 - p. 100349 , 2023

Link: https://doi.org/10.1016/..

14

Rare disease variant curation from literature: assessing ga..:

Lyons, Erica L. ; Watson, Daniel ; Alodadi, Mohammad S....
BMC Genomics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

15

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine l..:

Dang Do, An N. ; Chang, Irene J. ; Jiang, Xutian...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 326-334 , 2023

Link: https://doi.org/10.1002/..