Results 61 to 70 of about 7,107 (121)

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

Diseases, 2016
Niemann-Pick Disease, type C1 (NPC1) is a rapidly progressive neurodegenerative disorder characterized by cholesterol sequestration within late endosomes and lysosomes, for which no reliable imaging marker exists for prognostication and management ...
Meghann W. Lau, Ryan W. Lee, Robin Miyamoto, Eun Sol Jung, Nicole Yanjanin Farhat, Shoko Yoshida, Susumu Mori, Andrea Gropman, Eva H. Baker, Forbes D. Porter   +9 more
doaj   +1 more source

A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1. [PDF]

Proteomics, 2023
Li W, Pergande MR, Crutchfield CA, Searle BC, Backlund PS, Picache JA, Burkert K, Yanjanin-Farhat NM, Blank PS, Toth CL, Wassif CA, Porter FD, Cologna SM.   +12 more
europepmc   +1 more source

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab, 2023
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +10 more
europepmc   +1 more source

Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1. [PDF]

Am J Med Genet A, 2021
Rodriguez-Gil JL, Bianconi SE, Farhat N, Kleiner DE, Nelson M, Porter FD.   +5 more
europepmc   +1 more source

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology. [PDF]

Int J Mol Sci, 2022
Cawley NX, Lyons AT, Abebe D, Luke R, Yerger J, Telese R, Wassif CA, Bailey-Wilson JE, Porter FD.   +8 more
europepmc   +1 more source

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab, 2021
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Navid F, Wassif CA, Cawley NX, Porter FD.   +7 more
europepmc   +1 more source

From autophagy–lysosomal deficits to neurodegeneration in Niemann-Pick type C1 disease: implications for age-related neurodegenerative disorders

Frontiers in Neuroscience
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by loss-of-function mutations in the NPC1 gene. NPC1 deficit primarily disrupts lipid homeostasis and subsequently drives cellular degeneration through ...
Yuki Kawachi, Gamze Kocak, Viktor I. Korolchuk, Tetsushi Kataura, Sovan Sarkar   +4 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source