Results 131 to 140 of about 25,942 (185)

Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy". [PDF]

Front Psychiatry, 2021
van Verseveld M, Koens LH, de Koning TJ, Derikx RLE, van Waarde JA.   +4 more
europepmc   +1 more source

Tonic prime-boost of STING signalling mediates Niemann-Pick disease type C. [PDF]

Nature, 2021
Chu TT, Tu X, Yang K, Wu J, Repa JJ, Yan N.   +5 more
europepmc   +1 more source

Role of mTORC1 signaling in postnatal microglia activation preceding neurodegeneration in a mouse model for Niemann-Pick disease Type C. [PDF]

PLoS One
Murray CE, Betancourt-Trompa DS, Martinez MS, Carson JM, Walsh LJ, Remillard WC, Fordyce KB, Reddy R, Soto I.   +8 more
europepmc   +1 more source

Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. [PDF]

J Neurol, 2022
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA.   +14 more
europepmc   +1 more source

Niemann-Pick Type C Disease [PDF]

, 2017
Morkous, Sameh, MD, FAAN
core   +1 more source

Clinical Evaluation of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C: A Critical Perspective. [PDF]

Mov Disord Clin Pract
Lopez G, Holgado C.
europepmc   +1 more source

The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis. [PDF]

Front Genet, 2022
Wang NL, Chen L, Lu Y, Xie XB, Lin J, Abuduxikuer K, Wang JS.   +6 more
europepmc   +1 more source

Inability of α-cyclodextrins to accommodate cholesterol potentially underlies their lack of efficacy and ototoxicity in Niemann-Pick disease type C treatment. [PDF]

Sci Rep
Yamada Y, Tanaka M, Ikeda Y, Kondo Y, Takeo T, Nakagata N, Miwa T, Takeda H, Orita Y, Motoyama K, Higashi T, Arima H, Seki T, Kurauchi Y, Katsuki H, Higaki K, Matsusaka K, Minami K, Yoshikawa N, Ikeda R, Matsuo M, Irie T, Ishitsuka Y.   +22 more
europepmc   +1 more source

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C. [PDF]

Children (Basel), 2021
Modin L, Ng V, Gissen P, Raiman J, Pfister ED, Das A, Santer R, Faghfoury H, Santra S, Baumann U.   +9 more
europepmc   +1 more source

Normalization of hepatic homeostasis in the Npc1nmf164 mouse model of Niemann-Pick type C disease treated with the histone deacetylase inhibitor vorinostat [PDF]

, 2017
al, et, Ory, Daniel S.
core   +1 more source