Results 131 to 140 of about 29,877 (187)

Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice. [PDF]

Genes (Basel)
Servín-Muñoz IV, Ortuño-Sahagún D, Reyes-Mata MP, Griñán-Ferré C, Pallàs M, González-Castillo C.   +5 more
europepmc   +1 more source

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source

Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. [PDF]

Brain Behav Immun
van Gool R, Cay M, Ren B, Brodeur K, Golden E, Goodlett B, Yang E, Reilly T, Hastings C, Berry-Kravis EM, Lee PY, Di Biase M, Cropley V, Pantelis C, Velakoulis D, Shinn AK, Al-Hertani W, Walterfang M, Upadhyay J.   +18 more
europepmc   +1 more source

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab
Porter FD, Alexander DM, Albert OK, Robbins KP, Labor DA, Borruso AJ, Farhat NY, Jiang X, Berry-Kravis E.   +8 more
europepmc   +1 more source

Reduced native T₁ on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B. [PDF]

Am Heart J Plus
Redzepi B, Antiochos P, Tran C, Barbosa JV, Masi A, Zhang M, Adheriyani R, Campos-Xavier B, Schwitter J.   +8 more
europepmc   +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

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report [PDF]

, 2016

core   +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

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

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1. [PDF]

Hum Gene Ther
Mylvara AV, Davidson CD, Alexander D, Venditti CP, Porter FD.   +4 more
europepmc   +1 more source