Results 161 to 170 of about 48,564 (222)

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1

Human Molecular Genetics, 2016
R. Chandler, Ian M. Williams, Alana L. Gibson, Cristin D. Davidson, Arturo A. Incao, Brandon T. Hubbard, F. Porter, W. Pavan, C. Venditti   +8 more
semanticscholar   +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

The adult form of Niemann-Pick disease type C.

Brain : a journal of neurology, 2006
M. Sévin, G. Lesca, N. Baumann, G. Millat, O. Lyon‐Caen, M. Vanier, F. Sedel   +6 more
semanticscholar   +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

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core