Results 131 to 140 of about 5,268,641 (220)

Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study. [PDF]

Orphanet J Rare Dis
Karimzadeh P, Ahmadabadi F, Zeinali V, Kamfar S, Ashrafi MR, Tavasoli AR, Tonekaboni SH, Ghanaati F.   +7 more
europepmc   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 12; August 2024-December 2024

Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
Fw, Pfrieger
core  

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Rodriguez-Gil JL, Smith WE, Chang IJ, Mendelsohn BA, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
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

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

Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1. [PDF]

PLoS One
Epstein BE, Soden GM, Incao AA, Mylvara A, Flynn J, Ozsolak F, Pavan WJ.   +6 more
europepmc   +1 more source

Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C. [PDF]

Brain Commun
Gonzalez-Ortiz F, Karikari TK, Taylor-Te Vruchte D, Shepherd D, Kirsebom BE, Fladby T, Platt F, Blennow K.   +7 more
europepmc   +1 more source

Niemann-Pick Disease [PDF]

, 2019
openaire   +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