Results 91 to 100 of about 14,349 (135)

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

Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C. [PDF]

Front Cell Neurosci, 2021
Van Hoecke L, Van Cauwenberghe C, Dominko K, Van Imschoot G, Van Wonterghem E, Castelein J, Xie J, Claeys W, Vandendriessche C, Kremer A, Borghgraef P, De Rycke R, Hecimovic S, Vandenbroucke RE.   +13 more
europepmc   +1 more source

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

Juvenile onset niemann-pick type C disease with refractory seizures

Annals of Indian Academy of Neurology, 2019
Banshi Lal Kumawat, Pankaj Kumar Saini, Chandra Mohan Sharma, Manisha Sharma, L S Manu   +4 more
doaj   +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

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

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

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

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. [PDF]

Neurology
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T.   +16 more
europepmc   +1 more source