Results 111 to 120 of about 28,047,610 (162)

N-acetyl-L-leucine normalizes Transcription Factor EB activity by stereospecific bidirectional modulation in a HeLa cell model of Niemann-Pick disease type C. [PDF]

PLoS One
Davis LC, Annaert W, Braine R, Churchill GC, Factor M, Fields T, Patterson M, Platt F, Shepherd D, Strupp M, Galione A.   +10 more
europepmc   +1 more source

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study. [PDF]

Orphanet J Rare Dis, 2023
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B.   +13 more
europepmc   +1 more source

Evidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C. [PDF]

Int J Mol Sci
Sanchez KL, Kim J, White JB, Tolan A, Rajagopal NP, Anderson DW, Shin AN, Shin SD, Currais A, Soriano-Castell D, Maher P, Soriano S.   +11 more
europepmc   +1 more source

Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C. [PDF]

Cells, 2022
Liedtke M, Völkner C, Hermann A, Frech MJ.   +3 more
europepmc   +1 more source

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

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C. [PDF]

Int J Neonatal Screen, 2022
Kubaski F, Burlina A, Polo G, Pereira D, Herbst ZM, Silva C, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Faqueti L, Iop GD, Poletto E, Giugliani R.   +15 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

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