Results 81 to 90 of about 14,349 (135)

Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C. [PDF]

Heliyon, 2023
Chen TI, Hsu PC, Lee NC, Liu YH, Wang HC, Lu YH, Chien YH, Hwu WL.   +7 more
europepmc   +1 more source

A whole-brain structural connectivity signature in adult Niemann-Pick disease type C. [PDF]

Brain Commun
Reilly TC, Di Biase MA, Mansour S, Seguin C, Cropley VL, Velakoulis D, Zalesky A, Pantelis C, Walterfang M.   +8 more
europepmc   +1 more source

Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review. [PDF]

JIMD Rep, 2023
Hwang S, Choi Y, Lee BH, Choi JH, Kim JH, Yoo HW.   +5 more
europepmc   +1 more source

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

Efficacy and safety of efavirenz in Niemann-Pick disease type C. [PDF]

Neurotherapeutics
Gascón-Bayarri J, Rico I, Sánchez-Castañeda C, Ledesma MD, Carnaval T, Bejr-Kasem H, Campdelacreu J, Ferrer A, Rodríguez-Bel L, Cos M, de Lama E, López de Munain A, Rouco I, Pérez-Sousa C, Cerdán M, Muelas N, Sevillano MD, Mir P, Villoria J, Videla S.   +19 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