Results 151 to 160 of about 30,962 (231)

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease. [PDF]

Int J Mol Sci
David H, Monfregola J, Ribeiro I, Cardoso MT, Sandiares AC, Moreira L, Coutinho MF, Quelhas D, Ballabio A, Alves S, Encarnação M.   +10 more
europepmc   +1 more source

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective. [PDF]

Orphanet J Rare Dis, 2021
Mengel E, Patterson MC, Chladek M, Guldberg C, Í Dali C, Symonds T, Lloyd-Price L, Mathieson T, Crowe J, Burbridge C.   +9 more
europepmc   +1 more source

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines. [PDF]

Orphanet J Rare Dis
Rasmussen CLM, Burkhart A, Moos T, Thomsen LB.   +3 more
europepmc   +1 more source

Clinical correlates of movement disorders in adult Niemann-Pick type C patients measured via a Personal KinetiGraph. [PDF]

Neurol Sci, 2022
El-Masri S, Malpas CB, Evans A, Walterfang M.   +3 more
europepmc   +1 more source

Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease. [PDF]

J Neuropathol Exp Neurol
Azaria RD, Ferris SP, Tashjian RS, Perneel J, Van den Broeck M, Mackenzie IR, Berry-Kravis E, Rademakers R, Lieberman AP.   +8 more
europepmc   +1 more source

Upregulation of SNAP25 by HDAC inhibition ameliorates Niemann-Pick Type C disease phenotypes via autophagy induction. [PDF]

Clin Transl Med, 2022
Jung Y, Lee SE, Kang I, Cho SM, Kang KS, Kwon HJ.   +5 more
europepmc   +1 more source

Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement. [PDF]

Children (Basel), 2022
Kraus D, Abdelrahim H, Waisbourd-Zinman O, Domin E, Zeharia A, Staretz-Chacham O.   +5 more
europepmc   +1 more source

Niemann-Pick disease type C

, 2014
Frank Gaillard, Rohit Sharma, Francis Fortin   +2 more
openaire   +1 more source

Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective. [PDF]

Arq Neuropsiquiatr
Horovitz DDG, Pessoa A, França Junior MC, Giugliani R, Souza CFM, Embiruçu EK, Braga-Neto P, Lourenço CM.   +7 more
europepmc   +1 more source