Results 151 to 160 of about 25,991 (220)

A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C. [PDF]

Eur J Neurol, 2021
Bremova-Ertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinová V, Kolníková M, Gascón Bayarri J, Reza Tavasoli A, Reza Ashrafi M, Amraoui Y, Mengel E, Kolb SA, Brecht A, Bardins S, Strupp M.   +15 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

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

Intracellular cholesterol transport proteins: roles in health and disease [PDF]

, 2016
Graham, Annette, Soffientini, Ugo
core   +1 more source

Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis. [PDF]

Elife
Du K, Chen H, Pan Z, Zhao M, Cheng S, Luo Y, Zhang W, Li D.   +7 more
europepmc   +1 more source

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC). [PDF]

Orphanet J Rare Dis
Stern S, Crisamore K, Schuck R, Pacanowski M.   +3 more
europepmc   +1 more source

Characterization of central manifestations in patients with Niemann-Pick disease type C. [PDF]

Genet Med
van Gool R, Golden E, Goodlett B, Zhang F, Vogel AP, Tourville JA, Yao K, Cay M, Tiwari S, Yang E, Zekelman LR, Todd N, O'Donnell LJ, Ren B, Bodamer OA, Al-Hertani W, Upadhyay J.   +16 more
europepmc   +1 more source

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells. [PDF]

Metabolites
Watanabe M, Maekawa M, Miyoshi K, Sato T, Sato Y, Kumondai M, Fukasawa M, Mano N.   +7 more
europepmc   +1 more source

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears. [PDF]

Hemasphere
Girard S, Pettazzoni M, Froissart R, Pagan C, Boyer T, Dulucq S, Gonçalves Monteiro V, Lechevalier N, Loosveld M, Lours C, Mayeur-Rousse C, Pannetier M, Peillon C, Rosenthal MA, Sep Hieng S, Trichet C, Baseggio L, on behalf the French‐Speaking Cellular Haematology Group (GFHC).   +17 more
europepmc   +1 more source

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale. [PDF]

Mol Genet Metab Rep
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, LaGorio L, Berry-Kravis E, Porter FD, Solomon B, Himmelstrup L, Mickle T, Guenther S, Dali CÍ.   +22 more
europepmc   +1 more source