Results 131 to 140 of about 28,047,610 (162)

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

A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann-Pick Disease Type C. [PDF]

Genes (Basel)
Sanchez KL, Shin SD, Rajagopal NP, White JB, Currais A, Soriano-Castell D, Maher P, Soriano S.   +7 more
europepmc   +1 more source

Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial. [PDF]

Intractable Rare Dis Res
Zhang H, Xiong H, Wei C, Yi M, Che Y, Zhuo J, Li X.   +6 more
europepmc   +1 more source

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale. [PDF]

J Child Neurol
Farmer C, Lewis M, Farhat N, Robbins KP, Joseph L, Albert OK, Bianconi S, Hoffmann A, Giserman-Kiss I, Alexander DM, Thurm A, Porter FD, Kravis EB.   +12 more
europepmc   +1 more source

A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C. [PDF]

Noro Psikiyatr Ars
Altındağ E, Alanay Y, Baykan B, Dervent A.   +3 more
europepmc   +1 more source

Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signaling in a Model of Niemann-Pick Disease Type C. [PDF]

Adv Sci (Weinh)
Lu M, Hui E, Brockhoff M, Träuble J, Fernandez-Villegas A, Burton OJ, Lamb J, Ward E, Woodhams PJ, Tadbier W, Läubli NF, Hofmann S, Kaminski CF, Lombardo A, Kaminski Schierle GS.   +14 more
europepmc   +1 more source

Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann-Pick Disease Type C. [PDF]

Genes (Basel)
Tolan AJ, Sanchez KL, Shin SD, White JB, Currais A, Soriano-Castell D, Wilson CG, Maher P, Soriano S.   +8 more
europepmc   +1 more source