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Molecular Genetics and Metabolism|March 10, 2019
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural historySimona E Bianconi, Dylan I Hammond, Nicole Y Farhat, et al.
American Journal of Medical Genetics. Part A|December 17, 2024
Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1Cameron J Padilla, Derek M Alexander, Desiree A Labor, et al.
Orphanet Journal of Rare Diseases|June 11, 2024
Swallowing characterization of adult-onset Niemann-Pick, type C1 patientsBeth I Solomon, Andrea M Muñoz, Ninet Sinaii, et al.
Biomarker Research|May 9, 2026
Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1Khushboo Singhal, Matthew T Menold, Niamh X Cawley, et al.
Molecular Genetics and Metabolism|November 22, 2021
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1Antony Cougnoux, Julia C Yerger, Mason Fellmeth, et al.
Research Square|April 29, 2026
Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1Khushboo Singhal, Matthew T Menold, Niamh X Cawley, et al.
American Journal of Medical Genetics. Part A|December 3, 2022
Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosisAmelia Luckett, Muhammad Yousef, Cynthia Tifft, et al.
The American Journal of Psychiatry|October 30, 2004
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriersAleksandra Lalovic, Louise Merkens, Laura Russell, et al.
Stem Cells Translational Medicine|February 1, 2015
Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signalingAnastasia G Efthymiou, Joe Steiner, William J Pavan, et al.
Human Molecular Genetics|January 14, 2010
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implicationsXiao-Sheng Jiang, Christopher A Wassif, Peter S Backlund, et al.
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