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… S, Bolduc V, Ala P, Turmaine M, Bönnemann CG, Muntoni F, Zhou H. Exon-Skipping Oligonucleotides Restore Functional … C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG. A recurrent COL6A1 pseudoexon insertion …
… residency at Mount Sinai School of Medicine, he came to the National Institutes of Health for a fellowship in … state functional MRI in patients with epilepsy. Hum Brain Mapp. 2020 Aug 1;41(11):3133-3146. doi: …
… Thiagarajan RR, Reeves MJ, Ritchey M, Rodriguez CJ, Roth GA, Rosamond WD, Sasson C, Towfighi A, Tsao CW, Turner MB, … support) Pennica D, Holmes WE, Kohr WJ, Harkins RN, Vehar GA, Ward CA, Bennett WF, Yelverton E, Seeburg PH, Heyneker … WA, Madden K, Sasse KC, Mazzarella VA, Terry RD, Press GA. Tissue plasminogen activator-mediated thrombolysis of …
… doi: 10.1016/j.nbd.2019.03.006. [Epub ahead of print] Review. PubMed PMID: 30872159. Franjesevic AJ, Sillart SB, … MM, Sivaram G, Richardson JR. Regional Susceptibility to ER Stress and Protection by Salubrinal Following a Single Exposure to Deltamethrin. Toxicol Sci. 2019 Jan 1;167(1):249-257. doi: …
… Director of the CTU and Lead, Clinical Trials Compliance and Safety Oversight Office Image Division of Intramural … with a checkpoint-inhibitor. NEJM . 2019 Apr 10; doi: 10.1056/NEJMoa1815039. Bowen LN , Smith B, Reich …
… Dr. Jun Yin completed her Ph.D. study in Genetics and Developmental Biology at the Institute of Hydrobiology … Dr. Yin began her journey at the National Institute of Neurological Disorders and Stroke ( NINDS ) in 2013 as a Research Fellow …
… in cells, leading to a variety of symptoms. In Gaucher disease, the deficient enzyme is glucocerebrosidase, which … of white and red blood cell membranes. Type 1 Gaucher disease primarily affects white blood cells called … painful skeletal deformities. Two other forms of Gaucher disease affect cells in the brain as well, leading to …
… Pharmaceutical, Inc. Ceroid lipofuscinosis 2 (CLN2 disease) is one of a group of rare genetic disorders called neuronal ceroid … in which affected individuals lack a specific enzyme that breaks down macromolecules such as lipids (fats) and …
… Boateng, BS Selected Publications Freedberg M, Cunningham CA, Fioriti CM, Murillo JD, Reeves JA, Taylor PA, Sarlls JE, … 13:915260. Schintu S, Kravitz DJ, Silson EH, Cunningham CA, Wassermann EM, Shomstein S (2023) Dynamic changes in … Cereb Cortex 21; 33: 3651-3663. Freedberg M, Cunningham CA, Fioriti CM, Murillo JD, Reeves JA, Taylor PA, Sarlls JE, …
… Intramural Research Clinical Neuroscience, Neuroimmunology and Virology Contact Bridgette.Billioux@nih.gov 301-402-5891/ … Dr. Billioux has found that many EVD survivors suffer from neurological sequelae, including headaches, memory loss, … Diseases and Multiple Sclerosis. PLoS Pathog. 2018 Apr 30;14(4). Azodi, Shila; Nair, Govind; Enose-Akahata, …