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Characterization of central manifestations in patients with Niemann-Pick disease type C.
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. van Gool R, et al. Among authors: upadhyay j. Genet Med. 2024 Mar;26(3):101053. doi: 10.1016/j.gim.2023.101053. Epub 2023 Dec 19. Genet Med. 2024. PMID: 38131307
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis.
van Gool R, Cay M, Ren B, Brodeur K, Golden E, Goodlett B, Yang E, Reilly T, Hastings C, Berry-Kravis EM, Lee PY, Di Biase M, Cropley V, Pantelis C, Velakoulis D, Shinn AK, Al-Hertani W, Walterfang M, Upadhyay J. van Gool R, et al. Among authors: upadhyay j. Brain Behav Immun. 2024 Dec 15;124:376-384. doi: 10.1016/j.bbi.2024.12.024. Online ahead of print. Brain Behav Immun. 2024. PMID: 39689839
Case report: Chronic pain in a pediatric patient with late-onset pompe disease.
Cao A, van Gool R, Golden E, Goodlett B, Camelo C, Bujoreanu S, Al-Hertani W, Upadhyay J. Cao A, et al. Among authors: upadhyay j. Front Pain Res (Lausanne). 2023 Oct 6;4:1244609. doi: 10.3389/fpain.2023.1244609. eCollection 2023. Front Pain Res (Lausanne). 2023. PMID: 37841659 Free PMC article.
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America.
Rybalka E, Park HJ, Nalini A, Baskar D, Polavarapu K, Durmus H, Xia Y, Wan L, Shieh PB, Moghadaszadeh B, Beggs AH, Mack DL, Smith AST, Hanna-Rose W, Jinnah HA, Timpani CA, Shen M, Upadhyay J, Brault JJ, Hall MD, Baweja N, Kakkar P. Rybalka E, et al. Among authors: upadhyay j. Orphanet J Rare Dis. 2024 Nov 26;19(1):438. doi: 10.1186/s13023-024-03429-x. Orphanet J Rare Dis. 2024. PMID: 39593137 Free PMC article.
222 results